DNA Mutational Analysis

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  Subject Areas on Research

  • 1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas. 
  • A 2-pyridone-amide inhibitor targets the glucose metabolism pathway of Chlamydia trachomatis. 
  • A 90 kb DNA deletion associated with neurofibromatosis type 1. 
  • A Chlamydia trachomatis strain with a chemically generated amino acid substitution (P370L) in the cthtrA gene shows reduced elementary body production. 
  • A Novel Phosphoregulatory Switch Controls the Activity and Function of the Major Catalytic Subunit of Protein Kinase A in Aspergillus fumigatus. 
  • A Proof-of-Concept Case Study for Personalized Noninvasive Prenatal Diagnosis: Can We Put It to Work? 
  • A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease. 
  • A boy with fever and whorl keratopathy. 
  • A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 
  • A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. 
  • A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 
  • A formalin-fixed paraffin-embedded (FFPE)-based prognostic signature to predict metastasis in clinically low risk stage I/II microsatellite stable colorectal cancer. 
  • A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. 
  • A genetic variant in the APE1/Ref-1 gene promoter -141T/G may modulate risk of glioblastoma in a Chinese Han population. 
  • A genome-wide visual screen reveals a role for sphingolipids and ergosterol in cell surface delivery in yeast. 
  • A high frequency of activating extracellular domain ERBB2 (HER2) mutation in micropapillary urothelial carcinoma. 
  • A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 
  • A molecular marker for chloroquine-resistant falciparum malaria. 
  • A mutation of the beta 2-adrenergic receptor impairs agonist activation of adenylyl cyclase without affecting high affinity agonist binding. Distinct molecular determinants of the receptor are involved in physical coupling to and functional activation of Gs. 
  • A novel basal promoter element is required for expression of the rat tyrosine hydroxylase gene. 
  • A novel human disease with abnormal prion protein sensitive to protease. 
  • A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. 
  • A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. 
  • A pseudoknot-like structure required for efficient self-cleavage of hepatitis delta virus RNA. 
  • A serine/arginine-rich domain in the human U1 70k protein is necessary and sufficient for ASF/SF2 binding. 
  • A single tube, four-color flow cytometry assay for evaluation of ZAP-70 and CD38 expression in chronic lymphocytic leukemia. 
  • A small region of the beta-adrenergic receptor is selectively involved in its rapid regulation. 
  • A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 
  • A systematic approach to mapping recessive disease genes in individuals from outbred populations. 
  • A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy. 
  • ACE2, an activator of yeast metallothionein expression which is homologous to SWI5. 
  • ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 
  • ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 
  • Accuracy of BRCA1 and BRCA2 founder mutation analysis in formalin-fixed and paraffin-embedded (FFPE) tissue. 
  • Acute myeloid leukemia ontogeny is defined by distinct somatic mutations. 
  • Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. 
  • Adrenergic receptors: recent insights into their mechanism of activation and desensitization. 
  • Alteration of the tumor suppressor gene p53 in a high fraction of hormone refractory prostate cancer. 
  • Alterations of the P53 gene are associated with the progression of a human prostate carcinoma. 
  • Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. 
  • Altered patterns of agonist-stimulated cAMP accumulation in cells expressing mutant beta 2-adrenergic receptors lacking phosphorylation sites. 
  • An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome. 
  • An miR-502-binding site single-nucleotide polymorphism in the 3'-untranslated region of the SET8 gene is associated with early age of breast cancer onset. 
  • An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. 
  • Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. 
  • Analysis of microsatellite mutations in the mitochondrial DNA of Saccharomyces cerevisiae. 
  • Analysis of renal cell transformation following exposure to trichloroethene in vivo and its metabolite S-(dichlorovinyl)-L-cysteine in vitro. 
  • Analysis of somatic hypermutation in X-linked hyper-IgM syndrome shows specific deficiencies in mutational targeting. 
  • Apolipoprotein E epsilon4 allele and outcomes of traumatic spinal cord injury. 
  • Apolipoprotein E modifies neurological outcome by affecting cerebral edema but not hematoma size after intracerebral hemorrhage in humans. 
  • Are sequence family variants useful for identifying deletions in the human Y chromosome? 
  • Arithmetic difficulties in females with the fragile X premutation. 
  • Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. 
  • Aspirin resistance and a single gene. 
  • Association of genetic polymorphisms with risk of renal injury after coronary bypass graft surgery. 
  • AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes. 
  • BDNF Val66Met and spontaneous dyskinesias in non-clinical psychosis. 
  • BRAF V600E expression in Langerhans cell histiocytosis: clinical and immunohistochemical study on 25 pulmonary and 54 extrapulmonary cases. 
  • BRCA mutations and risk of prostate cancer in Ashkenazi Jews. 
  • Brain tumors in mice are susceptible to blockade of epidermal growth factor receptor (EGFR) with the oral, specific, EGFR-tyrosine kinase inhibitor ZD1839 (iressa). 
  • Brain-derived neurotrophic factor val66met polymorphism affects human memory-related hippocampal activity and predicts memory performance. 
  • CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. 
  • Carbonic anhydrase and CO2 sensing during Cryptococcus neoformans growth, differentiation, and virulence. 
  • Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma. 
  • Characterization of an acquired inhibitor to coagulation factor V. Antibody binding to the second C-type domain of factor V inhibits the binding of factor V to phosphatidylserine and neutralizes procoagulant activity. 
  • Characterization of key residues in the subdomain encoded by exons 8 and 9 of human inducible nitric oxide synthase: a critical role for Asp-280 in substrate binding and subunit interactions. 
  • Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. 
  • Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. 
  • Clinical and genetic characterization of manifesting carriers of DMD mutations. 
  • Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 
  • Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 
  • Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. 
  • Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. 
  • Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. 
  • Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. 
  • Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. 
  • Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. 
  • Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 
  • Comparative genomics search for losses of long-established genes on the human lineage. 
  • Complex relationship between Parkin mutations and Parkinson disease. 
  • Comprehensive genomic characterization of squamous cell lung cancers. 
  • Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 
  • Connexin-related (DFNB1) hearing loss: is routine computed tomography imaging necessary? 
  • Conserved functional organization of the human immunodeficiency virus type 1 and visna virus Rev proteins. 
  • Constitutive hedgehog signaling in chondrosarcoma up-regulates tumor cell proliferation. 
  • Conversion of diploidy to haploidy. 
  • Cooperation of Sp1 and p300 in the induction of the CDK inhibitor p21WAF1/CIP1 during NGF-mediated neuronal differentiation. 
  • Coping with genetic testing for breast cancer susceptibility. 
  • Creation of an active estrogen-responsive element by a single base change in the flanking sequence of a cellular oncogene: a possible mechanism for hormonal carcinogenesis? 
  • Cyclic AMP mediated GSTP1 gene activation in tumor cells involves the interaction of activated CREB-1 with the GSTP1 CRE: a novel mechanism of cellular GSTP1 gene regulation. 
  • Cystic fibrosis in the pancreas: recent advances provide new insights. 
  • Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis. 
  • Cytoplasmic and/or nuclear accumulation of the beta-catenin protein is a frequent event in human osteosarcoma. 
  • Cytoplasmic domain truncation enhances fusion activity by the exterior glycoprotein complex of human immunodeficiency virus type 2 in selected cell types. 
  • DNA methylation profiling in the Carolina Breast Cancer Study defines cancer subclasses differing in clinicopathologic characteristics and survival. 
  • DNA polymerase zeta is essential for hexavalent chromium-induced mutagenesis. 
  • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. 
  • Decreased E-cadherin expression correlates with higher stage of Wilms' tumors. 
  • Deletion of p16 and p15 genes in brain tumors. 
  • Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. 
  • Detection of APC mutations in fecal DNA from patients with colorectal tumors. 
  • Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy. 
  • Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy. 
  • Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors. 
  • Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 
  • Dideoxy fingerprinting assay for BRCA1 mutation analysis. 
  • Differential osteopontin expression in phenotypically distinct subclones of murine breast cancer cells mediates metastatic behavior. 
  • Differentiation of a catecholaminergic CNS cell line modifies tyrosine hydroxylase transcriptional regulation. 
  • Disruption of a ciliary B9 protein complex causes Meckel syndrome. 
  • Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features. 
  • Distinctive patterns of translational reinitiation in the lac repressor mRNA: bridging of long distances by out-of-frame translation and RNA secondary structure, effects of primary sequence. 
  • Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. 
  • Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. 
  • Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. 
  • Dystonia with and without deafness is caused by TIMM8A mutation. 
  • EGFR mutations and sensitivity to gefitinib. 
  • Effects of inherited thrombophilic mutations in an adolescent with antiphospholipid syndrome and systemic lupus erythematosus. 
  • Endocervical-like (Müllerian) mucinous borderline tumours of the ovary are frequently associated with the KRAS mutation. 
  • Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome. 
  • Epidermal Growth Factor Receptor Mutational Testing and Erlotinib Treatment Among Veterans Diagnosed With Lung Cancer in the United States Department of Veterans Affairs. 
  • Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes. 
  • Evaluation of established breast cancer risk factors as modifiers of BRCA1 or BRCA2: a multi-center case-only analysis. 
  • Eventual AIDS vaccine failure in a rhesus monkey by viral escape from cytotoxic T lymphocytes. 
  • Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. 
  • Evidence for coincident mutations in human lymphoblast clones selected for functional loss of a thymidine kinase gene. 
  • Evidence for involvement of GNB1L in autism. 
  • Evidence for regulation of the human ABL tyrosine kinase by a cellular inhibitor. 
  • Evidence of viral adaptation to HLA class I-restricted immune pressure in chronic hepatitis C virus infection. 
  • Examination of Msh6- and Msh3-deficient mice in class switching reveals overlapping and distinct roles of MutS homologues in antibody diversification. 
  • Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia. 
  • Exome Sequence Analysis of 14 Families With High Myopia. 
  • Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia. 
  • Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. 
  • Exome sequencing reveals recurrent REV3L mutations in cisplatin-resistant squamous cell carcinoma of head and neck. 
  • Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. 
  • Expanding CEP290 mutational spectrum in ciliopathies. 
  • Expression of osteocalcin and its transcriptional regulators core-binding factor alpha 1 and MSX2 in osteoid-forming tumours. 
  • Expression signatures of TP53 mutations in serous ovarian cancers. 
  • Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes. 
  • FGF12 is a candidate Brugada syndrome locus. 
  • FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia. 
  • Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. 
  • Fine mapping two distinct antigenic sites on simian virus 40 (SV40) T antigen reactive with SV40-specific cytotoxic T-cell clones by using SV40 deletion mutants. 
  • Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 
  • Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. 
  • Functional analysis of the transforming growth factor beta responsive elements in the WAF1/Cip1/p21 promoter. 
  • Functional dissection of the HIV-1 Rev trans-activator--derivation of a trans-dominant repressor of Rev function. 
  • Functional polymorphisms of JWA gene are associated with risk of bladder cancer. 
  • Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. 
  • Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma. 
  • Genes Involved in Neurodevelopment, Neuroplasticity, and Bipolar Disorder: CACNA1C, CHRNA1, and MAPK1. 
  • Genetic analysis of the beta-tubulin gene, TUBB, in non-small-cell lung cancer. 
  • Genetic analysis of the cofactor requirement for human immunodeficiency virus type 1 Tat function. 
  • Genetic and crystallographic studies of the 3',5'-exonucleolytic site of DNA polymerase I. 
  • Genetic changes in contralateral bronchioloalveolar carcinomas of the lung. 
  • Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. 
  • Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. 
  • Genetic heterogeneity of diffuse large B-cell lymphoma. 
  • Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 
  • Genetic mutations in African patients with atrial fibrillation: Rationale and design of the Study of Genetics of Atrial Fibrillation in an African Population (SIGNAL). 
  • Genetic signatures in the envelope glycoproteins of HIV-1 that associate with broadly neutralizing antibodies. 
  • Genetic susceptibility testing and prophylactic oophorectomy. 
  • Genetic variation at a single locus and age of onset for Alzheimer's disease. 
  • Genome-scale mutational signatures of aflatoxin in cells, mice, and human tumors. 
  • Genomic organization and polymorphism of human angiotensin II type 2 receptor: no evidence for its gene mutation in two families of human premature ovarian failure syndrome. 
  • Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. 
  • Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. 
  • Genotype-phenotype correlation in MYH9-related thrombocytopenia. 
  • Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. 
  • Germline genetic variants in men with prostate cancer and one or more additional cancers. 
  • Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. 
  • Glaucoma in Ghana, West Africa: clinical features and the role of mutations in Myocilin. 
  • Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. 
  • Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. 
  • Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. 
  • Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 
  • Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 
  • Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 
  • Hereditary prostate cancer as a feature of Lynch syndrome. 
  • Highly active zinc-finger nucleases by extended modular assembly. 
  • Human factor IXLincoln Park: a molecular characterization. 
  • Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. 
  • Hyper IgM syndrome associated with defective CD40-mediated B cell activation. 
  • Hyperadhesive mutant of type 1-fimbriated Escherichia coli associated with formation of FimH organelles (fimbriosomes). 
  • Hypoglossal neuropathy in hereditary neuropathy with liability to pressure palsy. 
  • Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. 
  • Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 
  • IDH1 and IDH2 mutations in gliomas. 
  • Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 
  • Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. 
  • Identification of a high-affinity RNA-binding site for the human immunodeficiency virus type 1 Rev protein. 
  • Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. 
  • Identification of a novel locus on 2q for autosomal dominant high-grade myopia. 
  • Identification of the ligand-binding domains of CD22, a member of the immunoglobulin superfamily that uniquely binds a sialic acid-dependent ligand. 
  • Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals. 
  • Immunohistochemical and mutational analysis of the p53 tumour suppressor gene and the bcl-2 oncogene in primary testicular germ cell tumours. 
  • Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples. 
  • Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer. 
  • In-depth characterization of the cisplatin mutational signature in human cell lines and in esophageal and liver tumors. 
  • Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. 
  • Inhibition of an inflammatory response is mediated by a 38-kDa protein of cowpox virus. 
  • Integrated genomic characterization of endometrial carcinoma. 
  • Integrative molecular profiling of routine clinical prostate cancer specimens. 
  • Interaction between serotonin transporter polymorphism (5-HTTLPR) and stressful life events in adolescents' trajectories of anxious/depressed symptoms. 
  • Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. 
  • Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 
  • Invasion Patterns of Metastatic Extrauterine High-grade Serous Carcinoma With BRCA Germline Mutation and Correlation With Clinical Outcomes. 
  • Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. 
  • Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis. 
  • Isolated sulfite oxidase deficiency: review of two cases in one family. 
  • Janus kinase 3-activating mutations identified in natural killer/T-cell lymphoma. 
  • Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene. 
  • K-ras mutations in Müllerian inclusion cysts associated with serous borderline tumors of the ovary. 
  • Ki-67, p53, and p16 expression, and G691S RET polymorphism in desmoplastic melanoma (DM): A clinicopathologic analysis of predictors of outcome. 
  • Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. 
  • Late-onset hereditary axonal neuropathies. 
  • Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. 
  • Live Imaging of Host-Parasite Interactions in a Zebrafish Infection Model Reveals Cryptococcal Determinants of Virulence and Central Nervous System Invasion. 
  • Longitudinal monitoring of EGFR mutations in plasma predicts outcomes of NSCLC patients treated with EGFR TKIs: Korean Lung Cancer Consortium (KLCC-12-02). 
  • Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. 
  • Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. 
  • MEN1 gene mutation analysis of high-grade neuroendocrine lung carcinoma. 
  • MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 
  • MSH6 inactivation and emergent temozolomide resistance in human glioblastomas. 
  • MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations. 
  • Manganese superoxide dismutase (MnSOD: Ala-9Val) gene polymorphism and mood disorders: a preliminary study. 
  • Marrow cell transplantation for infantile hypophosphatasia. 
  • Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. 
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. 
  • Mesotheliomas induced in rats by the fibrous mineral erionite are independent from p53 alterations. 
  • Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 
  • Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. 
  • Mitochondrial DNA deletions/rearrangements in parkinson disease and related neurodegenerative disorders. 
  • Molecular Testing of Nodules with a Suspicious or Malignant Cytologic Diagnosis in the Setting of Non-Invasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features (NIFTP). 
  • Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 
  • Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. 
  • Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency. 
  • Molecular basis of adenosine deaminase deficiency. 
  • Molecular characterization of adenocarcinoma of the cervix. 
  • Molecular genetic and family studies in affective disorders: state of the art. 
  • Molecular genetic parameters in pathogenesis and prognosis of testicular germ cell tumors. 
