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Michael Arthur Hauser

Professor in Medicine
Medicine, Medical Genetics
Duke Box 104775, Durham, NC 27710
2016 Genome Science Research Bldg I, Durham, NC 27710

Selected Publications


Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells.

Journal Article Hum Mol Genet · October 17, 2023 Pseudoexfoliation glaucoma (PEXG) is characterized by dysregulated extracellular matrix (ECM) homeostasis that disrupts conventional outflow function and increases intraocular pressure (IOP). Prolonged IOP elevation results in optic nerve head damage and v ... Full text Open Access Link to item Cite

GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.

Journal Article Am J Psychiatry · October 1, 2023 OBJECTIVE: Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present stud ... Full text Open Access Link to item Cite

Polygenic risk scores for CARDINAL study.

Journal Article Nature genetics · May 2022 Full text Cite

Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information.

Journal Article Biol Psychiatry · April 1, 2022 BACKGROUND: Posttraumatic stress disorder (PTSD) is heritable and a potential consequence of exposure to traumatic stress. Evidence suggests that a quantitative approach to PTSD phenotype measurement and incorporation of lifetime trauma exposure (LTE) info ... Full text Link to item Cite

A genome-wide association study of suicide attempts in the million veterans program identifies evidence of pan-ancestry and ancestry-specific risk loci.

Journal Article Mol Psychiatry · April 2022 To identify pan-ancestry and ancestry-specific loci associated with attempting suicide among veterans, we conducted a genome-wide association study (GWAS) of suicide attempts within a large, multi-ancestry cohort of U.S. veterans enrolled in the Million Ve ... Full text Link to item Cite

Identification of Estrogen Signaling in a Prioritization Study of Intraocular Pressure-Associated Genes.

Journal Article Int J Mol Sci · September 24, 2021 Elevated intraocular pressure (IOP) is the only modifiable risk factor for primary open-angle glaucoma (POAG). Herein we sought to prioritize a set of previously identified IOP-associated genes using novel and previously published datasets. We identified s ... Full text Link to item Cite

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Journal Article Nat Commun · February 24, 2021 Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 ... Full text Link to item Cite

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.

Journal Article JAMA · February 23, 2021 IMPORTANCE: Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma ... Full text Link to item Cite

Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1.

Journal Article Hum Mol Genet · July 29, 2020 Individuals with pseudoexfoliation (PEX) syndrome exhibit various connective tissue pathologies associated with dysregulated extracellular matrix homeostasis. PEX glaucoma is a common, aggressive form of open-angle glaucoma resulting from the deposition of ... Full text Link to item Cite

The genetic architecture of the human cerebral cortex.

Journal Article Science · March 20, 2020 The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide associati ... Full text Open Access Link to item Cite

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Journal Article JAMA · November 5, 2019 IMPORTANCE: Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudi ... Full text Link to item Cite

Update on the genetics of primary open-angle glaucoma.

Journal Article Exp Eye Res · November 2019 Affecting nearly 80 million individuals, glaucoma is the number one cause of irreversible blindness in the world. This ocular disease describes a set of optic neuropathies of which primary open angle glaucoma (POAG) is the most common. POAG is associated w ... Full text Link to item Cite

International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci.

Journal Article Nat Commun · October 8, 2019 The risk of posttraumatic stress disorder (PTSD) following trauma is heritable, but robust common variants have yet to be identified. In a multi-ethnic cohort including over 30,000 PTSD cases and 170,000 controls we conduct a genome-wide association study ... Full text Open Access Link to item Cite

Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes.

Journal Article Am J Ophthalmol · October 2019 PURPOSE: A genetic correlation is the proportion of phenotypic variance between traits that is shared on a genetic basis. Here we explore genetic correlations between diabetes- and glaucoma-related traits. DESIGN: Cross-sectional study. METHODS: We assembl ... Full text Link to item Cite

Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.

Journal Article JAMA Ophthalmol · October 1, 2019 IMPORTANCE: Genetic variants associated with primary open-angle glaucoma (POAG) are known to influence disease risk. However, the clinical effect of associated variants individually or in aggregate is not known. Genetic risk scores (GRS) examine the cumula ... Full text Link to item Cite

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

Journal Article Commun Biol · 2019 A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influe ... Full text Link to item Cite

A genome-wide association study of suicide attempts and suicidal ideation in U.S. military veterans.

Journal Article Psychiatry Res · November 2018 Death by suicide and suicidal behavior are major concerns among U.S. military veterans; however, no genome-wide association studies (GWAS) studies of suicidal behavior have been conducted among U.S. military veterans to date, despite the elevated rate of s ... Full text Link to item Cite

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

Conference Hum Genet · October 2018 Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations compared to Europeans. So far, worldwide effort ... Full text Link to item Cite

A Common Glaucoma-risk Variant of SIX6 Alters Retinal Nerve Fiber Layer and Optic Disc Measures in a European Population: The EPIC-Norfolk Eye Study.

Journal Article J Glaucoma · September 2018 PURPOSE: A common missense variant in the SIX6 gene (rs33912345) is strongly associated with primary open-angle glaucoma (POAG). We aimed to examine the association of rs33912345 with optic disc and retinal nerve fiber layer (RNFL) measures in a European p ... Full text Link to item Cite

Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells.

Journal Article Hum Mol Genet · October 17, 2023 Pseudoexfoliation glaucoma (PEXG) is characterized by dysregulated extracellular matrix (ECM) homeostasis that disrupts conventional outflow function and increases intraocular pressure (IOP). Prolonged IOP elevation results in optic nerve head damage and v ... Full text Open Access Link to item Cite

GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.

Journal Article Am J Psychiatry · October 1, 2023 OBJECTIVE: Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present stud ... Full text Open Access Link to item Cite

Polygenic risk scores for CARDINAL study.

Journal Article Nature genetics · May 2022 Full text Cite

Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information.

Journal Article Biol Psychiatry · April 1, 2022 BACKGROUND: Posttraumatic stress disorder (PTSD) is heritable and a potential consequence of exposure to traumatic stress. Evidence suggests that a quantitative approach to PTSD phenotype measurement and incorporation of lifetime trauma exposure (LTE) info ... Full text Link to item Cite

A genome-wide association study of suicide attempts in the million veterans program identifies evidence of pan-ancestry and ancestry-specific risk loci.

Journal Article Mol Psychiatry · April 2022 To identify pan-ancestry and ancestry-specific loci associated with attempting suicide among veterans, we conducted a genome-wide association study (GWAS) of suicide attempts within a large, multi-ancestry cohort of U.S. veterans enrolled in the Million Ve ... Full text Link to item Cite

Identification of Estrogen Signaling in a Prioritization Study of Intraocular Pressure-Associated Genes.

Journal Article Int J Mol Sci · September 24, 2021 Elevated intraocular pressure (IOP) is the only modifiable risk factor for primary open-angle glaucoma (POAG). Herein we sought to prioritize a set of previously identified IOP-associated genes using novel and previously published datasets. We identified s ... Full text Link to item Cite

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Journal Article Nat Commun · February 24, 2021 Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 ... Full text Link to item Cite

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.

Journal Article JAMA · February 23, 2021 IMPORTANCE: Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma ... Full text Link to item Cite

Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1.

Journal Article Hum Mol Genet · July 29, 2020 Individuals with pseudoexfoliation (PEX) syndrome exhibit various connective tissue pathologies associated with dysregulated extracellular matrix homeostasis. PEX glaucoma is a common, aggressive form of open-angle glaucoma resulting from the deposition of ... Full text Link to item Cite

The genetic architecture of the human cerebral cortex.

Journal Article Science · March 20, 2020 The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide associati ... Full text Open Access Link to item Cite

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Journal Article JAMA · November 5, 2019 IMPORTANCE: Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudi ... Full text Link to item Cite

Update on the genetics of primary open-angle glaucoma.

Journal Article Exp Eye Res · November 2019 Affecting nearly 80 million individuals, glaucoma is the number one cause of irreversible blindness in the world. This ocular disease describes a set of optic neuropathies of which primary open angle glaucoma (POAG) is the most common. POAG is associated w ... Full text Link to item Cite

International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci.

Journal Article Nat Commun · October 8, 2019 The risk of posttraumatic stress disorder (PTSD) following trauma is heritable, but robust common variants have yet to be identified. In a multi-ethnic cohort including over 30,000 PTSD cases and 170,000 controls we conduct a genome-wide association study ... Full text Open Access Link to item Cite

Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes.

