Scholars@Duke
Yuan-Tsong Chen

Yuan-Tsong Chen

Professor Emeritus of Pediatrics
Pediatrics, Medical Genetics
chen0010@mc.duke.edu
Box 103856 Med Ctr, Durham, NC 27710
Room 4009, 4th Floor, GSRB1, 595 LaSalle Street, Durham, NC 27710
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Selected Publications

Use of the Biopharmaceutics Drug Disposition Classification System (BDDCS) to Help Predict the Occurrence of Idiosyncratic Cutaneous Adverse Drug Reactions Associated with Antiepileptic Drug Usage.

Journal Article AAPS J · May 2016 Cutaneous adverse reactions (CARs) from antiepileptic drugs (AEDs) are common, ranging from mild to life-threatening, including Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). The identification of subjects carrying the HLA-B*15:02, an ... Full text Link to item Cite

Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis.

Journal Article Neurology · March 29, 2016 OBJECTIVE: To identify susceptibility genes to nonfamilial hypokalemic periodic paralysis (hypoKPP) consisting of thyrotoxic periodic paralysis (TPP) and sporadic periodic paralysis (SPP) and explore the potential pathogenic mechanisms. METHODS: We enrolle ... Full text Link to item Cite

Pharmacogenomics for personalized pain medicine.

Journal Article Acta Anaesthesiol Taiwan · March 2016 Pharmacogenomics aims to unravel the way that human genetic variation affects drug efficacy and toxicity. Genome-wide association studies and candidate gene findings suggest that genetic approaches may help choose the most appropriate drug and dosage while ... Full text Link to item Cite

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Journal Article Nat Commun · January 21, 2016 Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data ... Full text Link to item Cite

Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference.

Journal Article Sci Rep · January 20, 2016 Sixty genetic loci associated with abdominal obesity, measured by waist circumference (WC) and waist-hip ratio (WHR), have been previously identified, primarily from studies conducted in European-ancestry populations. We conducted a meta-analysis of associ ... Full text Link to item Cite

Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation.

Journal Article J Invest Dermatol · November 2015 Many biochemical pathways involved in hair and skin development have not been investigated. Here, we reported on the lesions and investigated the mechanism underlying hair and skin abnormalities in Zdhhc13(skc4) mice with a deficiency in DHHC13, a palmitoy ... Full text Link to item Cite

Use of HLA-B*58:01 genotyping to prevent allopurinol induced severe cutaneous adverse reactions in Taiwan: national prospective cohort study.

Journal Article BMJ · September 23, 2015 OBJECTIVE: To evaluate the use of prospective screening for the HLA-B*58:01 allele to identify Taiwanese individuals at risk of severe cutaneous adverse reactions (SCARs) induced by allopurinol treatment. DESIGN: National prospective cohort study. SETTING: ... Full text Link to item Cite

Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.

Journal Article Nat Commun · July 7, 2015 Graves' disease is the leading cause of hyperthyroidism affecting 1.0-1.6% of the population. Antithyroid drugs are the treatment cornerstone, but may cause life-threatening agranulocytosis. Here we conduct a two-stage association study on two separate sub ... Full text Link to item Cite

Loss of PTPRM associates with the pathogenic development of colorectal adenoma-carcinoma sequence.

Journal Article Sci Rep · April 24, 2015 Identification and functional analysis of genes from genetically altered chromosomal regions would suggest new molecular targets for cancer diagnosis and treatment. Here we performed a genome-wide analysis of chromosomal copy number alterations (CNAs) in m ... Full text Link to item Cite

Insights into osteoarthritis progression revealed by analyses of both knee tibiofemoral compartments.

Journal Article Osteoarthritis Cartilage · April 2015 OBJECTIVE: To identify disease relevant genes and pathways associated with knee Osteoarthritis (OA) progression in human subjects using medial and lateral compartment dominant OA knee tissue. DESIGN: Gene expression of knee cartilage was comprehensively as ... Full text Link to item Cite

CXCL10/IP-10 is a biomarker and mediator for Kawasaki disease.

Journal Article Circ Res · February 27, 2015 RATIONALE: Kawasaki disease (KD), an acute febrile vasculitis, is the most common cause of acquired heart disease in childhood; however, diagnosing KD can be difficult. OBJECTIVE: To identify unique proteomic biomarkers that can be used to facilitate earli ... Full text Link to item Cite

Association of circadian genes with diurnal blood pressure changes and non-dipper essential hypertension: a genetic association with young-onset hypertension.

Journal Article Hypertens Res · February 2015 Recent studies have suggested that circadian genes have important roles in maintaining the circadian rhythm of the cardiovascular system. However, the associations between diurnal BP changes and circadian genes remain undetermined. We conducted a genetic a ... Full text Link to item Cite

Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.

Journal Article J Gastroenterol · August 2014 BACKGROUND: It is known that malignant transformation to hepatocellular carcinoma (HCC) occurs at a higher frequency in hepatocellular adenoma (HCA) from type I glycogen storage disease (GSD I) compared to HCA from other etiologies. In this study, we aimed ... Full text Link to item Cite

Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.

Journal Article Diabetes · July 2014 Glycated hemoglobin A1c (HbA1c) is used as a measure of glycemic control and also as a diagnostic criterion for diabetes. To discover novel loci harboring common variants associated with HbA1c in East Asians, we conducted a meta-analysis of 13 genome-wide ... Full text Link to item Cite

Mouse model of glycogen storage disease type III.

Journal Article Mol Genet Metab · April 2014 Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of the glycogen debranching enzyme (GDE), which is encoded by the Agl gene. GDE deficiency leads to the pathogenic accumulation of phosphorylase limit dextrin (PLD), an abnormal glycog ... Full text Link to item Cite

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

Journal Article Nat Genet · March 2014 To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexi ... Full text Link to item Cite

Genetic polymorphisms of metabolic enzymes and the pharmacokinetics of indapamide in Taiwanese subjects.

Journal Article AAPS J · March 2014 To understand the genetic makeup and impact on pharmacokinetics (PK) in the Taiwanese population, we analyzed the pharmacogenetic (PG) profile and demonstrated its effects on enzyme metabolism using indapamide as an example. A multiplex mass spectrometry m ... Full text Link to item Cite

Predicting HLA genotypes using unphased and flanking single-nucleotide polymorphisms in Han Chinese population.

Journal Article BMC Genomics · January 29, 2014 BACKGROUND: Genetic variation associated with human leukocyte antigen (HLA) genes has immunological functions and is associated with autoimmune diseases. To date, large-scale studies involving classical HLA genes have been limited by time-consuming and exp ... Full text Link to item Cite

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.

Journal Article Gene · January 1, 2014 Xq28 duplications encompassing the methyl CpG binding protein 2 (MECP2) in males exhibit a distinct phenotype, including developmental delay, facial dysmorphism, muscular hypotonia, intellectual disability, poor or absent speech, recurrent infections and e ... Full text Link to item Cite

Use of the Biopharmaceutics Drug Disposition Classification System (BDDCS) to Help Predict the Occurrence of Idiosyncratic Cutaneous Adverse Drug Reactions Associated with Antiepileptic Drug Usage.

Journal Article AAPS J · May 2016 Cutaneous adverse reactions (CARs) from antiepileptic drugs (AEDs) are common, ranging from mild to life-threatening, including Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). The identification of subjects carrying the HLA-B*15:02, an ... Full text Link to item Cite

Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis.

Journal Article Neurology · March 29, 2016 OBJECTIVE: To identify susceptibility genes to nonfamilial hypokalemic periodic paralysis (hypoKPP) consisting of thyrotoxic periodic paralysis (TPP) and sporadic periodic paralysis (SPP) and explore the potential pathogenic mechanisms. METHODS: We enrolle ... Full text Link to item Cite

Pharmacogenomics for personalized pain medicine.

Journal Article Acta Anaesthesiol Taiwan · March 2016 Pharmacogenomics aims to unravel the way that human genetic variation affects drug efficacy and toxicity. Genome-wide association studies and candidate gene findings suggest that genetic approaches may help choose the most appropriate drug and dosage while ... Full text Link to item Cite

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Journal Article Nat Commun · January 21, 2016 Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data ... Full text Link to item Cite

Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference.

Journal Article Sci Rep · January 20, 2016 Sixty genetic loci associated with abdominal obesity, measured by waist circumference (WC) and waist-hip ratio (WHR), have been previously identified, primarily from studies conducted in European-ancestry populations. We conducted a meta-analysis of associ ... Full text Link to item Cite

Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation.

Journal Article J Invest Dermatol · November 2015 Many biochemical pathways involved in hair and skin development have not been investigated. Here, we reported on the lesions and investigated the mechanism underlying hair and skin abnormalities in Zdhhc13(skc4) mice with a deficiency in DHHC13, a palmitoy ... Full text Link to item Cite

Use of HLA-B*58:01 genotyping to prevent allopurinol induced severe cutaneous adverse reactions in Taiwan: national prospective cohort study.

Journal Article BMJ · September 23, 2015 OBJECTIVE: To evaluate the use of prospective screening for the HLA-B*58:01 allele to identify Taiwanese individuals at risk of severe cutaneous adverse reactions (SCARs) induced by allopurinol treatment. DESIGN: National prospective cohort study. SETTING: ... Full text Link to item Cite

Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.

Journal Article Nat Commun · July 7, 2015 Graves' disease is the leading cause of hyperthyroidism affecting 1.0-1.6% of the population. Antithyroid drugs are the treatment cornerstone, but may cause life-threatening agranulocytosis. Here we conduct a two-stage association study on two separate sub ... Full text Link to item Cite

Loss of PTPRM associates with the pathogenic development of colorectal adenoma-carcinoma sequence.

Journal Article Sci Rep · April 24, 2015 Identification and functional analysis of genes from genetically altered chromosomal regions would suggest new molecular targets for cancer diagnosis and treatment. Here we performed a genome-wide analysis of chromosomal copy number alterations (CNAs) in m ... Full text Link to item Cite

Insights into osteoarthritis progression revealed by analyses of both knee tibiofemoral compartments.

Journal Article Osteoarthritis Cartilage · April 2015 OBJECTIVE: To identify disease relevant genes and pathways associated with knee Osteoarthritis (OA) progression in human subjects using medial and lateral compartment dominant OA knee tissue. DESIGN: Gene expression of knee cartilage was comprehensively as ... Full text Link to item Cite

CXCL10/IP-10 is a biomarker and mediator for Kawasaki disease.