  • Molecular motors--a paradigm for mutant analysis. 
  • Molecular organization and alternative splicing in zipper, the gene that encodes the Drosophila non-muscle myosin II heavy chain. 
  • Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 
  • Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas. 
  • Morphologic patterns associated with BRCA1 and BRCA2 genotype in ovarian carcinoma. 
  • Mosaicism for an FMR1 gene deletion in a fragile X female. 
  • Multicolor in vitro translation. 
  • Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. 
  • Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 
  • Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization. 
  • Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 
  • Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 
  • Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 
  • Mutation analysis of 24 known cancer genes in the NCI-60 cell line set. 
  • Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 
  • Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. 
  • Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line. 
  • Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 
  • Mutation detection with MutH, MutL, and MutS mismatch repair proteins. 
  • Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. 
  • Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 
  • Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 
  • Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. 
  • Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. 
  • Mutational Analysis of Measles Virus Suggests Constraints on Antigenic Variation of the Glycoproteins. 
  • Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. 
  • Mutational analysis of a type II topoisomerase cleavage site: distinct requirements for enzyme and inhibitors. 
  • Mutational analysis of endothelin receptor b1 (rose) during neural crest and pigment pattern development in the zebrafish Danio rerio. 
  • Mutational analysis of the Drosophila DNA repair and recombination gene mei-9. 
  • Mutational analysis of the PTEN gene in human uterine sarcomas. 
  • Mutational analysis of the coding regions of the genes encoding protein kinase B-alpha and -beta, phosphoinositide-dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: lessons from a search for genetic variability of the insulin-stimulated glycogen synthesis pathway of skeletal muscle in NIDDM patients. 
  • Mutational analysis of the conserved basic domain of human immunodeficiency virus tat protein. 
  • Mutational analysis of the estrogen-receptor gene in endometrial carcinoma. 
  • Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. 
  • Mutational analysis of the p21/WAF1/CIP1/SDI1 coding region in human tumor cell lines. 
  • Mutational analysis of the tyrosine phosphatome in colorectal cancers. 
  • Mutational definition of the human immunodeficiency virus type 1 Rev activation domain. 
  • Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 
  • Mutational loss of PTEN induces resistance to NOTCH1 inhibition in T-cell leukemia. 
  • Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. 
  • Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 
  • Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). 
  • Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. 
  • Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 
  • Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 
  • Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. 
  • Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. 
  • Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. 
  • Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. 
  • Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. 
  • Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. 
  • Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. 
  • Mutations of the BRAF gene in human cancer. 
  • Mutations of the E-cadherin gene in human gynecologic cancers. 
  • Myocilin mutations in black South Africans with POAG. 
  • Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). 
  • NCCN Task Force report: update on the management of patients with gastrointestinal stromal tumors. 
  • Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. 
  • Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). 
  • Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis. 
  • Newborn screening and the era of medical genomics. 
  • Newborn screening for Krabbe disease: the New York State model. 
  • Newborn, carrier, and early childhood screening recommendations for fragile X. 
  • Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. 
  • Next generation sequencing and tumor mutation profiling: are we ready for routine use in the oncology clinic? 
  • Nonsynonymous somatic mitochondrial mutations occur in the majority of cutaneous melanomas. 
  • Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 
  • Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. 
  • Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. 
  • Occupational exposure to pesticides increases the risk of incident AD: the Cache County study. 
  • Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 
  • Oligomerization and trafficking of the human dopamine transporter. Mutational analysis identifies critical domains important for the functional expression of the transporter. 
  • Oncogenic activation of c-ABL by mutation within its last exon. 
  • Oncogenic mutations in melanomas and benign melanocytic nevi of the female genital tract. 
  • Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma. 
  • Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. 
  • Overlapping elements in the guanylate-binding protein gene promoter mediate transcriptional induction by alpha and gamma interferons. 
  • PCR-Based Analysis of Mitochondrial DNA Copy Number, Mitochondrial DNA Damage, and Nuclear DNA Damage. 
  • PIK3CA mutations enable targeting of a breast tumor dependency through mTOR-mediated MCL-1 translation. 
  • PTEN gene mutations are seen in high-grade but not in low-grade gliomas. 
  • Pancreatic ductal adenocarcinoma with autoimmune pancreatitis-like histologic and immunohistochemical features. 
  • Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma. 
  • Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. 
  • Patched-one or smoothened gene mutations are infrequent in chondrosarcoma. 
  • Pathologic and molecular features correlate with long-term outcome after adjuvant therapy of resected primary GI stromal tumor: the ACOSOG Z9001 trial. 
  • Patterns of somatic mutation in human cancer genomes. 
  • Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 
  • Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore. 
  • Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer. 
  • Polymorphisms in the glucocorticoid receptor co-chaperone FKBP5 predict persistent musculoskeletal pain after traumatic stress exposure. 
  • Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing? 
  • Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. 
  • Prevalence and spectrum of p53 mutations associated with smoking in breast cancer. 
  • Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. 
  • Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. 
  • Prevalence of the HOXB13 G84E prostate cancer risk allele in men treated with radical prostatectomy. 
  • Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 
  • Prognostic significance of p53 mutation and p53 overexpression in advanced epithelial ovarian cancer: a Gynecologic Oncology Group Study. 
  • Proliferative nodules arising within congenital melanocytic nevi: a histologic, immunohistochemical, and molecular analyses of 43 cases. 
  • Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. 
  • Proteomic profiling of patient-derived glioblastoma xenografts identifies a subset with activated EGFR: implications for drug development. 
  • Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. 
  • Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. 
  • Quantitative PCR-based measurement of nuclear and mitochondrial DNA damage and repair in mammalian cells. 
  • REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. 
  • RNA Structural Modules Control the Rate and Pathway of RNA Folding and Assembly. 
  • RNASEL mutations in hereditary prostate cancer. 
  • RUNX1 mutations are associated with poor outcome in younger and older patients with cytogenetically normal acute myeloid leukemia and with distinct gene and MicroRNA expression signatures. 
  • Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish. 
  • Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. 
  • Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 
  • Recombinants within the tyrosine kinase region of v-abl and v-src identify a v-abl segment that confers lymphoid specificity. 
  • Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation. 
  • Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. 
  • Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. 
  • Regulated expression of p18, a major phosphoprotein of leukemic cells. 
  • Regulation of intrasteric inhibition of the multifunctional calcium/calmodulin-dependent protein kinase. 
  • Regulatory elements governing transcription in specialized myofiber subtypes. 
  • Replication of 13 obesity loci among Singaporean Chinese, Malay and Asian-Indian populations. 
  • Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene. 
  • Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. 
  • Retrospective family study of childhood medulloblastoma. 
  • Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases. 
  • Risk-reducing salpingo-oophorectomy in patients with germline mutations in BRCA1 or BRCA2. 
  • Role for topoisomerase 1 in transcription-associated mutagenesis in yeast. 
  • SMAD4 mutations found in unselected HHT patients. 
  • SMRT Sequencing for Parallel Analysis of Multiple Targets and Accurate SNP Phasing. 
  • Screening of CFTR mutations in an isolated population: identification of carriers and patients. 
  • Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 
  • Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. 
  • Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. 
  • Sequencing and analysis of genomic fragments from the NF1 locus. 
  • Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management. 
  • Somatic mutation of TRbeta can cause a defect in negative regulation of TSH in a TSH-secreting pituitary tumor. 
  • Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers. 
  • Spatial pattern of nucleotide polymorphism indicates molecular adaptation in the bryophyte Sphagnum fimbriatum. 
  • Spectrum of mutations in the Batten disease gene, CLN3. 
  • Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. 
  • Strategies for dissecting genetic-environmental interactions in neurodegenerative disorders. 
  • Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. 
  • T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. 
  • TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma. 
  • TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: a Cancer and Leukemia Group B study. 
  • TRPV1 temperature activation is specifically sensitive to strong decreases in amino acid hydrophobicity. 
  • Targets of immunophilin-immunosuppressant complexes are distinct highly conserved regions of calcineurin A. 
  • Temperature-sensitive mutants of the EcoRI endonuclease. 
  • Template for Reporting Results of Biomarker Testing of Specimens From Patients With Tumors of the Central Nervous System. 
  • Testing for the recurrent HOXB13 G84E germline mutation in men with clinical indications for prostate biopsy. 
  • The Bel-1 protein of human foamy virus activates human immunodeficiency virus type 1 gene expression via a novel DNA target site. 