Journal Article Am J Ophthalmol · October 2019 PURPOSE: A genetic correlation is the proportion of phenotypic variance between traits that is shared on a genetic basis. Here we explore genetic correlations between diabetes- and glaucoma-related traits. DESIGN: Cross-sectional study. METHODS: We assembl ... Full text Link to item Cite

Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.

Journal Article JAMA Ophthalmol · October 1, 2019 IMPORTANCE: Genetic variants associated with primary open-angle glaucoma (POAG) are known to influence disease risk. However, the clinical effect of associated variants individually or in aggregate is not known. Genetic risk scores (GRS) examine the cumula ... Full text Link to item Cite

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

Journal Article Commun Biol · 2019 A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influe ... Full text Link to item Cite

A genome-wide association study of suicide attempts and suicidal ideation in U.S. military veterans.

Journal Article Psychiatry Res · November 2018 Death by suicide and suicidal behavior are major concerns among U.S. military veterans; however, no genome-wide association studies (GWAS) studies of suicidal behavior have been conducted among U.S. military veterans to date, despite the elevated rate of s ... Full text Link to item Cite

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

Conference Hum Genet · October 2018 Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations compared to Europeans. So far, worldwide effort ... Full text Link to item Cite

A Common Glaucoma-risk Variant of SIX6 Alters Retinal Nerve Fiber Layer and Optic Disc Measures in a European Population: The EPIC-Norfolk Eye Study.

Journal Article J Glaucoma · September 2018 PURPOSE: A common missense variant in the SIX6 gene (rs33912345) is strongly associated with primary open-angle glaucoma (POAG). We aimed to examine the association of rs33912345 with optic disc and retinal nerve fiber layer (RNFL) measures in a European p ... Full text Link to item Cite

Traumatic stress and accelerated DNA methylation age: A meta-analysis.

Journal Article Psychoneuroendocrinology · June 2018 BACKGROUND: Recent studies examining the association between posttraumatic stress disorder (PTSD) and accelerated aging, as defined by DNA methylation-based estimates of cellular age that exceed chronological age, have yielded mixed results. METHODS: We co ... Full text Link to item Cite

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected Corneas.

Journal Article Invest Ophthalmol Vis Sci · June 1, 2018 PURPOSE: Keratoconus (KC) is the most common corneal ectasia. We aimed to determine the differential expression of coding and long noncoding RNAs (lncRNAs) in human corneas affected with KC. METHODS: From the corneas of 10 KC patients and 8 non-KC healthy ... Full text Open Access Link to item Cite

Genomic Approaches to Posttraumatic Stress Disorder: The Psychiatric Genomic Consortium Initiative.

Journal Article Biol Psychiatry · May 15, 2018 Posttraumatic stress disorder (PTSD) after exposure to a traumatic event is a highly prevalent psychiatric disorder. Heritability estimates from twin studies as well as from recent molecular data (single nucleotide polymorphism-based heritability) indicate ... Full text Link to item Cite

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Journal Article Nat Commun · May 14, 2018 Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for kn ... Full text Link to item Cite

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.

Journal Article Hum Mol Genet · April 15, 2018 Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide for which 15 disease-associated loci had been discovered. Among them, only 5 loci have been associated with POAG in Asians. We carried out a genome-wide association ... Full text Link to item Cite

Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability.

Journal Article Mol Psychiatry · March 2018 The Psychiatric Genomics Consortium-Posttraumatic Stress Disorder group (PGC-PTSD) combined genome-wide case-control molecular genetic data across 11 multiethnic studies to quantify PTSD heritability, to examine potential shared genetic risk with schizophr ... Full text Open Access Link to item Cite

lncRNAs, DNA Methylation, and the Pathobiology of Exfoliation Glaucoma.

Journal Article J Glaucoma · March 2018 Exfoliation glaucoma (XFG) is a clinically aggressive and genetically distinct form of glaucoma that results in neuronal death and irreversible blindness. Gene variants associate with many neurodegenerative diseases including XFG, Parkinson's disease (PD) ... Full text Link to item Cite

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.

Journal Article Sci Rep · February 15, 2018 Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-analysed the results with GWAS data for intraocula ... Full text Link to item Cite

Transcriptome analysis of adult and fetal trabecular meshwork, cornea, and ciliary body tissues by RNA sequencing.

Journal Article Exp Eye Res · February 2018 PURPOSE: To characterize the transcriptional landscape of human adult and fetal trabecular meshwork (TM), cornea, and ciliary body (CB) tissues, and to evaluate the expression level of candidate genes selected from genetic association studies of primary-op ... Full text Link to item Cite

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets.

Journal Article Invest Ophthalmol Vis Sci · February 1, 2018 PURPOSE: Sex hormones may be associated with primary open-angle glaucoma (POAG), although the mechanisms are unclear. We previously observed that gene variants involved with estrogen metabolism were collectively associated with POAG in women but not men; h ... Full text Link to item Cite

Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma.

Journal Article PLoS Genet · January 2018 Central corneal thickness (CCT) is one of the most heritable ocular traits and it is also a phenotypic risk factor for primary open angle glaucoma (POAG). The present study uses the BXD Recombinant Inbred (RI) strains to identify novel quantitative trait l ... Full text Link to item Cite

Genome-wide association study of subcortical brain volume in PTSD cases and trauma-exposed controls.

Journal Article Transl Psychiatry · November 30, 2017 Depending on the traumatic event, a significant fraction of trauma survivors subsequently develop PTSD. The additional variability in PTSD risk is expected to arise from genetic susceptibility. Unfortunately, several genome-wide association studies (GWAS) ... Full text Link to item Cite

A putative causal relationship between genetically determined female body shape and posttraumatic stress disorder.

Journal Article Genome Med · November 27, 2017 BACKGROUND: The nature and underlying mechanisms of the observed increased vulnerability to posttraumatic stress disorder (PTSD) in women are unclear. METHODS: We investigated the genetic overlap of PTSD with anthropometric traits and reproductive behavior ... Full text Link to item Cite

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility.

Journal Article Nat Commun · November 24, 2017 Glaucoma is a multi-factorial blinding disease in which genetic factors play an important role. Elevated intraocular pressure is a highly heritable risk factor for primary open angle glaucoma and currently the only target for glaucoma therapy. Our study he ... Full text Link to item Cite

Modeling Glaucoma: Retinal Ganglion Cells Generated from Induced Pluripotent Stem Cells of Patients with SIX6 Risk Allele Show Developmental Abnormalities.

Journal Article Stem Cells · November 2017 Glaucoma represents a group of multifactorial diseases with a unifying pathology of progressive retinal ganglion cell (RGC) degeneration, causing irreversible vision loss. To test the hypothesis that RGCs are intrinsically vulnerable in glaucoma, we have d ... Full text Link to item Cite

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis.

Journal Article Eur J Hum Genet · November 2017 Primary open-angle glaucoma (POAG) is the most common chronic optic neuropathy worldwide. Epidemiological studies show a robust positive relation between intraocular pressure (IOP) and POAG and modest positive association between IOP and blood pressure (BP ... Full text Link to item Cite

Epigenome-wide association of PTSD from heterogeneous cohorts with a common multi-site analysis pipeline.

Journal Article Am J Med Genet B Neuropsychiatr Genet · September 2017 Compelling evidence suggests that epigenetic mechanisms such as DNA methylation play a role in stress regulation and in the etiologic basis of stress related disorders such as Post traumatic Stress Disorder (PTSD). Here we describe the purpose and methods ... Full text Link to item Cite

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Journal Article Nat Genet · July 2017 Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of X ... Full text Link to item Cite

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.

Journal Article Genome Med · March 27, 2017 BACKGROUND: Age-related macular degeneration (AMD) is a common condition of vision loss with disease development strongly influenced by environmental and genetic factors. Recently, 34 loci were associated with AMD at genome-wide significance. So far, littl ... Full text Link to item Cite

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample.

Journal Article Menopause · February 2017 OBJECTIVE: Several attributes of female reproductive history, including age at natural menopause (ANM), have been related to primary open-angle glaucoma (POAG). We assembled 18 previously reported common genetic variants that predict ANM to determine their ... Full text Link to item Cite

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.