Journal Article Circ Res · February 27, 2015 RATIONALE: Kawasaki disease (KD), an acute febrile vasculitis, is the most common cause of acquired heart disease in childhood; however, diagnosing KD can be difficult. OBJECTIVE: To identify unique proteomic biomarkers that can be used to facilitate earli ... Full text Link to item Cite

Association of circadian genes with diurnal blood pressure changes and non-dipper essential hypertension: a genetic association with young-onset hypertension.

Journal Article Hypertens Res · February 2015 Recent studies have suggested that circadian genes have important roles in maintaining the circadian rhythm of the cardiovascular system. However, the associations between diurnal BP changes and circadian genes remain undetermined. We conducted a genetic a ... Full text Link to item Cite

Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.

Journal Article J Gastroenterol · August 2014 BACKGROUND: It is known that malignant transformation to hepatocellular carcinoma (HCC) occurs at a higher frequency in hepatocellular adenoma (HCA) from type I glycogen storage disease (GSD I) compared to HCA from other etiologies. In this study, we aimed ... Full text Link to item Cite

Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.

Journal Article Diabetes · July 2014 Glycated hemoglobin A1c (HbA1c) is used as a measure of glycemic control and also as a diagnostic criterion for diabetes. To discover novel loci harboring common variants associated with HbA1c in East Asians, we conducted a meta-analysis of 13 genome-wide ... Full text Link to item Cite

Mouse model of glycogen storage disease type III.

Journal Article Mol Genet Metab · April 2014 Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of the glycogen debranching enzyme (GDE), which is encoded by the Agl gene. GDE deficiency leads to the pathogenic accumulation of phosphorylase limit dextrin (PLD), an abnormal glycog ... Full text Link to item Cite

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

Journal Article Nat Genet · March 2014 To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexi ... Full text Link to item Cite

Genetic polymorphisms of metabolic enzymes and the pharmacokinetics of indapamide in Taiwanese subjects.

Journal Article AAPS J · March 2014 To understand the genetic makeup and impact on pharmacokinetics (PK) in the Taiwanese population, we analyzed the pharmacogenetic (PG) profile and demonstrated its effects on enzyme metabolism using indapamide as an example. A multiplex mass spectrometry m ... Full text Link to item Cite

Predicting HLA genotypes using unphased and flanking single-nucleotide polymorphisms in Han Chinese population.

Journal Article BMC Genomics · January 29, 2014 BACKGROUND: Genetic variation associated with human leukocyte antigen (HLA) genes has immunological functions and is associated with autoimmune diseases. To date, large-scale studies involving classical HLA genes have been limited by time-consuming and exp ... Full text Link to item Cite

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.

Journal Article Gene · January 1, 2014 Xq28 duplications encompassing the methyl CpG binding protein 2 (MECP2) in males exhibit a distinct phenotype, including developmental delay, facial dysmorphism, muscular hypotonia, intellectual disability, poor or absent speech, recurrent infections and e ... Full text Link to item Cite

Mouse model of glycogen storage disease type III

Journal Article Molecular Genetics and Metabolism · 2014 Cite

Palmitoyl acyltransferase, Zdhhc13, facilitates bone mass acquisition by regulating postnatal epiphyseal development and endochondral ossification: a mouse model.

Journal Article PLoS One · 2014 ZDHHC13 is a member of DHHC-containing palmitoyl acyltransferases (PATs) family of enzymes. It functions by post-translationally adding 16-carbon palmitate to proteins through a thioester linkage. We have previously shown that mice carrying a recessive Zdh ... Full text Open Access Link to item Cite

Determinants of the over-anticoagulation response during warfarin initiation therapy in Asian patients based on population pharmacokinetic-pharmacodynamic analyses.

Journal Article PLoS One · 2014 UNLABELLED: To clarify pharmacokinetic-pharmacodynamic (PK-PD) factors associated with the over-anticoagulation response in Asians during warfarin induction therapy, population PK-PD analyses were conducted in an attempt to predict the time-courses of the ... Full text Link to item Cite

Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.

Journal Article Pharmacogenomics · November 2013 AIM: Acute urticaria/angioedema (AUA) induced by cross-intolerance to NSAIDs is the most frequent clinical entity in hypersensitivity reactions to drugs. In this work, we conducted a genome-wide association study in Spanish and Han Chinese patients sufferi ... Full text Link to item Cite

A new nucleic acid-based agent inhibits cytotoxic T lymphocyte-mediated immune disorders.

Journal Article J Allergy Clin Immunol · September 2013 BACKGROUND: Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and graft-versus-host disease (GVHD) are distinct immune reactions elicited by drugs or allogeneic antigens; however, they share a pathomechanism with the activation of cytotoxic ... Full text Link to item Cite

Direct assessment of articular cartilage and underlying subchondral bone reveals a progressive gene expression change in human osteoarthritic knees.

Journal Article Osteoarthritis Cartilage · March 2013 OBJECTIVE: To evaluate the interaction of articular cartilage (AC) and subchondral bone (SB) through analysis of osteoarthritis (OA)-related genes of site-matched tissue. DESIGN: We developed a novel method for isolating site-matched overlying AC and under ... Full text Link to item Cite

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

Journal Article Mol Genet Metab · February 2013 We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase alfa), an FDA approved therapy for Pompe disease, as a treatment approach for glycogen storage disease type III (GSD III). An in vitro disease model was est ... Full text Open Access Link to item Cite

Genome-wide expression profiles of subchondral bone in osteoarthritis.

Journal Article Arthritis Res Ther · 2013 INTRODUCTION: The aim of this study was to evaluate, for the first time, the differences in gene expression profiles of normal and osteoarthritic (OA) subchondral bone in human subjects. METHODS: Following histological assessment of the integrity of overly ... Full text Open Access Link to item Cite

Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility.

Journal Article PLoS One · 2013 The BLK and CD40 loci have been associated with Kawasaki disease (KD) in two genome-wide association studies (GWAS) conducted in a Taiwanese population of Han Chinese ancestry (Taiwanese) and in Japanese cohorts. Here we build on these findings with replic ... Full text Link to item Cite

Disorders of Carbohydrate Metabolism

Journal Article · January 1, 2013 Full text Cite

Inter-individual differences in baseline coagulation activities and their implications for international normalized ratio control during warfarin initiation therapy.

Journal Article Clin Pharmacokinet · December 2012 BACKGROUND AND OBJECTIVE: Genetic polymorphisms of cytochrome P450 (CYP) 2C9 (CYP2C9) and vitamin K epoxide reductase complex subunit 1 (VKORC1) and patient demographic characteristics are responsible for inter-individual differences in warfarin maintenanc ... Full text Link to item Cite

Pharmacogenomics of adverse drug reactions: implementing personalized medicine.

Journal Article Hum Mol Genet · October 15, 2012 Pharmacogenomics aims to investigate the genetic basis of inter-individual differences in drug responses, such as efficacy, dose requirements and adverse events. Research in pharmacogenomics has grown over the past decade, evolving from a candidate-gene ap ... Full text Link to item Cite

Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).

Journal Article Genet Med · September 2012 PURPOSE: Fabry disease is a rare, X-linked, inherited lysosomal storage disorder that can be treated with the enzymes agalsidasealfa (Replagal) and agalsidase beta (Fabrazyme). Currently, there is a global shortage of agalsidase beta, and this has increase ... Full text Link to item Cite

Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

Journal Article Nat Genet · July 15, 2012 Chronic kidney disease (CKD), impairment of kidney function, is a serious public health problem, and the assessment of genetic factors influencing kidney function has substantial clinical relevance. Here, we report a meta-analysis of genome-wide associatio ... Full text Link to item Cite

T-cell receptor and carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: understanding a hypersensitivity reaction.

Journal Article Expert Rev Clin Immunol · July 2012 Ample evidence exists to support the view that drug hypersensitivity is mediated by adaptive immunity, which involves MHC-restricted drug presentation, activation and clonal expansion of T cells. The specific MHC molecules implicated in hypersensitivity ha ... Full text Link to item Cite

VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era.

Journal Article Nucleic Acids Res · July 2012 VarioWatch (http://genepipe.ncgm.sinica.edu.tw/variowatch/) has been vastly improved since its former publication GenoWatch in the 2008 Web Server Issue. It is now at least 10 000-times faster in annotating a variant. Drastic speed increase, through comple ... Full text Link to item Cite

Direct interaction between HLA-B and carbamazepine activates T cells in patients with Stevens-Johnson syndrome.

Journal Article J Allergy Clin Immunol · June 2012 BACKGROUND: Increasing studies have revealed that HLA alleles are the major genetic determinants of drug hypersensitivity; however, the underlying molecular mechanism remains unclear. OBJECTIVE: We adopted the HLA-B∗1502 genetic predisposition to carbamaze ... Full text Link to item Cite

PSORS2 is due to mutations in CARD14.

Journal Article Am J Hum Genet · May 4, 2012 Psoriasis is a common, immune-mediated genetic disorder of the skin and is associated with arthritis in approximately 30% of cases. Previously, we localized PSORS2 (psoriasis susceptibility locus 2) to chromosomal region 17q25.3-qter after a genome-wide li ... Full text Link to item Cite

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.

Journal Article Mol Genet Metab · April 2012 With the advent of enzyme replacement therapy (ERT) with alglucosidase alfa (rhGAA, Myozyme®) for Pompe disease, the clinical course of the disease has changed. We have previously described the poor outcome in cross reactive immunologic material (CRIM)-neg ... Full text Link to item Cite

Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.

Journal Article Nat Genet · March 25, 2012 To find new candidate loci predisposing individuals to Kawasaki disease, an acute vasculitis that affects children, we conducted a genome-wide association study in 622 individuals with Kawasaki disease (cases) and 1,107 controls in a Han Chinese population ... Full text Link to item Cite

Replication of genome-wide association signals of type 2 diabetes in Han Chinese in a prospective cohort.

Journal Article Clin Endocrinol (Oxf) · March 2012 BACKGROUND:   A recent genome-wide association study for type 2 diabetes in Han Chinese identified several novel genetic variants. We investigated their associations with quantitative measures to explore the mechanism by which these variants influence gluc ... Full text Link to item Cite

Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

Journal Article J Child Neurol · February 2012 Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. Glycogen storage disease type IV has a broad clinical spectrum ranging from a perinat ... Full text Link to item Cite

Genome-wide association study of treatment refractory schizophrenia in Han Chinese.

Journal Article PLoS One · 2012 We report the first genome-wide association study of a joint analysis using 795 Han Chinese individuals with treatment-refractory schizophrenia (TRS) and 806 controls. Three loci showed suggestive significant association with TRS were identified. These loc ... Full text Link to item Cite

A recent update of pharmacogenomics in drug-induced severe skin reactions.

