Genetics of glaucoma

Nailfold capillary morphology in exfoliation syndrome

(2017) C C Cousins et al.   EYE

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals

(2017) Emmanuelle Souzeau et al.   OPHTHALMOLOGY

Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations

(2017) Abhishek Nag et al.   OPHTHALMOLOGY

Association of Daily Dosage and Type of Statin Agent With Risk of Open-Angle Glaucoma

(2017) Nidhi Talwar et al.   JAMA Ophthalmology

Caveolin-1 facilitates internalization and degradation of ABCA1 and probucol oxidative products interfere with this reaction to increase HDL biogenesis

(2016) Rui Lu et al.   ATHEROSCLEROSIS

Defects in autophagy caused by glaucoma-associated mutations in optineurin

(2016) Kapil Sirohi et al.   EXPERIMENTAL EYE RESEARCH

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

(2016) Jessica N Cooke Bailey et al.   NATURE GENETICS

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

(2016) Chiea Chuen Khor et al.   NATURE GENETICS

Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria

(2016) Benjamin Richter et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Risk for Exfoliation Syndrome in Women With Pelvic Organ Prolapse

(2016) Barbara M. Wirostko et al.   JAMA Ophthalmology

SQSTM1 Mutations and Glaucoma

(2016) Todd E. Scheetz et al.   PLoS One

Exfoliation syndrome: assembling the puzzle pieces

(2015) Louis R. Pasquale et al.   ACTA OPHTHALMOLOGICA

Ethnicity-Based Differences in the Association ofLOXL1Polymorphisms with Pseudoexfoliation/Pseudoexfoliative Glaucoma: A Meta-Analysis

(2015) Panayiota Founti et al.   ANNALS OF HUMAN GENETICS

Exfoliation syndrome

(2015) Samantha Dewundara et al.   CURRENT OPINION IN OPHTHALMOLOGY

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

(2015) Zheng Li et al.   HUMAN MOLECULAR GENETICS

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure

(2015) H. Springelkamp et al.   HUMAN MOLECULAR GENETICS

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

(2015) Tin Aung et al.   NATURE GENETICS

Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds

(2015) Dina F. Ahram et al.   PLoS One

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications

(2015) Keri F. Allen et al.   Cold Spring Harbor Perspectives in Medicine

Relation Between Time Spent Outdoors and Exfoliation Glaucoma or Exfoliation Glaucoma Suspect

(2014) Jae H. Kang et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Oxidative stress induces autophagy in response to multiple noxious stimuli in retinal ganglion cells

(2014) Wen-jian Lin et al.   Autophagy

Autosomal recessive bestrophinopathy associated with angle-closure glaucoma

(2014) C. Crowley et al.   DOCUMENTA OPHTHALMOLOGICA

Structural basis for misfolding in myocilin-associated glaucoma

(2014) Rebecca K. Donegan et al.   HUMAN MOLECULAR GENETICS

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

(2014) Puya Gharahkhani et al.   NATURE GENETICS

Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma

(2014) Yuhong Chen et al.   NATURE GENETICS

Global Prevalence of Glaucoma and Projections of Glaucoma Burden through 2040

(2014) Yih-Chung Tham et al.   OPHTHALMOLOGY

Family History Is a Strong Risk Factor for Prevalent Angle Closure in a South Indian Population

(2014) Srinivasan Kavitha et al.   OPHTHALMOLOGY

Transcellular degradation of axonal mitochondria

(2014) Chung-ha O. Davis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma

(2014) Monisha E. Nongpiur et al.   PLoS Genetics

Mutation inTMEM98in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12

(2014) Mona S. Awadalla et al.   JAMA Ophthalmology

Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

(2013) Ching-Yu Cheng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural basis for phosphorylation-triggered autophagic clearance ofSalmonella

(2013) Vladimir V. Rogov et al.   BIOCHEMICAL JOURNAL

Genotype–phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study

(2013) Alexander C Day et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Enhanced optineurin E50K–TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma

(2013) Yuriko Minegishi et al.   HUMAN MOLECULAR GENETICS

Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry

(2013) Emmanuelle Souzeau et al.   OPHTHALMOLOGY

Association of CAV1/CAV2 Genomic Variants with Primary Open-Angle Glaucoma Overall and by Gender and Pattern of Visual Field Loss

(2013) Stephanie J. Loomis et al.   OPHTHALMOLOGY

A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma

(2012) Wael Osman et al.   HUMAN MOLECULAR GENETICS

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

(2012) Eranga N Vithana et al.   NATURE GENETICS

Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma

(2012) Janey L. Wiggs et al.   PLoS Genetics

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

(2011) John H. Fingert et al.   HUMAN MOLECULAR GENETICS

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

(2011) Gulab S. Zode et al.   JOURNAL OF CLINICAL INVESTIGATION

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

(2011) Kathryn P Burdon et al.   NATURE GENETICS

Influence of Family History as a Risk Factor on Primary Angle Closure and Primary Open Angle Glaucoma in a Chinese population

(2011) Xiangmei Kong et al.   OPHTHALMIC EPIDEMIOLOGY

Demographic and Geographic Features of Exfoliation Glaucoma in 2 United States-Based Prospective Cohorts

(2011) Jae Hee Kang et al.   OPHTHALMOLOGY

Pseudoexfoliation as a risk factor for peripheral vascular disease: a case-control study

(2010) M R Praveen et al.   EYE

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

(2010) Gudmar Thorleifsson et al.   NATURE GENETICS

The Heritability and Sibling Risk of Angle Closure in Asians

(2010) Nishani Amerasinghe et al.   OPHTHALMOLOGY

NF-κB Mediates Tumor Necrosis Factor α-Induced Expression of Optineurin, a Negative Regulator of NF-κB

(2009) Cherukuri Sudhakar et al.   PLoS One

Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma

(2008) Simon Morton et al.   FEBS LETTERS