Journal Article Genetics · February 2017 Age-related macular degeneration (AMD) is the leading cause of blindness in ageing societies, triggered by both environmental and genetic factors. The strongest genetic signal for AMD with odds ratios of up to 2.8 per adverse allele was found previously ov ... Full text Link to item Cite

Further evidence for a role of the ADRB2 gene in risk for posttraumatic stress disorder.

Journal Article J Psychiatr Res · January 2017 The aim of the present study was to attempt to replicate the recently reported finding associating rs2400707 of the Adrenoceptor Beta 2, Surface (ADRB2) gene and childhood trauma on PTSD symptoms. Participants included a predominantly veteran cohort of non ... Full text Link to item Cite

Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology.

Journal Article Exp Eye Res · January 2017 Exfoliation syndrome (XFS) is a common age-related disorder that leads to deposition of extracellular fibrillar material throughout the body. The most recognized disease manifestation is exfoliation glaucoma (XFG), which is a common cause of blindness worl ... Full text Link to item Cite

Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium.

Journal Article PLoS Genet · September 2016 Primary open angle glaucoma (POAG) is a complex disease and is one of the major leading causes of blindness worldwide. Genome-wide association studies have successfully identified several common variants associated with glaucoma; however, most of these var ... Full text Link to item Cite

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses.

Journal Article Invest Ophthalmol Vis Sci · September 1, 2016 PURPOSE: Recent studies indicate that mitochondrial proteins may contribute to the pathogenesis of primary open-angle glaucoma (POAG). In this study, we examined the association between POAG and common variations in gene-encoding mitochondrial proteins. ME ... Full text Link to item Cite

miRNA-Seq in four different normal human ocular tissues

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Differential gene expression and pathway enrichment in the human cornea and retina

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Genome-wide association study comparing patients with exfoliation syndrome and exfoliation glaucoma.

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

DNA methylation in Human SC Cells with Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Genome-Wide Pathway Approach to Dissecting Primary Open-Angle Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

A lncRNA in the LOXL1 locus modulates expression of genes relevant to exfoliation glaucoma pathobiology

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Association of miR-182 with High Tension Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Genetic Association and Linkage at Putative Risk Loci for Primary Open-angle Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium.

Journal Article Invest Ophthalmol Vis Sci · August 1, 2016 PURPOSE: Noncoding microRNAs (miRNAs) have been implicated in the pathogenesis of glaucoma. We aimed to identify common variants in miRNA coding genes (MIR) associated with primary open-angle glaucoma (POAG). METHODS: Using the NEIGHBORHOOD data set (3853 ... Full text Link to item Cite

miRNA Profile in Three Different Normal Human Ocular Tissues by miRNA-Seq.

Journal Article Invest Ophthalmol Vis Sci · July 1, 2016 PURPOSE: Because microRNAs (miRNAs) have been associated with eye diseases, our study aims to profile ocular miRNA expression in normal human ciliary body (CB), cornea, and trabecular meshwork (TM) using miRNA-Seq to provide a foundation for better underst ... Full text Link to item Cite

Addressing ethical challenges in the Genetics Substudy of the National Eye Survey of Trinidad and Tobago (GSNESTT).

Journal Article Appl Transl Genom · June 2016 BACKGROUND: The conduct of international collaborative genomics research raises distinct ethical challenges that require special consideration, especially if conducted in settings that are research-naïve or resource-limited. Although there is considerable ... Full text Link to item Cite

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Journal Article Nat Genet · May 2016 Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Aus ... Full text Link to item Cite

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Journal Article Nat Genet · February 2016 Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering varia ... Full text Link to item Cite

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Journal Article Nat Genet · February 2016 Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. To identify new susceptibility loci, we performed meta-analysis on genome-wide association study (GWAS) results from eight independent studies from the United States (3,853 cases ... Full text Link to item Cite

Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.

Journal Article Hum Mol Genet · November 15, 2015 Exfoliation syndrome (XFS) is a common, age-related, systemic fibrillinopathy. It greatly increases risk of exfoliation glaucoma (XFG), a major worldwide cause of irreversible blindness. Coding variants in the lysyl oxidase-like 1 (LOXL1) gene are strongly ... Full text Link to item Cite

Expression Profiling of Human Schlemm's Canal Endothelial Cells From Eyes With and Without Glaucoma.

Journal Article Invest Ophthalmol Vis Sci · October 2015 PURPOSE: Ocular hypertension is a major risk factor for glaucoma and the inner wall of Schlemm's canal (SC) endothelia participates in the regulation of aqueous humor outflow resistance. This study aimed to identify differentially expressed genes in primar ... Full text Link to item Cite

Effect of genetic variation in the nicotinic receptor genes on risk for posttraumatic stress disorder.

Journal Article Psychiatry Res · September 30, 2015 The present study examined the association between genetic variation in the nicotinic receptor gene family (CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNA9, CHRNA10, CHRNB2, CHRNB3, CHRNB4) and the occurrence of posttraumatic stress disorder (PTSD). ... Full text Link to item Cite

Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.

Journal Article J Affect Disord · September 15, 2015 BACKGROUND: Posttraumatic stress disorder (PTSD) is a psychiatric disorder that can develop after experiencing traumatic events. A genome-wide association study (GWAS) design was used to identify genetic risk factors for PTSD within a multi-racial sample p ... Full text Link to item Cite

A common variant near TGFBR3 is associated with primary open angle glaucoma.

Journal Article Hum Mol Genet · July 1, 2015 Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significa ... Full text Link to item Cite

Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population.

Journal Article J Negat Results Biomed · June 4, 2015 BACKGROUND: Keratoconus (KC) is the most common primary ectatic disease of the cornea and a major indication for corneal transplant. To date, limited KC-associated-risk loci have been identified. Association has recently been suggested between KC and 8 sin ... Full text Link to item Cite

Mouse Genomic Loci Modulating Corneal Thickness

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2015 Link to item Cite

Association between CCT-associated variants and keratoconus in a Saudi Arabian population

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2015 Link to item Cite

In search of novel CYP1B1 mutations that cause primary congenital glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2015 Link to item Cite

Identification of a novel locus for Exfoliation Syndrome

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2015 Link to item Cite

GENOMIC LOCI MODULATING GANGLION CELL DEATH FOLLOWING ELEVATED IOP IN THE MOUSE

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2015 Link to item Cite

EFFECT OF THE APOE ε4 ALLELE AND COMBAT EXPOSURE ON PTSD AMONG IRAQ/AFGHANISTAN-ERA VETERANS.

Journal Article Depress Anxiety · May 2015 BACKGROUND: The apolipoprotein E (APOE) ε4 allele has been implicated in a range of neuropsychiatric conditions. The present research examined if the ε4 allele of the APOE gene moderated the effect of combat exposure on posttraumatic stress disorder (PTSD) ... Full text Link to item Cite

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Journal Article Nat Genet · April 2015 Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up th ... Full text Link to item Cite

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.

Journal Article Genet Epidemiol · March 2015 Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim ... Full text Link to item Cite

The genetics of POAG in black South Africans: a candidate gene association study.

Journal Article Sci Rep · February 11, 2015 Multiple loci have been associated with either primary open angle glaucoma (POAG) or heritable ocular quantitative traits associated with this condition. This study examined the association of these loci with POAG, with central corneal thickness (CCT), ver ... Full text Link to item Cite

An examination of the association between 5-HTTLPR, combat exposure, and PTSD diagnosis among U.S. veterans.

Journal Article PLoS One · 2015 OBJECTIVE: To examine the association between the 5-HTTLPR polymorphism of the serotonin transporter (SLC6A4) gene, combat exposure, and posttraumatic stress disorder (PTSD) diagnosis and among two samples of combat-exposed veterans. METHOD: The first samp ... Full text Link to item Cite

Screening of the Seed Region of MIR184 in Keratoconus Patients from Saudi Arabia.

Journal Article Biomed Res Int · 2015 Micro-RNAs (miRNAs) are regulators of gene expression that control various biological processes. The role of many identified miRNAs is not yet resolved. Recent evidence suggests that miRNA mutations and/or misexpression may contribute to genetic disorders. ... Full text Link to item Cite

Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population

Journal Article Journal of Negative Results in BioMedicine · 2015 © 2015 Abu-Amero et al.Background: Keratoconus (KC) is the most common primary ectatic disease of the cornea and a major indication for corneal transplant. To date, limited KC-associated-risk loci have been identified. Association has recently been suggest ... Full text Cite

Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.