Journal Article Drug Metab Pharmacokinet · 2012 In some adverse drug reactions (ADRs), genetic predisposition plays a significant role in pathogenesis, and the skin is the most frequently reported target. These severe cutaneous ADRs include bullous fixed drug eruptions (FDE), acute generalized exanthema ... Full text Link to item Cite

Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.

Journal Article Nat Genet · December 11, 2011 We conducted a three-stage genetic study to identify susceptibility loci for type 2 diabetes (T2D) in east Asian populations. We followed our stage 1 meta-analysis of eight T2D genome-wide association studies (6,952 cases with T2D and 11,865 controls) with ... Full text Link to item Cite

Shared and restricted T-cell receptor use is crucial for carbamazepine-induced Stevens-Johnson syndrome.

Journal Article J Allergy Clin Immunol · December 2011 BACKGROUND: Stevens-Johnson syndrome (SJS) and its related disease, toxic epidermal necrolysis (TEN), are life-threatening drug hypersensitivities with robust immune responses to drugs. Despite the strong HLA predisposition to drug hypersensitivities, such ... Full text Link to item Cite

A genome-wide association study reveals a quantitative trait locus of adiponectin on CDH13 that predicts cardiometabolic outcomes.

Journal Article Diabetes · September 2011 OBJECTIVE: The plasma adiponectin level, a potential upstream and internal facet of metabolic and cardiovascular diseases, has a reasonably high heritability. Whether other novel genes influence the variation in adiponectin level and the roles of these gen ... Full text Link to item Cite

A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study.

Journal Article Ann Hum Genet · September 2011 We performed a genome-wide linkage analysis to identify susceptibility loci in a large six-generation extended family previously reported with early-onset osteoarthritis (OA) DNA sequencing was performed to investigate involvement of the COMP (Cartilage ol ... Full text Link to item Cite

The authors reply

Journal Article New England Journal of Medicine · August 18, 2011 Full text Cite

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.

Journal Article Genet Med · August 2011 PURPOSE: Enzyme replacement therapy with rhGAA (Myozyme®) has lead to improved survival, which is largely attributable to improvements in cardiomyopathy and skeletal muscle function. However, crossreactive immunologic material-negative patients have a poor ... Full text Link to item Cite

Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice.

Journal Article Pediatr Res · July 2011 Using a combination of N-ethyl-N-nitrosourea-mediated mutagenesis and metabolomics-guided screening, we identified mice with elevated blood levels of short-chain C4-acylcarnitine and increased urine isobutyryl-glycine. Genome-wide homozygosity screening, f ... Full text Link to item Cite

Molecular profile and copy number analysis of sporadic colorectal cancer in Taiwan.

Journal Article J Biomed Sci · June 7, 2011 BACKGROUND: Colorectal cancer (CRC) is a major health concern worldwide, and recently becomes the most common cancer in Asia. The case collection of this study is one of the largest sets of CRC in Asia, and serves as representative data for investigating g ... Full text Link to item Cite

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.

Journal Article Mol Genet Metab · June 2011 Enzyme replacement therapy (ERT) with acid α-glucosidase has become available for Pompe disease; however, the response of skeletal muscle, as opposed to the heart, has been attenuated. The poor response of skeletal muscle has been attributed to the low abu ... Full text Open Access Link to item Cite

Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.

Journal Article Nat Genet · June 2011 We conducted a meta-analysis of genome-wide association studies of systolic (SBP) and diastolic (DBP) blood pressure in 19,608 subjects of east Asian ancestry from the AGEN-BP consortium followed up with de novo genotyping (n = 10,518) and further replicat ... Full text Link to item Cite

Genome-wide association study of bipolar I disorder in the Han Chinese population.

Journal Article Mol Psychiatry · May 2011 We report the first genome-wide association study in 1000 bipolar I patients and 1000 controls, with a replication of the top hits in another 409 cases and 1000 controls in the Han Chinese population. Four regions with most strongly associated single-nucle ... Full text Link to item Cite

SAQC: SNP array quality control.

Journal Article BMC Bioinformatics · April 18, 2011 BACKGROUND: Genome-wide single-nucleotide polymorphism (SNP) arrays containing hundreds of thousands of SNPs from the human genome have proven useful for studying important human genome questions. Data quality of SNP arrays plays a key role in the accuracy ... Full text Link to item Cite

Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan.

Journal Article N Engl J Med · March 24, 2011 BACKGROUND: Carbamazepine, an anticonvulsant and a mood-stabilizing drug, is the main cause of the Stevens-Johnson syndrome (SJS) and its related disease, toxic epidermal necrolysis (TEN), in Southeast Asian countries. Carbamazepine-induced SJS-TEN is stro ... Full text Link to item Cite

Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.

Journal Article PLoS One · February 4, 2011 Kawasaki disease (KD) is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has th ... Full text Link to item Cite

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.

Journal Article Hum Mol Genet · February 1, 2011 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficiency in glycogen-branching enzyme (GBE1) activity that results in the accumulation of amylopectin-like polysaccharide, which presumably leads to osmotic swelling ... Full text Link to item Cite

Garlic accelerates red blood cell turnover and splenic erythropoietic gene expression in mice: evidence for erythropoietin-independent erythropoiesis.

Journal Article PLoS One · December 29, 2010 Garlic (Allium sativum) has been valued in many cultures both for its health effects and as a culinary flavor enhancer. Garlic's chemical complexity is widely thought to be the source of its many health benefits, which include, but are not limited to, anti ... Full text Link to item Cite

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Journal Article J Inherit Metab Dis · December 2010 Glycogen storage disease type IV (GSD IV; Andersen disease) is caused by a deficiency of glycogen branching enzyme (GBE), leading to excessive deposition of structurally abnormal, amylopectin-like glycogen in affected tissues. The accumulated glycogen lack ... Full text Link to item Cite

A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.

Journal Article Pharmacogenomics J · December 2010 Because angiotensin-converting enzyme (ACE) activity is implicated widely in biological systems, we aimed to identify its novel quantitative trait loci for the purposes of understanding ACE activity regulation and pharmacogenetics relating to ACE inhibitor ... Full text Link to item Cite

Overlapping high-resolution copy number alterations in cancer genomes identified putative cancer genes in hepatocellular carcinoma.

Journal Article Hepatology · November 2010 UNLABELLED: Recurrent cancer genome aberrations are indicators of residing crucial cancer genes. Although recent advances in genomic technologies have led to a global view of cancer genome aberrations, the identification of target genes and biomarkers from ... Full text Link to item Cite

Screening of ethylnitrosourea mice with fatty acid oxidation disorders by a candidate gene approach after proteome analysis

Journal Article Journal of Experimental and Clinical Medicine · October 1, 2010 Background/Purpose: Ethylnitrosourea (ENU) is an alkylating agent and primarily induces point mutations such as AT to TA transversions and AT to GC transitions. Due to its high mutagenicity, ENU mouse mutagenesis enables the generation and identification o ... Full text Cite

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.

Journal Article Hum Mol Genet · October 1, 2010 Mutations in glucose transporter 10 (GLUT10) alter angiogenesis and cause arterial tortuosity syndrome (ATS); however, the mechanisms by which these mutations cause disease remain unclear. It has been reported that in most cells, mitochondria are the major ... Full text Link to item Cite

Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome.

Journal Article Am J Med Genet A · September 2010 Interstitial deletion of 16q has emerged into a recognizable pattern of congenital malformation. We report on a 9-year-old boy with short stature, psychomotor retardation, high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck, ... Full text Link to item Cite

Pharmacogenetics of toxic epidermal necrolysis.

Journal Article Expert Opin Pharmacother · September 2010 IMPORTANCE OF THE FIELD: Toxic epidermal necrolysis (TEN) and Stevens-Johnson Syndrome (SJS) are two of the most severe drug-induced cutaneous reactions. Advances in genome technologies have allowed researchers to identify genetic markers associated with t ... Full text Link to item Cite

SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes.

Journal Article BMC Med Genet · August 25, 2010 BACKGROUND: Recent data indicate that loss-of-function mutation in the gene encoding the facilitative glucose transporter GLUT10 (SLC2A10) causes arterial tortuosity syndrome via upregulation of the TGF-β pathway in the arterial wall, a mechanism possibly ... Full text Link to item Cite

A new analysis tool for individual-level allele frequency for genomic studies.

Journal Article BMC Genomics · July 5, 2010 BACKGROUND: Allele frequency is one of the most important population indices and has been broadly applied to genetic/genomic studies. Estimation of allele frequency using genotypes is convenient but may lose data information and be sensitive to genotyping ... Full text Link to item Cite

Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.

Journal Article PLoS Genet · June 10, 2010 Protein palmitoylation has emerged as an important mechanism for regulating protein trafficking, stability, and protein-protein interactions; however, its relevance to disease processes is not clear. Using a genome-wide, phenotype driven N-ethyl-N-nitrosou ... Full text Open Access Link to item Cite

Outer membrane protein I of Pseudomonas aeruginosa is a target of cationic antimicrobial peptide/protein.

Journal Article J Biol Chem · March 19, 2010 Cationic antimicrobial peptides/proteins (AMPs) are important components of the host innate defense mechanisms against invading microorganisms. Here we demonstrate that OprI (outer membrane protein I) of Pseudomonas aeruginosa is responsible for its suscep ... Full text Link to item Cite

Common risk allele in aromatic antiepileptic-drug induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese.

Journal Article Pharmacogenomics · March 2010 AIMS: Compared with other categories of drugs, such as antibiotics and NSAIDs, antiepileptic therapies are associated with a high incidence of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). We previously reported that carbamazepine (C ... Full text Link to item Cite

A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.

Journal Article PLoS Genet · February 19, 2010 To investigate the underlying mechanisms of T2D pathogenesis, we looked for diabetes susceptibility genes that increase the risk of type 2 diabetes (T2D) in a Han Chinese population. A two-stage genome-wide association (GWA) study was conducted, in which 9 ... Full text Open Access Link to item Cite

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Journal Article Mol Genet Metab · January 2010 Deficiency of acid alpha glucosidase (GAA) causes Pompe disease, which is usually fatal if onset occurs in infancy. Patients synthesize a non-functional form of GAA or are unable to form native enzyme. Enzyme replacement therapy with recombinant human GAA ... Full text Link to item Cite

Genetic predisposition of life-threatening antiepileptic-induced skin reactions.

Journal Article Expert Opin Drug Saf · January 2010 IMPORTANCE OF THE FIELD: Recent advances in pharmacogenetic studies have uncovered increasingly more genes that predispose individuals to adverse drug reactions. Aromatic antiepileptic drugs (AEDs) are a frequent cause of severe cutaneous adverse reactions ... Full text Link to item Cite

Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.