  • The C-terminal repeat domain of RNA polymerase II largest subunit is essential in vivo but is not required for accurate transcription initiation in vitro. 
  • The Haemophilus influenzae hFbpABC Fe3+ transporter: analysis of the membrane permease and development of a gallium-based screen for mutants. 
  • The Influenza B Virus Hemagglutinin Head Domain Is Less Tolerant to Transposon Mutagenesis than That of the Influenza A Virus. 
  • The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. 
  • The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds. 
  • The carboxy terminal WD domain of the pre-mRNA splicing factor Prp17p is critical for function. 
  • The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. 
  • The crystal structure and mutational analysis of a novel RNA-binding domain found in the human Tap nuclear mRNA export factor. 
  • The cyclic AMP response element directs tyrosine hydroxylase expression in catecholaminergic central and peripheral nervous system cell lines from transgenic mice. 
  • The erythropoietin receptor transmembrane region is necessary for activation by the Friend spleen focus-forming virus gp55 glycoprotein. 
  • The evolutionary forest algorithm. 
  • The genetic architecture of type 2 diabetes. 
  • The genetics of dementia in late life. 
  • The genome-wide mutational landscape of pituitary adenomas. 
  • The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks. 
  • The mismatch repair protein Msh6 influences the in vivo AID targeting to the Ig locus. 
  • The molecular basis of class II MHC allelic control of T cell responses. 
  • The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes. 
  • The promoter of human T-cell leukemia virus type-I is repressed by the immediate-early gene region of human cytomegalovirus in primary blood lymphocytes. 
  • The whole-genome landscape of medulloblastoma subtypes. 
  • Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. 
  • Transcription factors are required for the meiotic recombination hotspot at the HIS4 locus in Saccharomyces cerevisiae. 
  • Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation. 
  • Triallelic inheritance: a bridge between Mendelian and multifactorial traits. 
  • Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. 
  • Two proteins encoded at the chlA locus constitute the converting factor of Escherichia coli chlA1. 
  • Type II collagen gene variants and inherited osteonecrosis of the femoral head. 
  • Unselected mutations in the human immunodeficiency virus type 1 genome are mostly nonsynonymous and often deleterious. 
  • Using PEBBLE for the evolutionary analysis of serially sampled molecular sequences. 
  • Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma. 
  • Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. 
  • Well-Differentiated Neuroendocrine Tumors with a Morphologically Apparent High-Grade Component: A Pathway Distinct from Poorly Differentiated Neuroendocrine Carcinomas. 
  • Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. 
  • Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways. 
  • Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion. 
  • Whole-genome reconstruction and mutational signatures in gastric cancer. 
  • X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. 
  • X-linked high myopia associated with cone dysfunction. 
  • Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism. 
  • hnRNP H and hnRNP F complex with Fox2 to silence fibroblast growth factor receptor 2 exon IIIc. 
  • myotilin Mutation found in second pedigree with LGMD1A. 
  • p14ARF genetic polymorphisms and susceptibility to second primary malignancy in patients with index squamous cell carcinoma of the head and neck. 
  • p27 and cyclin D1 abnormalities in uterine papillary serous carcinoma. 
  • ras oncogene mutations in diethylnitrosamine-induced hepatic tumors in medaka (Oryzias latipes), a teleost fish. 
• 

  Keywords of People

  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Professor of Pediatrics, in the School of Medicine, Immunology
  • Ciofani, Maria, Assistant Professor of Immunology, Immunology
  • Davis, Erica Ellen, Associate Professor of Pediatrics, Cell Biology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Luftig, Micah Alan, Associate Professor of Molecular Genetics and Microbiology, Molecular Genetics and Microbiology
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Milano, Carmelo Alessio, Professor of Surgery, Surgery, Cardiovascular and Thoracic Surgery
  • Moorman, Patricia Gripka, Professor in Community and Family Medicine, Duke Cancer Institute
  • Sampson, John Howard, Robert H., M.D. and Gloria Wilkins Professor of Neurosurgery, in the School of Medicine, Immunology
  • Swaminathan, Madhav, Professor of Anesthesiology, Anesthesiology, Cardiothoracic
  • Yan, Hai, Henry S. Friedman Professor of Neuro-Oncology in the School of Medicine, Pathology