Journal Article Invest Ophthalmol Vis Sci · December 23, 2014 PURPOSE: Recently the common SIX6 missense variant rs33912345 was found to be highly associated with glaucoma. The aim of this study was to investigate the association between this SIX6 variant and peripapillary retinal nerve fiber layer (RNFL) thickness m ... Full text Link to item Cite

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.

Journal Article Invest Ophthalmol Vis Sci · November 20, 2014 PURPOSE: We examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG). METHODS: Our study included DNA samples from two studies (NEIGHBOR and GLAUGEN). All the samples were genotyped with ... Full text Link to item Cite

African-American TOMM40'523-APOE haplotypes are admixture of West African and Caucasian alleles.

Journal Article Alzheimers Dement · November 2014 BACKGROUND: Several studies have demonstrated a lower apolipoprotein E4 (APOE ε4) allele frequency in African-Americans, but yet an increased age-related prevalence of AD. An algorithm for prevention clinical trials incorporating TOMM40'523 (Translocase of ... Full text Link to item Cite

Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma.

Journal Article Hum Genet · October 2014 Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. Using genome-wide association single-nucleotide polymorphism data from the Glaucoma Genes and Environment study and National Eye Institute Glaucoma Human Genetics Collaboration c ... Full text Link to item Cite

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

Journal Article Nat Genet · October 2014 Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population coh ... Full text Link to item Cite

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.

Journal Article Nat Genet · October 2014 Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 controls. We investigated the associ ... Full text Link to item Cite

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Journal Article Nat Commun · September 22, 2014 Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of verti ... Full text Link to item Cite

Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.

Journal Article Invest Ophthalmol Vis Sci · June 10, 2014 PURPOSE: We investigated whether mitochondrial DNA (mtDNA) variants affect the susceptibility of Fuchs endothelial corneal dystrophy (FECD). METHODS: Ten mtDNA variants defining European haplogroups were genotyped in a discovery dataset consisting of 530 c ... Full text Link to item Cite

Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma.

Journal Article Eye (Lond) · June 2014 AIMS: Vascular perfusion may be impaired in primary open-angle glaucoma (POAG); thus, we evaluated a panel of markers in vascular tone-regulating genes in relation to POAG. METHODS: We used Illumina 660W-Quad array genotype data and pooled P-values from 31 ... Full text Link to item Cite

RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.

Journal Article Mol Ther Nucleic Acids · April 29, 2014 Recent progress suggests gene therapy may one day be an option for treating some forms of limb girdle muscular dystrophy (LGMD). Nevertheless, approaches targeting LGMD have so far focused on gene replacement strategies for recessive forms of the disease. ... Full text Link to item Cite

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

Journal Article PLoS Genet · March 2014 Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian de ... Full text Link to item Cite

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.

Journal Article Clin Genet · February 2014 The term 'limb-girdle myasthenia' (LGM) was first used to describe three siblings with proximal limb weakness without oculobulbar involvement, but with EMG decrement and responsiveness to anticholinesterase medication. We report here that exome sequencing ... Full text Link to item Cite

Hepatic gene expression profiles differentiate presymptomatic patients with mild versus severe nonalcoholic fatty liver disease.

Journal Article Hepatology · February 2014 UNLABELLED: Clinicians rely upon the severity of liver fibrosis to segregate patients with well-compensated nonalcoholic fatty liver disease (NAFLD) into subpopulations at high- versus low-risk for eventual liver-related morbidity and mortality. We compare ... Full text Link to item Cite

Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.

Journal Article Ophthalmology · February 2014 PURPOSE: The CAV1/CAV2 (caveolin 1 and caveolin 2) genomic region previously was associated with primary open-angle glaucoma (POAG), although replication among independent studies has been variable. The aim of this study was to assess the association betwe ... Full text Link to item Cite

Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage.

Journal Article PLoS One · 2014 The Rgcs1 quantitative trait locus, on mouse chromosome 5, influences susceptibility of retinal ganglion cells to acute damage of the optic nerve. Normally resistant mice (DBA/2J) congenic for the susceptible allele from BALB/cByJ mice exhibit susceptibili ... Full text Link to item Cite

Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.

Journal Article PLoS Genet · 2014 Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic inheritance. Genome-wide association studies have previously identified a significant association betwe ... Full text Link to item Cite

Lack of association between lysyl oxidase-like 1 polymorphisms and primary open angle glaucoma: a meta-analysis.

Journal Article Int J Ophthalmol · 2014 AIM: To study the associations between lysyl oxidase-like 1 (LOXL1) polymorphisms and primary open angle glaucoma (POAG) remain inconsistent. In this study, we have performed a meta-analysis to investigate the association of LOXL1 polymorphisms with POAG r ... Full text Link to item Cite

Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association.

Journal Article Mol Vis · 2014 PURPOSE: Osteogenesis imperfecta (OI) is a group of inherited disorders characterized by bone fragility. Ocular findings include blue sclera, low ocular rigidity, and thin corneal thickness. However, there are no documented cases linking OI and primary ope ... Link to item Cite

Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma

Journal Article PLoS genetics · January 1, 2014 Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic inheritance. Genome-wide association studies have previously identified a significant association betwe ... Full text Cite

Genome-wide association study and meta-analysis of intraocular pressure.

Journal Article Hum Genet · January 2014 Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angle glau ... Full text Link to item Cite

Relationship between methylome and transcriptome in patients with nonalcoholic fatty liver disease.

Journal Article Gastroenterology · November 2013 BACKGROUND & AIMS: Cirrhosis and liver cancer are potential outcomes of advanced nonalcoholic fatty liver disease (NAFLD). It is not clear what factors determine whether patients will develop advanced or mild NAFLD, limiting noninvasive diagnosis and treat ... Full text Link to item Cite

Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.

Journal Article Invest Ophthalmol Vis Sci · September 27, 2013 PURPOSE: To identify the specific genes in human trabecular meshwork (TM) related to POAG. METHODS: Primary open-angle glaucoma TM specimens were obtained from routine trabeculectomy surgery. Nonglaucomatous control TM specimens were dissected from donor e ... Full text Link to item Cite

Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.

Journal Article Invest Ophthalmol Vis Sci · September 17, 2013 PURPOSE: Multiple genes have been associated with primary open angle glaucoma (POAG) in Caucasian populations. We now examine the association of these loci in populations of African ancestry, populations at particularly high risk for POAG. METHODS: We geno ... Full text Link to item Cite

The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables.

Journal Article J Glaucoma · September 2013 Primary open-angle glaucoma (POAG) is a common disease with complex inheritance. The identification of genes predisposing to POAG is an important step toward the development of novel gene-based methods of diagnosis and treatment. Genome-wide association st ... Full text Link to item Cite

Association of Variant rs4790904 in Protein Kinase C Alpha with Posttraumatic Stress Disorder in a U.S. Caucasian and African-American Veteran Sample.

Journal Article J Depress Anxiety · June 1, 2013 BACKGOUND: Posttraumatic stress sisorder (PTSD) is a complex anxiety disorder that can develop after traumatic event exposure. Genetic factors have been associated with PTSD risk. Recently a variant rs4790904 in the protein kinase C alpha (PRKCA) gene has ... Full text Link to item Cite

A genome-wide association study of central corneal thickness in Latinos.

Journal Article Invest Ophthalmol Vis Sci · April 1, 2013 PURPOSE: Central corneal thickness (CCT) is a clinically important risk factor for primary open-angle glaucoma and keratoconus. Genetic factors controlling CCT in Latinos, the most populous minority population in the United States, are unclear. Here we des ... Full text Link to item Cite

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Journal Article Nat Genet · February 2013 Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide signi ... Full text Link to item Cite

CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.

Journal Article Am J Ophthalmol · February 2013 PURPOSE: To assess the association between single nucleotide polymorphisms (SNPs) of the gene region containing cyclin-dependent kinase inhibitor 2B antisense noncoding RNA (CDKN2B-AS1) and glaucoma features among primary open-angle glaucoma (POAG) patient ... Full text Link to item Cite

Molecular biomarkers in glaucoma.

Journal Article Invest Ophthalmol Vis Sci · January 7, 2013 Full text Link to item Cite

Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.

Journal Article Mol Vis · 2013 PURPOSE: Fuchs endothelial corneal dystrophy (FECD) is a genetically heterogeneous disorder that has been primarily studied in patients of European or Asian ancestry. Given the sparse literature on African Americans with FECD, we sought to characterize the ... Link to item Cite

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States.