Journal Article PLoS genetics · 2010 Protein palmitoylation has emerged as an important mechanism for regulating protein trafficking, stability, and protein-protein interactions; however, its relevance to disease processes is not clear. Using a genome-wide, phenotype driven N-ethyl-N-nitrosou ... Full text Cite

Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.

Journal Article Hum Mol Genet · December 15, 2009 Hepatocellular adenoma (HCA) is a frequent long-term complication of glycogen storage disease type I (GSD I) and malignant transformation to hepatocellular carcinoma (HCC) is known to occur in some cases. However, the molecular pathogenesis of tumor develo ... Full text Link to item Cite

Mapping human genetic diversity in Asia.

Journal Article Science · December 11, 2009 Asia harbors substantial cultural and linguistic diversity, but the geographic structure of genetic variation across the continent remains enigmatic. Here we report a large-scale survey of autosomal variation from a broad geographic sample of Asian human p ... Full text Link to item Cite

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

Journal Article Pediatrics · December 2009 OBJECTIVE: Pompe disease causes progressive, debilitating, and often life-threatening musculoskeletal, respiratory, and cardiac symptoms. Favorable outcomes with early intravenous enzyme-replacement therapy and alglucosidase alfa have been reported, but ea ... Full text Link to item Cite

Longitudinal evaluation of an N-ethyl-N-nitrosourea-created murine model with normal pressure hydrocephalus.

Journal Article PLoS One · November 17, 2009 BACKGROUND: Normal-pressure hydrocephalus (NPH) is a neurodegenerative disorder that usually occurs late in adult life. Clinically, the cardinal features include gait disturbances, urinary incontinence, and cognitive decline. METHODOLOGY/PRINCIPAL FINDINGS ... Full text Link to item Cite

A genome-wide survey of copy number variations in Han Chinese residing in Taiwan.

Journal Article Genomics · October 2009 Copy number variation (CNV) is a form of DNA sequence variation in the human genome. CNVs can affect expression of nearby and distant genes, and some of them might cause certain phenotypic differences. CNVs vary slightly in location and frequency among dif ... Full text Link to item Cite

VKORC1 haplotypes in five East-Asian populations and Indians.

Journal Article Pharmacogenomics · October 2009 AIMS: Warfarin, a widely prescribed oral anticoagulant, is used for the prevention of thromboembolism. Several polymorphisms in VKORC1 have been shown to be associated with warfarin dose requirements. The frequencies of these VKORC1 polymorphisms display p ... Full text Link to item Cite

Emerging therapies for glycogen storage disease type I.

Journal Article Trends Endocrinol Metab · July 2009 Glycogen storage disease type I (GSD I) is caused by deficiency of the glucose-6-phosphatase catalytic subunit in type Ia or of glucose-6-phosphate transporter in type Ib. The cellular bases for disruptions of homeostasis have been increasingly understood ... Full text Link to item Cite

A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene.

Journal Article Rheumatology (Oxford) · April 2009 OBJECTIVES: To characterize a large extended family with early-onset OA of the knee and investigate its associations with the COL2A1 gene. METHODS: Phenotype assessments were conducted in a six-generation family to identify individuals affected with OA. Sh ... Full text Link to item Cite

Novel DNA sequence variations of cytochrome P450 genes in the Han Chinese population.

Journal Article Pharmacogenomics · March 2009 AIM: Cytochrome P450 is an important monooxygenase responsible for the metabolism of a large variety of structurally diverse compounds. The aim of this study was to systematically investigate the DNA sequence variations in 14 cytochrome P450 genes relevant ... Full text Link to item Cite

Mutations in the SLC2A10 gene cause arterial abnormalities in mice.

Journal Article Cardiovasc Res · February 1, 2009 AIMS: Glucose transporter 10 (GLUT10), encoded by the SLC2A10 gene, is a member of the class III facilitative glucose transporter family. Mutations in the SLC2A10 gene cause arterial tortuosity syndrome (ATS) in humans. To further study the pathogenesis of ... Full text Link to item Cite

Gene therapy for inherited metabolic disorders in companion animals.

Journal Article ILAR J · 2009 Scientists first described inborn errors of metabolism, also termed inherited disorders of metabolism, early in the 20th century and since then have determined the biochemical and genetic bases of a great number of these disorders both in humans and in an ... Full text Link to item Cite

Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.

Journal Article PLoS One · 2009 Young-onset hypertension has a stronger genetic component than late-onset counterpart; thus, the identification of genes related to its susceptibility is a critical issue for the prevention and management of this disease. We carried out a two-stage associa ... Full text Link to item Cite

A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan.

Journal Article BMC Genet · December 24, 2008 BACKGROUND: Copy number variations (CNVs) have recently been recognized as important structural variations in the human genome. CNVs can affect gene expression and thus may contribute to phenotypic differences. The copy number inferring tool (CNIT) is an e ... Full text Link to item Cite

Functional analysis of novel SNPs and mutations in human and mouse genomes.

Journal Article BMC Bioinformatics · December 12, 2008 BACKGROUND: With the flood of information generated by the new generation of sequencing technologies, more efficient bioinformatics tools are needed for in-depth impact analysis of novel genomic variations. FANS (Functional Analysis of Novel SNPs) was deve ... Full text Link to item Cite

Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis.

Journal Article Nat Med · December 2008 Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening adverse drug reactions characterized by massive epidermal necrosis, in which the specific danger signals involved remain unclear. Here we show that blister cells from ... Full text Link to item Cite

Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.

Journal Article Pediatr Cardiol · November 2008 BACKGROUND: Infantile Pompe disease (glycogen storage disease type 2) is a fatal disorder caused by deficiency of acid alpha-glucosidase. This deficiency results in glycogen accumulation in the lysosomes of many tissues including cardiac muscle. The diseas ... Full text Link to item Cite

Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling.

Journal Article Hum Mutat · August 2008 Copy number variation (CNV) has become an important genomic structure element in the human population, and some CNVs are related to specific traits and diseases. Moreover, analysis of human genomes has been potentiated by the use of high-resolution microar ... Full text Link to item Cite

GenoWatch: a disease gene mining browser for association study.

Journal Article Nucleic Acids Res · July 1, 2008 A human gene association study often involves several genomic markers such as single nucleotide polymorphisms (SNPs) or short tandem repeat polymorphisms, and many statistically significant markers may be identified during the study. GenoWatch can efficien ... Full text Link to item Cite

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

Journal Article Pediatrics · July 2008 OBJECTIVE: Pompe disease is an autosomal recessive lysosomal storage disorder that is caused by deficient acid alpha-glucosidase activity and results in progressive, debilitating, and often life-threatening symptoms involving the musculoskeletal, respirato ... Full text Link to item Cite

Prospective study of warfarin dosage requirements based on CYP2C9 and VKORC1 genotypes.

Journal Article Clin Pharmacol Ther · July 2008 Polymorphisms in CYP2C9 and VKORC1 have been shown to be associated with warfarin dose requirements and could be used to predict warfarin dose. We conducted a prospective study in which warfarin dose was prescribed based on CYP2C9 and VKORC1 polymorphisms ... Full text Link to item Cite

A promoter sequence variant of ZNF750 is linked with familial psoriasis.

Journal Article J Invest Dermatol · July 2008 We previously mapped a psoriasis-susceptibility gene to a 3.8-Mb region of the 17q terminus in a five-generation Chinese family with autosomal-dominant psoriasis. To identify the mutations responsible for the psoriasis in this family, we sequenced 78 genes ... Full text Link to item Cite

MPDA: microarray pooled DNA analyzer.

Journal Article BMC Bioinformatics · April 15, 2008 BACKGROUND: Microarray-based pooled DNA experiments that combine the merits of DNA pooling and gene chip technology constitute a pivotal advance in biotechnology. This new technique uses pooled DNA, thereby reducing costs associated with the typing of DNA ... Full text Link to item Cite

AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia.

Journal Article Mol Ther · April 2008 Glycogen storage disease type Ia (GSD-Ia) profoundly impairs glucose release by the liver due to glucose-6-phosphatase (G6Pase) deficiency. An adeno-associated virus (AAV) containing a small human G6Pase transgene was pseudotyped with AAV8 (AAV2/8) to opti ... Full text Link to item Cite

A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.

Journal Article J Child Neurol · March 2008 Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant ... Full text Link to item Cite

Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

Journal Article Genomic Medicine · January 1, 2008 Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast ... Full text Cite

Sibling phenotype concordance in classical infantile Pompe disease.

Journal Article Am J Med Genet A · November 1, 2007 Pompe disease (acid-alpha-glucosidase deficiency) encompasses a clinical spectrum, ranging from severe infantile-onset disease with clinical symptoms appearing before 1 year of age with rapid progression to an early death, to late-onset disease with a much ... Full text Link to item Cite

Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.

Journal Article Am J Hum Genet · November 2007 Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal enzyme acid alpha -glucosidase (GAA) (also called "acid maltase"), causes death in early childhood related to glycogen accumulation in striated muscle and an ... Full text Link to item Cite

HLA-B*1502-bound peptides: implications for the pathogenesis of carbamazepine-induced Stevens-Johnson syndrome.

Journal Article J Allergy Clin Immunol · October 2007 BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) can involve MHC-restricted presentation of a drug or its metabolites for T-cell activation. HLA-B(*)1502 tightly associated with carbamazepine (CBZ) induced these conditions in ... Full text Link to item Cite

Human leukocyte antigens and drug hypersensitivity.

Journal Article Curr Opin Allergy Clin Immunol · August 2007 PURPOSE OF REVIEW: The present article reviews the recent literature on the identification of human leukocyte antigen (HLA) alleles as major susceptible genes for drug hypersensitivity and discusses the clinical implications. RECENT FINDINGS: Several recen ... Full text Link to item Cite

Efficacy of helper-dependent adenovirus vector-mediated gene therapy in murine glycogen storage disease type Ia.

Journal Article Mol Ther · July 2007 Genetic deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, also known as von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia and growth r ... Full text Link to item Cite

PrimerZ: streamlined primer design for promoters, exons and human SNPs.

Journal Article Nucleic Acids Res · July 2007 PrimerZ (http://genepipe.ngc.sinica.edu.tw/primerz/) is a web application dedicated primarily to primer design for genes and human SNPs. PrimerZ accepts genes by gene name or Ensembl accession code, and SNPs by dbSNP rs or AFFY_Probe IDs. The promoter and ... Full text Link to item Cite

Genetics of severe drug hypersensitivity reactions in Han Chinese

Journal Article · May 31, 2007 Drug hypersensitivity, an immune-related idiosyncratic ad-verse reaction, was historically referred to as being unpre-dictable. However, recent studies in Han Chinese have re-vealed that several types of severe drug hypersensitivity reactions have a strong ... Full text Cite

Fractures in children with Pompe disease: a potential long-term complication.

Journal Article Pediatr Radiol · May 2007 BACKGROUND: Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiome ... Full text Link to item Cite

Glycogen storage disease types I and II: treatment updates.

Journal Article J Inherit Metab Dis · April 2007 Prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, lon ... Full text Link to item Cite

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Journal Article J Hepatol · March 2007 BACKGROUND/AIMS: Glycogen storage disease III (GSD III) is caused by a deficiency of glycogen-debranching enzyme which causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure (short outer chains resembling limit dextr ... Full text Link to item Cite

Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease.

Journal Article Hum Mol Genet · March 1, 2007 Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a CAG trinucleotide expansion in the Huntingtin (Htt) gene. Using two mouse models of HD, we demonstrate that the urea cycle deficiency characterized by hyperammonemia, ... Full text Link to item Cite

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

Journal Article Neurology · January 9, 2007 BACKGROUND: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and ... Full text Link to item Cite

Glycogen storage disease type IIIa in curly-coated retrievers.

Journal Article J Vet Intern Med · 2007 BACKGROUND: Inborn errors of metabolism impose a significant genetic burden on purebred dogs and cats. The glycogen storage diseases are a category of such disorders that are typed by enzyme analysis, but deoxyribonucleic acid (DNA) based carrier tests are ... Full text Link to item Cite

ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit.

Journal Article Hum Mol Genet · December 15, 2006 Using the metabolomics-guided screening coupled to N-ethyl-N-nitrosourea-mediated mutagenesis, we identified mice that exhibited elevated levels of long-chain acylcarnitines. Whole genome homozygosity mapping with 262 SNP markers mapped the disease gene to ... Full text Link to item Cite

Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.

Journal Article Mol Ther · December 2006 Glycogen storage disease type II (GSD-II; Pompe disease; MIM 232300) is an inherited muscular dystrophy caused by deficiency in the activity of the lysosomal enzyme acid alpha-glucosidase (GAA). We hypothesized that chimeric GAA containing an alternative s ... Full text Link to item Cite

Long contiguous stretches of homozygosity in the human genome.

Journal Article Hum Mutat · November 2006 Single nucleotide polymorphisms (SNPs) are the most common sequence variation in the human genome; they have been successfully used in mapping disease genes and more recently in studying population genetics and cancer genetics. In a population-based associ ... Full text Link to item Cite

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.

Journal Article J Med Genet · October 2006 The SCN5A mutations have been associated with a variety of arrhythmic disorders, including type 3 long QT syndrome (LQT3), Brugada syndrome and inherited cardiac conduction defects. The relationship between genotype and phenotype in SCN5A mutations is comp ... Full text Link to item Cite

Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia.

Journal Article Gene Ther · September 2006 The deficiency of glucose-6-phosphatase (G6Pase) underlies life-threatening hypoglycemia and growth retardation in glycogen storage disease type Ia (GSD-Ia). An adeno-associated virus (AAV) vector encoding G6Pase was pseudotyped as AAV8 and administered to ... Full text Link to item Cite

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

Journal Article J Pediatr · July 2006 OBJECTIVE: To conduct an open-label, multinational, multicenter study examining the safety and efficacy of recombinant human acid alpha-glucosidase (rhGAA) in treatment of infantile-onset Pompe disease. STUDY DESIGN: We enrolled 8 infant patients who had P ... Full text Link to item Cite

FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.

Journal Article Nucleic Acids Res · July 1, 2006 Single nucleotide polymorphism (SNP) prioritization based on the phenotypic risk is essential for association studies. Assessment of the risk requires access to a variety of heterogeneous biological databases and analytical tools. FASTSNP (function analysi ... Full text Link to item Cite

A comparison of major histocompatibility complex SNPs in Han Chinese residing in Taiwan and Caucasians.

Journal Article J Biomed Sci · July 2006 Genetic dissection of complex diseases is both important and challenging. The human major histocompatibility complex is involved in many human diseases and genetic mechanisms. This highly polymorphic chromosome region has been extensively studied in Caucas ... Full text Link to item Cite

Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population.

Journal Article Diabetologia · June 2006 AIMS/HYPOTHESIS: The gene encoding solute carrier family 2, facilitated glucose transporter, member 10 (SLC2A10, previously known as glucose transporter 10 [GLUT10]) is a promising candidate gene for type 2 diabetes since it is highly expressed in liver an ... Full text Link to item Cite

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

Journal Article Genet Med · May 2006 PURPOSE: Electrocardiogram (ECG) abnormalities are universal in infantile Pompe disease or glycogen storage disease type II, a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA). Hallmarks of this disease include a shortened ... Full text Link to item Cite

Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease.

Journal Article Genet Med · May 2006 PURPOSE: Infantile Pompe disease is caused by deficiency of lysosomal acid alpha-glucosidase. Trials with recombinant human acid alpha-glucosidase enzyme replacement therapy (ERT) show a decrease in left ventricular mass and improved function. We evaluated ... Full text Link to item Cite

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.

Journal Article Genet Med · May 2006 PURPOSE: The study's purpose was to compare acarbose and maltose as inhibitors of maltase-glucoamylase activity for determining acid alpha-glucosidase activity in dried blood spot specimens for early identification of patients with infantile Pompe disease, ... Full text Link to item Cite

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Journal Article Am J Med Genet A · April 15, 2006 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a deficiency in the activity of the glycogen branching enzyme (GBE). A deficiency in GBE activity results in the accumulation of glycogen with fewer branching point ... Full text Link to item Cite

Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions.

Journal Article Pharmacogenet Genomics · April 2006 The anticonvulsant carbamazepine (CBZ) frequently causes cutaneous adverse drug reactions (cADRs), including maculopapular eruption (MPE), hypersensitivity syndrome (HSS), Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). We reported tha ... Full text Link to item Cite

Comparison of heart failure in children with enterovirus 71 rhombencephalitis and cats with norepinephrine cardiotoxicity.

Journal Article Pediatr Cardiol · 2006 The mechanism of heart failure in patients with enterovirus 71 rhombencephalitis (brain stem encephalitis) remains unknown. Our previous reports hypothesized that a catecholamine storm induced by rhombencephalitis may account for the heart failure. The aim ... Full text Link to item Cite

A genome-wide study of preferential amplification/hybridization in microarray-based pooled DNA experiments.

Journal Article Nucleic Acids Res · 2006 Microarray-based pooled DNA methods overcome the cost bottleneck of simultaneously genotyping more than 100 000 markers for numerous study individuals. The success of such methods relies on the proper adjustment of preferential amplification/hybridization ... Full text Link to item Cite

Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.

Journal Article Mol Ther · November 2005 Glycogen storage disease type II (GSD-II; Pompe disease) is caused by a deficiency of acid alpha-glucosidase (GAA; acid maltase) and manifests as muscle weakness, hypertrophic cardiomyopathy, and respiratory failure. Adeno-associated virus vectors containi ... Full text Link to item Cite

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.

Journal Article Mol Genet Metab · August 2005 A tetraglucose oligomer, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc, designated Glc4, has been shown to be a putative biomarker for the diagnosis of Pompe disease. The purpose of this study was to assess whether Glc4 could be used to monitor the therapeutic resp ... Full text Link to item Cite

A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.

Journal Article Hum Mol Genet · July 1, 2005 Warfarin, a commonly prescribed anticoagulant, exhibited large inter-individual and inter-ethnic differences in the dose required for its anticoagulation effect. Asian populations, including Chinese, require a much lower maintenance dose than Caucasians, f ... Full text Link to item Cite

Type II collagen gene variants and inherited osteonecrosis of the femoral head.

Journal Article N Engl J Med · June 2, 2005 BACKGROUND: Avascular necrosis of the femoral head (ANFH) causes disability that often requires surgical intervention. Most cases of ANFH are sporadic, but we identified three families in which there was autosomal dominant inheritance of the disease and ma ... Full text Link to item Cite

Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.

Journal Article Pediatr Transplant · April 2005 We report a 17-month-old female patient with a rare cause of cardiomyopathy secondary to accumulation of amylopectin-like material (fibrillar glycogen) isolated to the heart. Evidence of amylopectinosis isolated to cardiac myocytes in this patient was demo ... Full text Link to item Cite

HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.

Journal Article Proc Natl Acad Sci U S A · March 15, 2005 Allopurinol, a commonly prescribed medication for gout and hyperuricemia, is a frequent cause of severe cutaneous adverse reactions (SCAR), which include the drug hypersensitivity syndrome, Stevens-Johnson syndrome, and toxic epidermal necrolysis. The adve ... Full text Link to item Cite

Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA.

Journal Article J Gene Med · February 2005 BACKGROUND: Glycogen storage disease II (GSD-II) is an autosomal recessive lysosomal storage disease, due to acid-alpha-glucosidase (GAA) deficiency. The disease is characterized by massive glycogen accumulation in the cardiac and skeletal muscles. There i ... Full text Link to item Cite

Mapping of psoriasis to 17q terminus.

Journal Article J Med Genet · February 2005 Full text Link to item Cite

Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.

Journal Article J Inherit Metab Dis · 2005 We present a series of 8 patients (6 males, 2 females) with hepatocellular carcinoma (HCC) and glycogen storage disease type Ia (GSD Ia). In this group, the age at which treatment was initiated ranged from birth to 39 years (mean 9.9 years). All patients b ... Full text Link to item Cite

Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.

Journal Article Mol Ther · January 2005 Glycogen storage disease type II (GSD-II; Pompe disease) causes death in infancy from cardiorespiratory failure. The underlying deficiency of acid alpha-glucosidase (GAA; acid maltase) can be corrected by liver-targeted gene therapy in GSD-II, if secretion ... Full text Link to item Cite

Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.

Journal Article Gene Ther · November 2004 Glycogen storage disease type II (GSD-II) is a lysosomal storage disorder in which the lack of human acid-alpha glucosidase (hGAA) activity results in massive accumulations of glycogen in cardiac and skeletal muscle fibers. Affected individuals die of card ... Full text Link to item Cite

Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.

Journal Article Pediatrics · October 2004 We report a patient with Pompe disease who developed reversible nephrotic syndrome during prolonged, high-dose, experimental, enzyme replacement therapy with recombinant human acid alpha-glucosidase (rhGAA). Because of the development of antibodies to rhGA ... Full text Link to item Cite

Glycogen debranching enzyme is associated with rat skeletal muscle sarcoplasmic reticulum.