Journal Article Mol Vis · 2013 PURPOSE: Circulating estrogen levels are relevant in glaucoma phenotypic traits. We assessed the association between an estrogen metabolism single nucleotide polymorphism (SNP) panel in relation to primary open angle glaucoma (POAG), accounting for gender. ... Link to item Cite

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.

Journal Article Nat Commun · 2013 Excitation-contraction coupling, the process that regulates contractions by skeletal muscles, transduces changes in membrane voltage by activating release of Ca(2+) from internal stores to initiate muscle contraction. Defects in excitation-contraction coup ... Full text Link to item Cite

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

Journal Article Nat Genet · October 2012 Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 P ... Full text Link to item Cite

Lack of association between LOXL1 gene polymorphisms and primary open angle glaucoma in the Saudi Arabian population.

Journal Article Ophthalmic Genet · September 2012 PURPOSE: To investigate whether major single nucleotide polymorphisms (SNPs) in the LOXL1 gene associated with pseudoexfoliation glaucoma are associated with primary open angle glaucoma (POAG) in the Saudi Arabian population. METHODS: The regions of the LO ... Full text Link to item Cite

Consumer perspectives on genetic testing for psychiatric disorders: the attitudes of veterans with posttraumatic stress disorder and their families.

Journal Article Genet Test Mol Biomarkers · September 2012 The perspectives of patients with posttraumatic stress disorder (PTSD) on genetic research have not yet been investigated in the genetics research literature. To provide a basis for research on attitudes toward genetic research in PTSD, we surveyed the U.S ... Full text Link to item Cite

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Journal Article Invest Ophthalmol Vis Sci · July 3, 2012 PURPOSE: To investigate the effects of central corneal thickness (CCT)-associated variants on primary open-angle glaucoma (POAG) risk using single nucleotide polymorphisms (SNP) data from the Glaucoma Genes and Environment (GLAUGEN) and National Eye Instit ... Full text Link to item Cite

The Genetics of Keratoconus: A Review.

Journal Article Reprod Syst Sex Disord · June 3, 2012 Keratoconus is the most common ectatic disorder of the corneal. Genetic and environmental factors may contribute to its pathogenesis. The focus of this article is to summarize current research into the complex genetics of keratoconus. We discuss the eviden ... Full text Link to item Cite

Anhedonia in Japanese patients with Parkinson's disease: analysis using the Snaith-Hamilton Pleasure Scale.

Journal Article Clin Neurol Neurosurg · May 2012 BACKGROUND: Anhedonia, a lowered ability to experience physical or social pleasure, has recently been recognized as a non-motor symptom of Parkinson's disease. OBJECTIVE: To identify the frequency of anhedonia and the factors influencing hedonic tone in Ja ... Full text Link to item Cite

Epigenetic Regulation of Gene Expression in NAFLD

Conference GASTROENTEROLOGY · May 1, 2012 Link to item Cite

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Journal Article Nat Genet · February 26, 2012 Limb-girdle muscular dystrophy type 1D (LGMD1D) was linked to chromosome 7q36 over a decade ago, but its genetic cause has remained elusive. Here we studied nine LGMD-affected families from Finland, the United States and Italy and identified four dominant ... Full text Link to item Cite

Characterization of the poly-T variant in the TOMM40 gene in diverse populations.

Journal Article PLoS One · 2012 We previously discovered that a polymorphic, deoxythymidine-homopolymer (poly-T, rs10524523) in intron 6 of the TOMM40 gene is associated with age-of-onset of Alzheimer's disease and with cognitive performance in elderly. Three allele groups were defined f ... Full text Link to item Cite

Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

Journal Article Mol Vis · 2012 PURPOSE: Mutations in the myocilin gene (MYOC) are associated with primary open-angle glaucoma (POAG) in many different populations. This study represents the first large survey of MYOC mutations in an African American population. METHODS: We recruited 529 ... Link to item Cite

Mitochondrial genetic background in Ghanaian patients with primary open-angle glaucoma.

Journal Article Mol Vis · 2012 PURPOSE: Prevalence rates for primary open-angle glaucoma (POAG) are significantly higher in Africans than in European or Asians. It has been reported recently that mitochondrial DNA (mtDNA) lineages of African origin, excluding L2, conferred susceptibilit ... Link to item Cite

Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.

Journal Article PLoS Genet · 2012 Optic nerve degeneration caused by glaucoma is a leading cause of blindness worldwide. Patients affected by the normal-pressure form of glaucoma are more likely to harbor risk alleles for glaucoma-related optic nerve disease. We have performed a meta-analy ... Full text Link to item Cite

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

Journal Article PLoS One · 2012 The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes for skeletal and cardiac muscle disease) precludes exhaustive clinical testing, prioritizing sequencing of specific genes is difficult due to the similarit ... Full text Link to item Cite

A high-density genome-wide association screen of sporadic ALS in US veterans.

Journal Article PLoS One · 2012 Following reports of an increased incidence of amyotrophic lateral sclerosis (ALS) in U.S. veterans, we have conducted a high-density genome-wide association study (GWAS) of ALS outcome and survival time in a sample of U.S. veterans. We tested ∼1.3 million ... Full text Link to item Cite

The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma.

Journal Article Mol Vis · 2012 PURPOSE: To investigate whether DNA copy number variants (CNVs) in the lysyl oxidase-like 1 (LOXL1) gene are associated with exfoliation glaucoma (XFG) in black South Africans. METHODS: Black South African subjects with XFG and age-matched unaffected contr ... Link to item Cite

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.

Journal Article Hum Mol Genet · August 1, 2011 Sarcomeric α-actinins (α-actinin-2 and -3) are a major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to maintain an ordered myofibrillar array. Homozygosity for the common null polymorphism (R577X) in ... Full text Link to item Cite

Pathway-based identification of SNPs predictive of survival.

Journal Article Eur J Hum Genet · June 2011 In recent years, several association analysis methods for case-control studies have been developed. However, as we turn towards the identification of single nucleotide polymorphisms (SNPs) for prognosis, there is a need to develop methods for the identific ... Full text Link to item Cite

Serotonin transporter gene polymorphisms and brain function during emotional distraction from cognitive processing in posttraumatic stress disorder.

Journal Article BMC Psychiatry · May 5, 2011 BACKGROUND: Serotonergic system dysfunction has been implicated in posttraumatic stress disorder (PTSD). Genetic polymorphisms associated with serotonin signaling may predict differences in brain circuitry involved in emotion processing and deficits associ ... Full text Open Access Link to item Cite

Myocilin mutations in black South Africans with POAG.

Journal Article Mol Vis · April 27, 2011 PURPOSE: Myocilin (MYOC) mutations are associated with primary open-angle glaucoma (POAG) in multiple populations. Here we examined the role of MYOC mutations in a black South African population with primary open-angle glaucoma (POAG). METHODS: Unrelated b ... Link to item Cite

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

Journal Article PLoS One · April 20, 2011 Fuchs endothelial corneal dystrophy (FECD) is a common, late-onset disorder of the corneal endothelium. Although progress has been made in understanding the genetic basis of FECD by studying large families in which the phenotype is transmitted in an autoso ... Full text Link to item Cite

Serial analysis of gene expression (SAGE) in normal human trabecular meshwork.

Journal Article Mol Vis · April 8, 2011 PURPOSE: To identify the genes expressed in normal human trabecular meshwork tissue, a tissue critical to the pathogenesis of glaucoma. METHODS: Total RNA was extracted from human trabecular meshwork (HTM) harvested from 3 different donors. Extracted RNA w ... Link to item Cite

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

Journal Article Mol Vis · 2011 PURPOSE: Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG is a clinical and genetic entity that is distinct from juvenile forms of glaucoma. Inheritance is usually autosomal recessive and therefore the disease ... Link to item Cite

GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease.

Journal Article PLoS One · 2011 DNA copy number variants (CNVs) have been reported in many human diseases including autism and schizophrenia. Primary Open Angle Glaucoma (POAG) is a complex adult-onset disorder characterized by progressive optic neuropathy and vision loss. Previous studi ... Full text Link to item Cite

Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis.