Journal Article Acta Physiol Scand · June 2004 AIMS: Gel electrophoresis revealed a band of molecular weight approximately 160 000 Da associated with the skeletal muscle sarcoplasmic reticulum (SR) vesicle preparations. This investigation sought to examine glycogen debranching enzyme associated with sk ... Full text Link to item Cite

Hypertension and impaired glycine handling in mice lacking the orphan transporter XT2.

Journal Article Mol Cell Biol · May 2004 A family of orphan transporters has been discovered that are structurally related to the Na(+)-Cl(-)-dependent neurotransmitter transporters, including the dopamine transporter. One member of this family, the mouse XT2 gene, is predominantly expressed in t ... Full text Link to item Cite

Medical genetics: a marker for Stevens-Johnson syndrome.

Journal Article Nature · April 1, 2004 Stevens-Johnson syndrome and the related disease toxic epidermal necrolysis are life-threatening reactions of the skin to particular types of medication. Here we show that there is a strong association in Han Chinese between a genetic marker, the human leu ... Full text Link to item Cite

ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.

Journal Article J Clin Invest · February 2004 Tandem mass spectrometry was applied to detect derangements in the pathways of amino acid and fatty acid metabolism in N-ethyl-N-nitrosourea-treated (ENU-treated) mice. We identified mice with marked elevation of blood branched-chain amino acids (BCAAs), k ... Full text Link to item Cite

Medical genetics: a marker for Stevens-Johnson syndrome.

Journal Article Nature · 2004 Stevens-Johnson syndrome and the related disease toxic epidermal necrolysis are life-threatening reactions of the skin to particular types of medication. Here we show that there is a strong association in Han Chinese between a genetic marker, the human leu ... Cite

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

Journal Article Pediatr Res · August 2003 Tandem mass spectrometry was adopted for newborn screening by North Carolina in April 1999. Since then, three infants with short-chain acyl-CoA dehydrogenase (SCAD) and one with isobutyryl-CoA dehydrogenase deficiency were detected on the basis of elevated ... Full text Link to item Cite

Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry.

Journal Article Anal Biochem · May 15, 2003 Patients with glycogen storage disease type II (GSD II) typically excrete increased amounts of a glycogen-derived glucose tetrasaccharide, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc (Glc(4)), in the urine. With the advent of a new enzyme replacement therapy for ... Full text Link to item Cite

Multiple muscles in the AMD quail can be "cross-corrected" of pathologic glycogen accumulation after intravenous injection of an [E1-, polymerase-] adenovirus vector encoding human acid-alpha-glucosidase.

Journal Article J Gene Med · May 2003 BACKGROUND: Previously, in murine models of acid maltase deficiency (AMD), we demonstrated that intravenous administration of an improved adenovirus (Ad) vector encoding human acid alpha glucosidase (hGAA) resulted in liver transduction, followed by high-l ... Full text Link to item Cite

Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector.

Journal Article Mol Ther · April 2003 We have developed an improved method for packaging adeno-associated virus (AAV) vectors with a replication-defective adenovirus-AAV (Ad-AAV) hybrid virus. The AAV vector encoding human acid alpha-glucosidase (hGAA) was cloned into an E1, polymerase/preterm ... Full text Link to item Cite

Long-term correction of glycogen storage disease type II with a hybrid Ad-AAV vector.

Journal Article Mol Ther · February 2003 We administered an adenovirus-adeno-associated virus (Ad-AAV) vector encoding human acid alpha-glucosidase (hGAA) to acid alpha-glucosidase-knockout (GAA-KO) mice on day 3 of life by gastrocnemius injection. In contrast to previous results for muscle-targe ... Full text Link to item Cite

Tissue-specific inactivation of murine M6P/IGF2R.

Journal Article Am J Pathol · January 2003 The mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) encodes a multifunctional protein involved in lysosomal enzyme trafficking, fetal organogenesis, tumor suppression, and T cell- mediated immunity. M6P/IGF2R is an imprinted gene in m ... Full text Link to item Cite

Isomeric oligosaccharide analysis using hydrophilic interaction LC-ESI-MS/MS

Journal Article Proceedings 50th ASMS Conference on Mass Spectrometry and Allied Topics · December 1, 2002 A hydrophilic interaction liquid chromatography electrospray ionization mass spectrometry (LC-ESI-MS/MS) method was established for the separation and analysis of hexose tetrasaccharide linkage isomers in urine, plasma and blood spots. Using the LC-ESI-MS/ ... Cite

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Journal Article Eur J Pediatr · October 2002 UNLABELLED: Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hy ... Full text Link to item Cite

Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.

Journal Article Am J Med Genet · August 8, 2002 The purpose of the study was to consider MRI hyperintensities as a potential endophenotype for bipolar disorder (BPD) and to investigate Notch3 (CADASIL) as a candidate gene for BPD. MRI scans were performed on 21 members of a family with a high incidence ... Full text Link to item Cite

Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors.

Journal Article Gene Ther · August 2002 Therapy in glycogen storage disease type Ia (GSD Ia), an inherited disorder of carbohydrate metabolism, relies on nutritional support that postpones but fails to prevent long-term complications of GSD Ia. In the canine model for GSD Ia, we evaluated the po ... Full text Link to item Cite

Nomenclature of the GLUT/SLC2A family of sugar/polyol transport facilitators.

Journal Article Am J Physiol Endocrinol Metab · April 2002 The recent identification of several additional members of the family of sugar transport facilitators (gene symbol SLC2A, protein symbol GLUT) has created a heterogeneous and, in part, confusing nomenclature. Therefore, this letter provides a summary of th ... Full text Link to item Cite

Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction.

Journal Article Mol Ther · April 2002 Lysosomal storage diseases are an intriguing target for gene therapy approaches, as transduction of a "depot" organ with a transgene encoding a lysosomal enzyme can be followed by secretion, systemic distribution, downstream uptake, and lysosomal targeting ... Full text Link to item Cite

Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

Journal Article Curr Mol Med · March 2002 Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders with an incidence of 1 in 100,000. The two major subtypes are GSD-Ia (MIM232200), caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib (MIM232220), caused b ... Full text Link to item Cite

Molecular characterization of glycogen storage disease type III.

Journal Article Curr Mol Med · March 2002 Deficiency of the glycogen debranching enzyme (gene, AGL) causes glycogen storage disease type III (GSD-III), an autosomal recessive disease affecting glycogen metabolism. Most GSD-III patients have AGL deficiency in both the liver and muscle (type IIIa), ... Full text Link to item Cite

Regulation of Kv1 subunit expression in oligodendrocyte progenitor cells and their role in G1/S phase progression of the cell cycle.

Journal Article Proc Natl Acad Sci U S A · February 19, 2002 Proliferative oligodendrocyte progenitor cells (OPs) express large, delayed outward-rectifying K(+) currents (I(K)), whereas nondividing immature and mature oligodendrocytes display much smaller I(K). Here, we show that up-regulation of I(K) occurs in G(1) ... Full text Link to item Cite

Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation

Conference European Journal of Pediatrics, Supplement · January 1, 2002 Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia ... Full text Cite

Hepatic storage of glycogen in Niemann-Pick disease type B.

Journal Article J Pediatr · June 2001 We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens. These cases emphasize the importance of a complete evaluation, including biochemica ... Full text Link to item Cite

Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice.

Journal Article Hum Gene Ther · May 20, 2001 Glycogen storage disease type II (GSD-II) is a lethal, autosomal recessive metabolic myopathy caused by a lack of acid-alpha-glucosidase (GAA) activity in the cardiac and skeletal muscles. Absence of adequate intralysosomal GAA activity results in massive ... Full text Link to item Cite

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.

Journal Article Eur J Hum Genet · May 2001 Glycogen storage disease type IIIA (GSD IIIA) is caused by mutations of the amyloglucosidase gene (AGL). For most populations, none of the AGL mutations described to date is particularly frequent. In this paper, we report that six children with GSD IIIA fr ... Full text Link to item Cite

Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.

Journal Article Genomics · February 15, 2001 Non-insulin-dependent diabetes mellitus (NIDDM) is a multifactoral disease with both environmental and genetics causes. Genome-wide screening procedures have identified several susceptibility loci for NIDDM within the human genome. We describe the cloning ... Full text Link to item Cite

Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia).

Journal Article Vet Pathol · January 2001 A canine model of glycogen storage disease Ia (GSD Ia), similar clinically, biochemically, and pathologically to the human disease, was established by crossbreeding Maltese and Beagle dogs carrying a mutated, defective glucose-6-phosphatase (G-6-Pase) gene ... Full text Link to item Cite

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.

Journal Article Genet Med · 2001 PURPOSE: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA). The purpose of this study was to investigate the safety and efficacy of recombinant human GAA (rhGAA) enzy ... Link to item Cite

Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.

Journal Article Anal Biochem · December 1, 2000 A HPLC method associated with butyl-p-aminobenzoate derivatization has been developed for the analysis of a tetraglucose oligomer, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc, designated Glc(4), in biological fluids. This tetraglucose, normally excreted in the ur ... Full text Link to item Cite

Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.

Journal Article Pediatr Res · September 2000 Glycogen storage disease type 1a (GSD 1a) is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase). A variant (GSD 1b) is caused by a defect in the transport of glucose-6-phosphate (G6P) into the microsome and is associated with chronic neutr ... Full text Link to item Cite

Towards a molecular therapy for glycogen storage disease type II (Pompe disease).

Journal Article Mol Med Today · June 2000 Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase, a glycogen-degrading lysosomal enzyme. Currently, there is no treatment for this fatal disorder. Ho ... Full text Link to item Cite

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Journal Article J Inherit Metab Dis · February 2000 Mitochondrial fatty acid oxidation disorders cause hypoglycaemia, hepatic dysfunction, myopathy, cardiomyopathy and encephalopathy. Despite their recognition for more than 15 years, diagnosis and treatment remain difficult. To help design rational diagnost ... Full text Link to item Cite

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.

Journal Article Mol Genet Metab · January 2000 Deficiency of glycogen debranching enzyme (AGL) activity causes glycogen storage disease type III (GSD-III). Generalized loss of AGL activity results in GSD-IIIa, and muscle-specific retention of AGL activity results in GSD-IIIb. To date, no common mutatio ... Full text Link to item Cite

Liver transplantation for glycogen storage disease types I, III, and IV.

Journal Article Eur J Pediatr · December 1999 UNLABELLED: Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. The possible development of hepatocellular carcinoma and/or hepatic failure make these GSDs potential candidates for liver transplantation. Early d ... Full text Link to item Cite

Nutritional deficiencies in a patient with glycogen storage disease type Ib.