Journal Article PLoS One · 2011 Primary open-angle glaucoma (POAG) is the most common form of glaucoma and one of the leading causes of vision loss worldwide. The genetic etiology of POAG is complex and poorly understood. The purpose of this work is to identify genomic regions of interes ... Full text Link to item Cite

Heparan sulfate, including that in Bruch's membrane, inhibits the complement alternative pathway: implications for age-related macular degeneration.

Journal Article J Immunol · November 1, 2010 An imbalance between activation and inhibition of the complement system has been implicated in the etiologies of numerous common diseases. Allotypic variants of a key complement fluid-phase regulatory protein, complement factor H (CFH), are strongly associ ... Full text Link to item Cite

PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease.

Journal Article Sci Transl Med · October 6, 2010 Parkinson's disease affects 5 million people worldwide, but the molecular mechanisms underlying its pathogenesis are still unclear. Here, we report a genome-wide meta-analysis of gene sets (groups of genes that encode the same biological pathway or process ... Full text Link to item Cite

Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

Journal Article J Hum Genet · October 2010 Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent wi ... Full text Link to item Cite

Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population.

Journal Article Mol Vis · April 21, 2010 PURPOSE: To investigate whether variants in the lysyl oxidase-like 1 (LOXL1) gene are associated with exfoliation glaucoma (XFG) and primary open-angle glaucoma (POAG) in an ancestral population from South Africa. METHODS: Black South African subjects with ... Link to item Cite

The pivotal role of the complement system in aging and age-related macular degeneration: hypothesis re-visited.

Journal Article Prog Retin Eye Res · March 2010 During the past ten years, dramatic advances have been made in unraveling the biological bases of age-related macular degeneration (AMD), the most common cause of irreversible blindness in western populations. In that timeframe, two distinct lines of evide ... Full text Link to item Cite

AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma.

Journal Article Mol Vis · January 20, 2010 PURPOSE: Recent evidence supports the role of reduced cerebrospinal fluid (CSF) pressure in the pathogenesis of primary open-angle glaucoma (POAG). We investigated the association of variants in two candidate genes that are important in CSF production, aqu ... Link to item Cite

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

Journal Article Am J Hum Genet · April 2009 Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders. One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia and dysphonia (vocal cord and pharyngeal weakness with d ... Full text Link to item Cite

Rapid and sensitive method for detection of Y402, H402, I62, and V62 variants of complement factor H in human plasma samples using mass spectrometry.

Journal Article Invest Ophthalmol Vis Sci · April 2009 PURPOSE: Variations in the complement factor H (CFH) gene are tightly associated with age-related macular degeneration (AMD) across diverse populations. Of the many nonsynonymous coding variants in CFH, two are most strongly associated with increased risk ... Full text Link to item Cite

Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations.

Journal Article Invest Ophthalmol Vis Sci · August 2008 PURPOSE: Significant association has recently been reported between pseudoexfoliation glaucoma (XFG) and two single-nucleotide polymorphisms (SNPs), rs3825942, and rs1048661, in the lysyl oxidase-like 1 gene (LOXL1). The purpose of this study was to invest ... Full text Link to item Cite

NEIBank: genomics and bioinformatics resources for vision research.

Journal Article Mol Vis · July 18, 2008 NEIBank is an integrated resource for genomics and bioinformatics in vision research. It includes expressed sequence tag (EST) data and sequence-verified cDNA clones for multiple eye tissues of several species, web-based access to human eye-specific SAGE d ... Link to item Cite

Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration.

Journal Article PLoS One · May 7, 2008 The objective of this study was to determine if MTND2*LHON4917G (4917G), a specific non-synonymous polymorphism in the mitochondrial genome previously associated with neurodegenerative phenotypes, is associated with increased risk for age-related macular d ... Full text Open Access Link to item Cite

Myotilin overexpression enhances myopathology in the LGMD1A mouse model.

Journal Article Muscle Nerve · May 2008 Missense mutations in the myotilin gene cause limb-girdle muscular dystrophy type 1A (LGMD1A). We set out to examine the effect of overexpression of wild-type myotilin in an LGMD1A mouse model by crossing wild-type and mutant transgenic mice. Compared to s ... Full text Link to item Cite

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.

Journal Article Hum Mol Genet · April 1, 2008 Age-related macular degeneration (AMD) impairs vision for approximately 7.5 million Americans. Both susceptibility variants and protective haplotypes in the complement factor H (CFH) gene modulate risk for AMD. Recently, deletion of the 'CFH-related' genes ... Full text Link to item Cite

Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration.

Journal Article Ophthalmology · March 2008 OBJECTIVE: To examine phenotypes of age-related macular degeneration (AMD) patients with the complement factor H (CFH) variant (Y402H, C allele at rs1061170). DESIGN: Clinic-based case series study. PARTICIPANTS: The data set contained a total of 956 unrel ... Full text Link to item Cite

Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration.

Journal Article Am J Ophthalmol · February 2008 PURPOSE: To examine phenotypes of age-related macular degeneration (AMD) patients with the LOC387715 variant (T allele at rs10490924, A69S). DESIGN: Retrospective, observational case series. METHODS: This clinic-based case series data set contained 775 unr ... Full text Link to item Cite

Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma.

Journal Article Mol Vis · January 29, 2008 PURPOSE: To identify if recently described LOXL1 (lysyl oxidase-like 1) polymorphisms are associated with pseudoexfoliation glaucoma (XFG) in a United States (U.S.) Caucasian patient population. METHODS: Individuals with XFG were identified using standard ... Link to item Cite

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

Journal Article Mol Vis · 2008 PURPOSE: Coding variants in the optineurin gene (OPTN, GLC1E) have been reported to play a role in primary open-angle glaucoma (POAG) in various populations. This study investigated the role of OPTN sequence variants in patients with POAG in Ghana (West Af ... Link to item Cite

No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations.

Journal Article Mol Vis · November 26, 2007 PURPOSE: To investigate whether recently described polymorphisms in the optic atrophy 1 gene (OPA1) are associated with primary open-angle glaucoma (POAG) with elevated intraocular pressure in the Caucasian, African-American, and Ghanaian (West African) po ... Link to item Cite

A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.

Journal Article Mol Cell Neurosci · November 2007 APOE4 allele is a major risk factor for late-onset Alzheimer disease (AD). The mechanism of action of APOE in AD remains unclear. To study the effects of APOE alleles on gene expression in AD, we have analyzed the gene transcription patterns of human hippo ... Full text Link to item Cite

Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration.

Journal Article Invest Ophthalmol Vis Sci · September 2007 PURPOSE: Age-related macular degeneration (AMD) is a devastating disorder that adversely affects the quality of life of nearly 2 million Americans who have advanced forms of the disease. Besides the well-known risk imparted by carrying the Y402H variant in ... Full text Link to item Cite

Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration.

Journal Article Hum Mol Genet · August 15, 2007 Featured Publication Age-related macular degeneration (AMD) is a devastating disorder of the central retina, causing significant visual impairment for 7.5 million elderly Americans. Abnormal regulation of the complement system likely caused by the Y402H polymorphism in the com ... Full text Link to item Cite

Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration.

Journal Article Ophthalmology · June 2007 Featured Publication OBJECTIVE: To examine the potential gene-environment interaction between cigarette smoking and the complement factor H (CFH) T1277C polymorphism, 2 strong risk factors for age-related macular degeneration (AMD). DESIGN: Retrospective case-control study. PA ... Full text Link to item Cite

Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome

Journal Article Chemtracts · April 1, 2007 Recent investigations suggest that acetylation of various residues of histones H3 and H4 and trimethylation of Lys 4 of histone H3 (H3K4) in nucleosomes are characteristics of active promoters across species from yeast to mammals. Using chromatin immunopre ... Cite

Molecular markers of early Parkinson's disease based on gene expression in blood.

Journal Article Proc Natl Acad Sci U S A · January 16, 2007 Featured Publication Parkinson's disease (PD) progresses relentlessly and affects five million people worldwide. Laboratory tests for PD are critically needed for developing treatments designed to slow or prevent progression of the disease. We performed a transcriptome-wide sc ... Full text Link to item Cite

Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism.

Journal Article Arch Ophthalmol · January 2007 Featured Publication OBJECTIVE: To compare phenotypes of 2 age-related macular degeneration (AMD) susceptibility genes: LOC387715 and complement factor H (CFH). METHODS: Phenotypes of 755 AMD cases were characterized. The number of LOC387715 (T allele at rs10490924, or A69S) a ... Full text Link to item Cite

Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease.