Journal Article J Inherit Metab Dis · October 1999 The current mainstay of treatment in glycogen storage disease type I (GSD I) is dietary management that includes providing a frequent source of glucose to prevent hypoglycaemia. To ensure compliance, routine follow-up by a health care team, including a die ... Full text Link to item Cite

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.

Journal Article Prenat Diagn · September 1999 Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinically, GSD-IV has variable clinical presentations ranging from a fatal neonatal neuromuscular disease, to a progressive liver cirrhosis form, and to a m ... Full text Link to item Cite

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Journal Article Eur J Hum Genet · September 1999 The purpose of this work was to test the hypothesis that mutations in the putative glucose 6-phosphate translocase gene would account for most of the cases of GSD I that are not explained by mutations in the phosphohydrolase gene, ie that are not type Ia. ... Full text Link to item Cite

Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase.

Journal Article Proc Natl Acad Sci U S A · August 3, 1999 This report demonstrates that a single intravenous administration of a gene therapy vector can potentially result in the correction of all affected muscles in a mouse model of a human genetic muscle disease. These results were achieved by capitalizing both ... Full text Link to item Cite

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

Journal Article Am J Hum Genet · October 1998 Glycogen-storage diseases type I (GSD type I) are due to a deficiency in glucose-6-phosphatase, an enzymatic system present in the endoplasmic reticulum that plays a crucial role in blood glucose homeostasis. Unlike GSD type Ia, types Ib and Ic are not due ... Full text Link to item Cite

Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

Journal Article J Inherit Metab Dis · April 1998 Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme (AGL). We report the finding of two new mutations in a GSD IIIa Ashkenazi Jewish patient. Both mutations are insertion of ... Full text Link to item Cite

Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.

Journal Article Pediatr Res · March 1998 Acid alpha-glucosidase (GAA) deficiency causes Pompe disease, a lethal lysosomal glycogen storage disease for which no effective treatment currently exists. We investigated the endocytic process in deficient cells of human recombinant GAA produced in Chine ... Full text Link to item Cite

Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.

Journal Article J Clin Invest · February 15, 1998 Pompe disease is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase (GAA), a glycogen degrading lysosomal enzyme. GAA-deficient (AMD) Japanese quails exhibit progressive myopathy and cannot lift their wings, fly, or right them ... Full text Link to item Cite

Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.

Journal Article Prenat Diagn · January 1998 Deficiency of glycogen debranching enzyme gene (AGL) causes glycogen storage disease type III (GSD-III), an autosomal recessive disease. Prenatal diagnosis and carrier detection using enzymatic methods are technically difficult and have limited ability to ... Full text Link to item Cite

Molecular cloning of acid alpha-glucosidase cDNA of Japanese quail (Coturnix coturnix japonica) and the lack of its mRNA in acid maltase deficient quails.

Journal Article Biochim Biophys Acta · December 31, 1997 Acid alpha-glucosidase (GAA) hydrolyzes alpha-1, 4 and alpha-1, 6 glucosidic linkages of oligosaccharides and degrades glycogen in the lysosomes. The full-length GAA I cDNA, pQAM8, was isolated from a cDNA library derived from Japanese quail liver. The cDN ... Full text Link to item Cite

Purification of recombinant human precursor acid alpha-glucosidase.

Journal Article Biochem Mol Biol Int · October 1997 Large quantities of recombinant acid alpha-glucosidase are needed for in vivo experimentation of enzyme replacement therapy in Pompe disease. We describe a new purification method for the purification of this recombinant enzyme from tissue culture medium c ... Full text Link to item Cite

Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms.

Journal Article Gene · September 15, 1997 Glycogen storage disease type III (GSD-III) is caused by a deficiency of glycogen debranching enzyme (AGL) activity. Patients are found to have deficient AGL activity in both muscle and liver, and also enzyme deficiency in the liver, but not in muscle. To ... Full text Link to item Cite

Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia.

Journal Article Biochem Mol Med · August 1997 Two Maltese puppies with massive hepatomegaly and failure to thrive had isolated deficient glucose-6-phosphatase (G-6-Pase) activity in liver and kidney and pathological findings compatible with GSD-Ia. To identify the mutation, we cloned G-6-Pase canine c ... Full text Link to item Cite

Preliminary evidence of linkage of salt sensitivity in black Americans at the beta 2-adrenergic receptor locus.

Journal Article Hypertension · April 1997 Salt sensitivity is a heritable trait that is a hallmark of hypertension in black Americans. Genes encoding adrenergic receptors are candidate loci for the inheritance of this hypertension-related trait because of the role of these receptors in the regulat ... Full text Link to item Cite

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

Journal Article Eur J Hum Genet · 1997 Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen-debranching enzyme (AGL). The overall incidence of the disease is about 1:100,000 life births in the USA; however, it is unusually frequent a ... Link to item Cite

Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

Journal Article J Med Genet · January 1997 Glycogen storage disease type III (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. We identified three polymorphic markers in the GDE gene using single strand conformation polymorphism (SSCP) ana ... Full text Link to item Cite

A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.

Journal Article Hum Mutat · 1997 Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (GDE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe c ... Full text Link to item Cite

Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.

Journal Article Genomics · December 1, 1996 Glycogen debranching enzyme (gene symbol, AGL) is a multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation. Genetic deficiency of AGL activity causes glycogen s ... Full text Link to item Cite

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Journal Article J Med Genet · September 1996 It is now well established that defects in fibrillin-1 (FBN1) cause the variable and pleiotropic features of Marfan syndrome (MFS) and, at the most severe end of its clinical spectrum, neonatal Marfan syndrome (nMFS). Patients with nMFS have mitral and tri ... Full text Link to item Cite

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

Journal Article J Clin Invest · July 15, 1996 Glycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. Most GSD-III patients are GDE deficient in both liver and muscle (type IIIa), and some GSD-III patients have GDE ... Full text Link to item Cite

Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells.

Journal Article Biochem Mol Biol Int · July 1996 Glycogen debranching enzyme and acid alpha-glucosdase are responsible for glycogen degradation in human. The formal enzyme is a multifunctional enzyme with two independent catalytic activities occurring on a single polypeptide, while the latter is a lysoso ... Full text Link to item Cite

Association of hypertension with beta2- and alpha2c10-adrenergic receptor genotype.

Journal Article Hypertension · June 1996 The adrenergic receptors have been implicated in the pathogenesis of essential hypertension. We hypothesized that hypertension is associated with variants at the beta2-adrenergic receptor locus and at one of the alpha2-adrenergic receptor loci. In unrelate ... Full text Link to item Cite

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Journal Article J Clin Invest · February 15, 1996 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branching enzyme (GBE) activity. The classic and most common form is progressive liver cirrhosis and failure leading to either liver transplantati ... Full text Link to item Cite

High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease.

Journal Article Proc Natl Acad Sci U S A · January 9, 1996 Infantile Pompe disease is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase, a glycogen-degrading lysosomal enzyme. We constructed a plasmid containing a 5'-shortened human acid alpha-glucosidase cDNA driven by the cytomegal ... Full text Link to item Cite

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.

Journal Article J Inherit Metab Dis · 1996 The classic clinical presentation for type IV glycogen storage disease (branching enzyme deficiency, GSD IV) is hepatosplenomegaly with failure to thrive occurring in the first 18 months of life, followed by progressive liver failure and death by age 5 yea ... Full text Link to item Cite

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

Journal Article Am J Hum Genet · October 1995 Diagnosis of glycogen storage disease (GSD) type 1a currently is established by demonstrating the lack of glucose-6-phosphatase (G6Pase) activity in the patient's biopsied liver specimen. Recent cloning of the G6Pase gene and identification of mutations wi ... Link to item Cite

Glycogen storage disease type Ia in two littermate Maltese puppies.

Journal Article Vet Pathol · September 1995 Glycogen storage disease type Ia (GSD-Ia) (von Gierke's disease) was identified in two 47-day-old littermate Maltese puppies. The puppies were presented for necropsy with a history of failure to thrive, mental depression, and poor body condition. Gross fin ... Full text Link to item Cite

Renal involvement in type I glycogen storage disease.

Journal Article Adv Nephrol Necker Hosp · 1995 Link to item Cite

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

Journal Article J Clin Invest · January 1995 Glycogen storage disease (GSD) type 1, which is caused by the deficiency of glucose-6-phosphatase (G6Pase), is an autosomal recessive disease with heterogenous symptoms. Two models of G6Pase catalysis have been proposed to explain the observed heterogeneit ... Full text Link to item Cite

Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

Journal Article Am J Hum Genet · June 1994 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most commonly recognized defect of the mitochondrial beta-oxidation in humans. It is a potentially fatal, autosomal recessive inherited defect. Most patients with MCAD deficiency are homozygous f ... Link to item Cite

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.

Journal Article Acta Neuropathol · 1994 A neonate with deficiency of branching enzyme (glycogenosis type IV) presented symptoms of severe hypotonia pre- and postnatally, and dilated cardiomyopathy in early infancy. The classical clinical manifestation of liver cirrhosis was not present, although ... Full text Link to item Cite

A man with type III glycogenosis associated with cirrhosis and portal hypertension.

Journal Article Gastroenterology · December 1993 Type III glycogenosis, an inherited disorder of glycogen metabolism that results from reduced or absent activity of the enzyme amylo-1,6-glycosidase (debranching enzyme), has not been frequently associated with cirrhosis and portal hypertension in adults. ... Full text Link to item Cite

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Journal Article Am J Hum Genet · May 1993 Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a disorder of fatty acid catabolism, with autosomal recessive inheritance. The disease is characterized by episodic illness associated with potentially fatal hypoglycemia and has a relatively ... Link to item Cite

Type I glycogen storage disease: nine years of management with cornstarch.

Journal Article Eur J Pediatr · 1993 Long-term effects of cornstarch (CS) therapy on biochemical values and physical growth in children with type I glycogen storage disease (GSD I) were compared to those of children receiving continuous nocturnal nasogastric glucose feedings (CNG). Only patie ... Full text Link to item Cite

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.

Journal Article Hum Hered · 1993 Medium-chain acyl CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited defect of fatty acid beta-oxidation. Approximately 90% of the disease-causing alleles in diagnosed patients are due to a single base mutation, an A (adenine) to G (guani ... Full text Link to item Cite

Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.

Journal Article Am J Med Genet · September 1, 1992 We present a boy with a rare unbalanced translocation 46,XY,-15,+der(22),t(15;22)(q13;q11) pat. Previous reports of similar chromosome findings mention only the Prader-Willi phenotype. At birth, his manifestations included severe hypotonia and lethargy, (t ... Full text Link to item Cite

Assignment of the human glycogen debrancher gene to chromosome 1p21.