Journal Article Mov Disord · December 2006 Featured Publication Monoamine oxidase (MAO) is an enzyme regulating metabolism of neurotransmitters such as dopamine. Two distinct forms of enzyme, encoded by genes MAOA and MAOB located on the X chromosome, have been considered as possible factors in the pathogenesis of Park ... Full text Link to item Cite

Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States.

Journal Article J Glaucoma · October 2006 Featured Publication PURPOSE: Previous studies have suggested that Optineurin (OPTN) sequence variants contribute to low-tension glaucoma (LTG) in ethnically homogeneous populations. The purpose of this study is to evaluate the prevalence of OPTN sequence variants in an ethnic ... Full text Link to item Cite

NOS2A and the modulating effect of cigarette smoking in Parkinson's disease.

Journal Article Ann Neurol · September 2006 Featured Publication OBJECTIVE: Inducible nitric oxide synthase, a protein product of NOS2A, generates nitric oxide as a defense mechanism, but excessive levels threaten cellular survival. NOS2A is a candidate gene for Parkinson's disease (PD) that potentially interacts with c ... Full text Link to item Cite

Complement factor H increases risk for atrophic age-related macular degeneration.

Journal Article Ophthalmology · September 2006 Featured Publication OBJECTIVE: To determine if the complement factor H gene (CFH) determines risk for development of geographic atrophy (GA). DESIGN: Retrospective case-control study. PARTICIPANTS AND CONTROLS: The independent case-control data set contained 647 age-related m ... Full text Link to item Cite

Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.

Journal Article Mol Vis · August 28, 2006 Featured Publication PURPOSE: To describe the clinical, ocular, and genetic findings in multiple members of a family with early-onset and bilateral lens dislocation, clinical corneal guttae, and glaucoma. METHODS: All family members underwent complete physical and ophthalmic e ... Link to item Cite

Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.

Journal Article Hum Mol Genet · August 1, 2006 Featured Publication Myotilin is a muscle-specific Z-disc protein with putative roles in myofibril assembly and structural upkeep of the sarcomere. Several myotilin point mutations have been described in patients with limb-girdle muscular dystrophy type 1A (LGMD1A), myofibrill ... Full text Link to item Cite

Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE.

Journal Article Invest Ophthalmol Vis Sci · June 2006 Featured Publication PURPOSE: To develop large-scale, high-throughput annotation of the human macula transcriptome and to identify and prioritize candidate genes for inherited retinal dystrophies, based on ocular-expression profiles using serial analysis of gene expression (SA ... Full text Link to item Cite

Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma.

Journal Article Invest Ophthalmol Vis Sci · June 2006 Featured Publication PURPOSE: To determine the distribution of WDR36 sequence variants in a cohort of patients with primary open-angle glaucoma (POAG) in the United States. METHODS: All of the 23 coding exons and flanking introns of the WDR36 gene were sequenced in 118 proband ... Full text Link to item Cite

Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.

Journal Article Am J Hum Genet · May 2006 Featured Publication We used iterative association mapping to identify a susceptibility gene for age-related macular degeneration (AMD) on chromosome 10q26, which is one of the most consistently implicated linkage regions for this disorder. We employed linkage analysis methods ... Full text Link to item Cite

Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).

Journal Article Ann Hum Genet · May 2006 Featured Publication Myotilin (MYOT) is a promising candidate gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM, also known as MPD2). Located within the minimum VCPDM candidate interval, myotilin mutations also cause a similarly progressive and adult-onse ... Full text Link to item Cite

A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.

Journal Article Eur J Hum Genet · March 2006 Asthma is a complex disease and the intricate interplay between genetic and environmental factors underlies the overall phenotype of the disease. Families with at least two siblings with asthma were collected from Europe, Australia and the US. A genome sca ... Full text Link to item Cite

Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.

Journal Article Invest Ophthalmol Vis Sci · January 2006 PURPOSE: Age-related macular degeneration (AMD) is a retinal degenerative disease that is the leading cause of blindness worldwide for individuals over the age of 60. Although the etiology of AMD remains largely unknown, numerous studies have suggested tha ... Full text Link to item Cite

SNPselector: a web tool for selecting SNPs for genetic association studies.

Journal Article Bioinformatics · November 15, 2005 Featured Publication SUMMARY: Single nucleotide polymorphisms (SNPs) are commonly used for association studies to find genes responsible for complex genetic diseases. With the recent advance of SNP technology, researchers are able to assay thousands of SNPs in a single experim ... Full text Link to item Cite

Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra.

Journal Article Mov Disord · October 2005 Featured Publication Genomic convergence is a multistep approach that combines gene expression with genomic linkage to identify and prioritize susceptibility genes for complex disease. As a first step, we previously performed linkage analysis on 174 multiplex Parkinson's disea ... Full text Link to item Cite

Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism.

Journal Article Arch Neurol · June 2005 Featured Publication BACKGROUND: Parkinson disease (PD) is characterized by loss of dopaminergic neurons in the substantia nigra. Genes contributing to rare mendelian forms of PD have been identified, but the genes involved in the more common idiopathic PD are not well underst ... Full text Link to item Cite

Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.

Journal Article Hum Genet · June 2005 Featured Publication Inflammatory processes have been implicated in the cascade of events that lead to nerve cell death. In the nervous system, a number of genes involved in inflammation pathways are regulated post-transcriptionally via the interaction of their mRNAs with spec ... Full text Link to item Cite

Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.

Journal Article Invest Ophthalmol Vis Sci · June 2005 Featured Publication PURPOSE: Primary open-angle glaucoma (POAG) is a complex inherited disorder. It has been demonstrated in other complex disorders that phenotypic heterogeneity may be the result of genetic heterogeneity and that stratification analysis can be used to increa ... Full text Link to item Cite

Complement factor H variant increases the risk of age-related macular degeneration.

Journal Article Science · April 15, 2005 Featured Publication Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucl ... Full text Link to item Cite

Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype.

Journal Article Neurogenetics · September 2004 We and others have previously detected association of the Tau H1 haplotype on chromosome 17 with risk of idiopathic Parkinson disease (PD). The H1 haplotype appears to have a fundamental importance in neurodegeneration, as multiple studies have shown it is ... Full text Link to item Cite

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.

Journal Article Am J Hum Genet · September 2004 Featured Publication A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic fa ... Full text Link to item Cite

Apolipoprotein E controls the risk and age at onset of Parkinson disease.

Journal Article Neurology · June 8, 2004 Featured Publication BACKGROUND: Similarities between Alzheimer disease (AD) and Parkinson disease (PD) suggest a possible role for apolipoprotein E (APOE) in PD. Most previous studies seeking to establish such a link used case-control datasets and results have been inconsiste ... Full text Link to item Cite

Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease.

Journal Article Am J Hum Genet · June 2004 Featured Publication The pathogenic process responsible for the loss of dopaminergic neurons within the substantia nigra of patients with Parkinson disease (PD) is poorly understood. Current research supports the involvement of fibroblast growth factor (FGF20) in the survival ... Full text Link to item Cite

Evaluation of NOS3 polymorphisms in patients with primary open angle glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2004 Link to item Cite

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.

Journal Article Hum Mol Genet · December 15, 2003 Featured Publication We previously reported genetic linkage of loci controlling age-at-onset in Alzheimer disease (AD) and Parkinson's disease (PD) to a 15 cM region on chromosome 10q. Given the large number of genes in this initial starting region, we applied the process of ' ... Full text Link to item Cite

Investigating candidate genes and novel ESTS in primary open angle glaucoma.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · November 1, 2003 Link to item Cite

Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma.

Journal Article Arch Ophthalmol · August 2003 OBJECTIVE: To determine whether mutations in the optineurin gene contribute to susceptibility to adult-onset primary open-angle glaucoma. METHODS: The optineurin gene was screened in 86 probands with adult-onset primary open-angle glaucoma and in 80 age-ma ... Full text Link to item Cite

Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics.

Journal Article J Genet Couns · August 2003 Chiari type I malformation has traditionally been defined as a downward herniation of the cerebellar tonsils of ≥5 mm through the foramen magnum and it is likely associated with a volumetrically reduced posterior fossa. Syringomyelia is commonly associated ... Full text Link to item Cite

Optineurin sequence variants do not predispose to primary open angle glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · May 1, 2003 Link to item Cite

Primary open-angle glaucoma (POAG) candidate gene analysis

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · May 1, 2003 Link to item Cite

Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage.

Journal Article Hum Mol Genet · March 15, 2003 Featured Publication We present a multifactorial, multistep approach called genomic convergence that combines gene expression with genomic linkage analysis to identify and prioritize candidate susceptibility genes for Parkinson's disease (PD). To initiate this process, we used ... Link to item Cite

myotilin Mutation found in second pedigree with LGMD1A.

Journal Article Am J Hum Genet · December 2002 Featured Publication Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness progressing to distal muscle weakness. We have reported elsewhere a mutation in the myotilin gene ... Full text Link to item Cite

Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa.

Journal Article J Glaucoma · October 2002 Featured Publication PURPOSE: Investigators have noted that primary open-angle glaucoma (POAG) in West Africa has an earlier age of onset and appears to be more clinically severe than in the United States and Europe. Primary open-angle glaucoma patients with mutations in myoci ... Full text Link to item Cite

A genome-wide scan in 433 families with early-onset coronary artery disease.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2002 Link to item Cite

Primary open-angle glaucoma (POAG) candidate gene analysis.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2002 Link to item Cite

Optineurin sequence variants do not predispose to primary open angle glaucoma.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2002 Link to item Cite

Analysis of TJP1 (tight junction protein 1) as a candidate gene for POAG

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · May 1, 2002 Link to item Cite

Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy.

Journal Article Nat Med · March 2002 Featured Publication Attempts to develop gene therapy for Duchenne muscular dystrophy (DMD) have been complicated by the enormous size of the dystrophin gene. We have performed a detailed functional analysis of dystrophin structural domains and show that multiple regions of th ... Full text Link to item Cite

A novel mutation in the gene encoding noggin is not causative in human neural tube defects.

Journal Article J Neurogenet · 2002 Featured Publication Neural tube defects (NTD) are a common birth defect, with both genetic and environmental contributions to their etiology. In mouse, null mutations in Noggin result in fully-penetrant NTDs. We investigated Noggin for mutations that may predispose to human N ... Link to item Cite

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.

Journal Article JAMA · November 14, 2001 Featured Publication CONTEXT: The human tau gene, which promotes assembly of neuronal microtubules, has been associated with several rare neurologic diseases that clinically include parkinsonian features. We recently observed linkage in idiopathic Parkinson disease (PD) to a r ... Full text Link to item Cite

Association of tau with late-onset Parkinson disease.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2001 Link to item Cite

Novel myocilin mutations in individuals with POAG from West Africa.

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · March 15, 2001 Link to item Cite

Phenotype stratification of linkage analysis in POAG: Evidence for age of onset heterogeneity.

Journal Article INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · March 15, 2001 Link to item Cite

Molecular analysis of myotilin, the gene responsible for LGMD1A.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

Myotilin is mutated in limb girdle muscular dystrophy 1A.

Journal Article Hum Mol Genet · September 1, 2000 Featured Publication We have identified a mutation in the myotilin gene in a large North American family of German descent expressing an autosomal dominant form of limb girdle muscular dystrophy (LGMD1A). We have previously mapped this gene to 5q31. Symptoms of this adult onse ... Full text Link to item Cite

Analysis of muscle creatine kinase regulatory elements in recombinant adenoviral vectors.

Journal Article Mol Ther · July 2000 Featured Publication Adenoviral gene transfer holds promise for gene therapy, but effective transduction of a large and distributed tissue such as muscle will almost certainly require systemic delivery. In this context, the use of muscle-specific regulatory elements such as th ... Full text Link to item Cite

Genome-wide scan for adult onset primary open angle glaucoma.

Journal Article Hum Mol Genet · April 12, 2000 Adult onset primary open angle glaucoma is a leading cause of blindness throughout the world. The disease results in an apoptotic death of retinal ganglion cells that is usually associated with an elevation of intraocular pressure. Familial aggregation of ... Full text Link to item Cite

Genetic mapping of a syndrome of early-onset lens dislocation

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · March 15, 2000 Link to item Cite

Positional cloning of the gene responsible for Limb Girdle Muscular Dystrophy 1A.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 1999 Link to item Cite

Expression of the 71 kDa dystrophin isoform (Dp71) evaluated by gene targeting.

Journal Article Brain Res · May 29, 1999 To investigate the function of the major non-muscle dystrophin isoform, Dp71, we substituted a beta-galactosidase (betagal) reporter gene for Dp71 by homologous recombination in embryonic stem cells. Staining for betagal activity in chimeric mice revealed ... Full text Link to item Cite

Production and characterization of improved adenovirus vectors with the E1, E2b, and E3 genes deleted.

Journal Article J Virol · February 1998 Featured Publication Adenovirus (Ad)-based vectors have great potential for use in the gene therapy of multiple diseases, both genetic and nongenetic. While capable of transducing both dividing and quiescent cells efficiently, Ad vectors have been limited by a number of proble ... Full text Link to item Cite

Improved adenoviral vectors for gene therapy of Duchenne muscular dystrophy.

Journal Article Neuromuscul Disord · July 1997 Featured Publication We have been exploring the feasibility of gene therapy for Duchenne muscular dystrophy by characterizing parameters important for the design of therapeutic protocols. These studies have used transgenic mice to analyze expression patterns of multiple dystro ... Full text Link to item Cite

Interactions between dystrophin and the sarcolemma membrane.

Journal Article Soc Gen Physiol Ser · 1997 Dystrophin serves as a link between the subsarcolemmal cytoskeleton and the extracellular matrix. The NH2 terminus attaches to the cytoskeleton, while the COOH terminus attaches to the dystrophin associated protein (DAP) complex, which can be separated int ... Link to item Cite

Interactions between dystrophin and the sarcolemma membrane

Journal Article Journal of General Physiology · January 1, 1997 Cite

Progress towards gene therapy for Duchenne muscular dystrophy.

Journal Article J Endocrinol · June 1996 Featured Publication Full text Link to item Cite

Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice.

Journal Article Hum Mol Genet · August 1995 Featured Publication Duchenne and Becker muscular dystrophy are caused by defects in the dystrophin gene, and are candidates for treatment by gene therapy. We have shown previously that overexpression of a full-length dystrophin cDNA prevents the development of dystrophic symp ... Full text Link to item Cite

A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development.

Journal Article Nat Genet · January 1993 Featured Publication To identify transcribed sequences rapidly and efficiently, we have developed a recombination-based assay to screen bacteriophage lambda libraries for sequences that share homology with a given probe. This strategy determines analytically whether a given pr ... Full text Link to item Cite

Site-specific integration of the Haemophilus influenzae bacteriophage HP1: location of the boundaries of the phage attachment site.

Journal Article J Bacteriol · October 1992 Featured Publication Plasmids containing DNA segments from the attachment region of phage HP1 were constructed and tested for the ability to replace the phage attachment site substrate in site-specific recombination reactions. The distance separating the boundaries of the func ... Full text Link to item Cite

Site-specific integration of the Haemophilus influenzae bacteriophage HP1. Identification of the points of recombinational strand exchange and the limits of the host attachment site.

Journal Article J Biol Chem · April 5, 1992 Featured Publication Isotopic transfer experiments and boundary replacement studies were used to define the size and cleavage points of the Haemophilus influenzae attB site for phage HP1 integration. The points of strand cleavage and transfer were separated by 5' extensions wi ... Link to item Cite

Plasmids for recombination-based screening.

Journal Article Gene · September 30, 1991 Featured Publication To facilitate recombination-based screening, we constructed the ColE1-based plasmid, pi G4, that confers chloramphenicol resistance, contains a polylinker with multiple unique restriction enzyme recognition sequences, and contains the genetic marker, supF. ... Full text Link to item Cite

Variation of neutrophil function with age in calves.

Journal Article American journal of veterinary research · January 1986 Neutrophil function was evaluated on 2 occasions in 5 calves from each of the following age groups: 4 to 5 weeks, 9 to 11 weeks, 16 to 19 weeks, and 12 to 14 months. Of the neutrophil functions examined, the iodination reaction, which evaluates the activit ... Cite

Glucagon stimulation of mitochondrial ATPase and potassium ion transport.

Journal Article FEBS Lett · March 15, 1977 Featured Publication Full text Link to item Cite

Initiation into peer review.

Journal Article The American journal of nursing · December 1975 Cite