Journal Article Genomics · August 1992 Glycogen debranching enzyme is a monomeric protein containing two independent catalytic activities of glycantransferase and glucosidase that are both required for glycogen degradation. Its deficiency causes type III glycogen storage disease. A majority of ... Full text Link to item Cite

Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.

Journal Article Ann Intern Med · June 1, 1992 OBJECTIVE: To determine whether a specific subtype of glycogen storage disease type III is associated with myopathy and cardiomyopathy. DESIGN: Case series. SETTING: Three referral medical centers. PATIENTS: All patients with glycogen storage disease type ... Full text Link to item Cite

Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.

Journal Article J Biol Chem · May 5, 1992 cDNA comprising the entire length of the human muscle glycogen debranching enzyme was cloned and its nucleotide sequence determined. The debrancher mRNA includes a 4545-base pair coding region and a 2371-base pair 3'-nontranslated region. The calculated mo ... Link to item Cite

Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.

Journal Article Prenat Diagn · March 1992 Uncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8-12 weeks were assayed for alpha-glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonst ... Full text Link to item Cite

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

Journal Article Hum Mutat · 1992 Medium chain acyl-CoA dehydrogenase (MCAD) catalyzes the first reaction of the beta-oxidation cycle for 4-10-carbon fatty acids. MCAD deficiency is one of the most frequent inborn metabolic disorders in populations of northwestern European origin. In the c ... Full text Link to item Cite

Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Journal Article Am J Hum Genet · January 1992 A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families. By PCR amplification a ... Link to item Cite

Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.

Journal Article J Inherit Metab Dis · 1992 In glycogen storage disease type III (glycogen debranching enzyme (DE) deficiency), the activities of serum alanine aminotransferase, aspartate aminotransferase and lactate dehydrogenase may be strikingly elevated during childhood but are low during adult ... Full text Link to item Cite

Brain abscess in glycogen storage disease type Ib.

Journal Article Acta Paediatr Scand · November 1991 Neutropenia, neutrophil dysfunction, and recurrent infections are important manifestations of glycogen storage disease type Ib. We report here a child who has had adequate metabolic control, but developed brain abscess, an infection not previously describe ... Full text Link to item Cite

VATER and hydrocephalus: distinct syndrome?

Journal Article Am J Med Genet · January 1991 VACTERL association with hydrocephalus is rarely reported, and is thought to be an autosomal recessive uniformly lethal disorder distinct from the VATER association. We have observed 3 patients in a 12-month period with hydrocephalus due to aqueductal sten ... Full text Link to item Cite

Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.

Journal Article Pediatr Nephrol · January 1991 Type I glycogen storage disease (GSD-I) is due to the deficiency of glucose-6-phosphatase activity in the liver, kidney and intestine. Although kidney enlargement occurs in GSD-I, renal disease has not been considered a major problem until recently. In old ... Full text Link to item Cite

Hyperglycaemia associated with lactic acidaemia in a renal allograft recipient with type I glycogen storage disease.

Journal Article J Inherit Metab Dis · 1991 Renal disease is a frequent and serious complication of type I glycogen storage disease. A type I glycogen storage disease patient with focal segmental glomerulosclerosis and progressive renal insufficiency underwent a renal allograft transplantation. Desp ... Full text Link to item Cite

Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.

Journal Article Neuromuscul Disord · 1991 A 54-yr-old woman who presented with chest pain and elevated serum creatine kinase levels was found to have type III glycogen storage disease. Except for a history of hepatomegaly in childhood, she was healthy and lived a normal life. There was no hypoglyc ... Full text Link to item Cite

Definitive prenatal diagnosis for type III glycogen storage disease.

Journal Article Am J Hum Genet · October 1990 Prenatal diagnosis for type III glycogen storage disease was performed by using (1) immunoblot analysis with a polyclonal antibody prepared against purified porcine-muscle debranching enzyme and (2) a qualitative assay for debranching-enzyme activity. Cult ... Link to item Cite

Induction of cytochrome P(1)450 RNA and benzo[a]pyrene metabolism in primary human hepatocyte cultures with benzanthracene.

Journal Article Toxicol Appl Pharmacol · September 15, 1990 Exposure of cells to microsomal enzyme inducers can modify the potency of many carcinogens. We have examined the steady-state level of RNA from the P(1)450 gene and the metabolism of benzo[a]pyrene (BP) in primary cultures of human hepatocytes exposed for ... Full text Link to item Cite

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.

Journal Article J Pediatr · January 1990 To determine the tissue distribution of glycogen debranching enzyme, we used immunoblot analysis with a polyclonal antibody prepared against purified porcine muscle debranching enzyme. Debranching enzyme was identified in porcine brain, kidney, cardiac mus ... Full text Link to item Cite

Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.

Journal Article Ann Intern Med · November 15, 1989 Cystic fibrosis is the commonest autosomal recessive genetic disorder among northern Europeans and their descendants. Recently, investigators have mapped the gene for cystic fibrosis to chromosome 7. We report the results of DNA linkage analysis in a consa ... Full text Link to item Cite

Transfection of a human cytochrome P-450 gene into the human lymphoblastoid cell line, AHH-1, and use of the recombinant cell line in gene mutation assays.

Journal Article Carcinogenesis · February 1989 We have demonstrated that the human cytochrome P1-450 gene can be transfected into the AHH-1 human lymphoblastoid cell line using the pHEBo vector and hygromycin selection. The transfected gene was expressed when regulatory sequences derived from the herpe ... Full text Link to item Cite

Renal disease in type 1 glycogen storage disease.

Journal Article N Engl J Med · June 30, 1988 Full text Link to item Cite

Renal disease in type I glycogen storage disease.

Journal Article N Engl J Med · January 7, 1988 Although kidney enlargement occurs in Type I glycogen storage disease, renal disease has not been considered a major problem. Death from renal failure in three patients known to us prompted a study of renal function in this disorder. Of the 38 patients wit ... Full text Link to item Cite

D10S20, a previously unmapped RFLP (OS-3), is located on 10q near D10S4

Journal Article Genomics · 1988 The locus recognized by the probe OS-3 is assigned to chromosome 10 both by Southern blot analysis of a panel of somatic cell hybrid DNAs and by genetic linkage to markers already assigned to chromosome 10. In Caucasians this probe recognizes a three-allel ... Cite

Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.

Journal Article Am J Hum Genet · December 1987 Type III glycogen storage disease is caused by a deficiency of glycogen debranching-enzyme activity. Many patients with this disease have both liver and muscle involvement, whereas others have only liver involvement without clinical or laboratory evidence ... Link to item Cite

Vitamins E and K induce aryl hydrocarbon hydroxylase activity in human cell cultures.

Journal Article Biochem Biophys Res Commun · March 30, 1987 Two fat soluble vitamins, Vitamins E and K, when added into culture medium, were found to increase aryl hydrocarbon hydroxylase activity in human cultured cells. The extent of induction in a hepatoma-derived cell line (Hep G2) by these vitamins is of simil ... Full text Link to item Cite

Identification and quantification of a messenger ribonucleic acid induced by polynuclear aromatic hydrocarbons--using a cloned human cytochrome P-450 gene.

Journal Article Eur J Biochem · September 16, 1985 We have isolated four overlapping human genomic clones associated with the polynuclear aromatic hydrocarbon-induced form of cytochrome P-450. The form of P-450 most closely associated with polynuclear aromatic hydrocarbons induction has been defined as P1- ... Full text Link to item Cite

Liver-specific glucose-6-phosphatase is not present in human placenta.

Journal Article J Inherit Metab Dis · 1985 Type I glycogen storage disease (McKusick 23220), an inherited absence or deficiency of glucose-6-phosphatase (EC 3.1.3.9) activity in the liver, kidney and intestine, is associated with the accumulation of glycogen in those organs. Previous reports have s ... Full text Link to item Cite

Resistance of the male gonad to a high galactose diet.

Journal Article Pediatr Res · April 1984 Rats were fed a 50% galactose diet during pregnancy and nursing, and the testes were later examined and hormone levels determined in male offspring. Exposure to galactose for various periods during pregnancy, throughout the entire gestation, or postnatally ... Full text Link to item Cite

Cloning genes that encode inducible forms of P-450.

Journal Article Biochem Soc Trans · February 1984 Full text Link to item Cite

Structure of the mouse cytochrome P1-450 genomic gene.

Journal Article European Journal of Biochemistry · 1983 Clone 46 was previously shown to represent mouse cytochrome P1-450 cDNA by both translation arrest experiments and segregation of induced P1-450 mRNA with induced aryl hydrocarbon hydroxylase activity among individual 3-methylcholanthrene-treated offspring ... Cite

Screening of 16 common therapeutic drugs. Possible association with the Ah locus.

Journal Article Dev Pharmacol Ther · 1983 16 common therapeutic agents were screened for differences in sedation or lethality between C57BL/6N and DBA/2N inbred mouse strains that had been previously treated with beta-naphthoflavone. No differences were observed for meprobamate, valium, promethazi ... Full text Link to item Cite

Similarities between mouse and rat-liver microsomal cytochromes P-450 induced by 3-methylcholanthrene. Evidence from catalytic, immunologic, and recombinant DNA studies

Journal Article European Journal of Biochemistry · 1982 Anti-(P1-450) and anti-(P-448) are two antibodies developed against distinctly different forms of 3-methylcholanthrene-induced cytochrome P-450 in C57BL/6N mouse liver microsomes. The effects of these antibodies on Long-Evans and Sprague-Dawley rat liver m ... Full text Cite

Cytochrome P1-450 structural gene in mouse, rat, and rabbit: differences in DNA methylation and developmental expression of mRNA.

Journal Article DNA · 1982 Clone 46 previously was shown to represent an 1100-bp cDNA clone of the mouse cytochrome P1-450 structural gene. Clone 46 [32P]DNA was hybridized to DNA and mRNA from mouse, rat, and rabbit of different ages. In Hpa II digests of DNA, two hybridizable frag ... Full text Link to item Cite

Reduction in oocyte number following prenatal exposure to a diet high in galactose.

Journal Article Science · December 4, 1981 When pregnant rats were fed a 50 percent galactose diet there was a striking reduction in oocyte number in the offspring. The most prominent effects were noted after exposure to galactose during the premeiotic stages of oogenesis. Prenatal exposure to gala ... Full text Link to item Cite

Evidence for a striking increase in acetylcholinesterase activity in cultured human fibroblasts which are trisomic for chromosome two.

Journal Article Somatic Cell Genet · May 1978 Acetylcholinesterase (AchE) is reported to have a narrowly restricted distribution among human tissues. Three strains of human fibroblasts which are trisomic for chromosome 2 had an average level of AchE activity over 28 times higher than the average level ... Full text Link to item Cite