Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. - Wikidata - awgldk - TriplyDB

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

http://www.wikidata.org/entity/Q34389060

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Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change Variants in ASB10 are associated with open-angle glaucoma Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene Variations in the WDR36 gene in German patients with normal tension glaucoma Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma Regulation of intraocular pressure by soluble and membrane guanylate cyclases and their role in glaucoma Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment Structure of Utp21 Tandem WD Domain Provides Insight into the Organization of the UTPB Complex Involved in Ribosome Synthesis A Glaucoma-Associated Variant of Optineurin, M98K, Activates Tbk1 to Enhance Autophagosome Formation and Retinal Cell Death Dependent on Ser177 Phosphorylation of Optineurin Ocular expression and distribution of products of the POAG-associated chromosome 9p21 gene region Interaction between two glaucoma genes, optineurin and myocilin Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma.Association of IL1A and IL1B loci with primary open angle glaucoma.Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma.Comparison of MicroRNA Expression in Aqueous Humor of Normal and Primary Open-Angle Glaucoma Patients Using PCR Arrays: A Pilot Study Exploration of the disease locus by a careful evaluation of the likelihood polynomial for pedigree data.Serial analysis of gene expression (SAGE) in normal human trabecular meshwork.An updated meta-analysis: apolipoprotein E genotypes and risk of primary open-angle glaucoma.Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis.The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness.Tbl3 regulates cell cycle length during zebrafish development.GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.Glaucoma: genes, phenotypes, and new directions for therapy.Repeated measures of intraocular pressure result in higher heritability and greater power in genetic linkage studies.Differential effects of caveolin-1 and -2 knockdown on aqueous outflow and altered extracellular matrix turnover in caveolin-silenced trabecular meshwork cells.Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses When ribosomes go bad: diseases of ribosome biogenesis.Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

P2860

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P2860

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

http://www.wikidata.org/entity/Q34389060

description

2005 nî lūn-bûn

@nan

2005 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի հունվարին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

@ast

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

@en

Identification of a novel adult-onset primary open-angle glaucoma

@nl

type

label

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

@ast

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

@en

Identification of a novel adult-onset primary open-angle glaucoma

@nl

prefLabel

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

@ast

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

@en

Identification of a novel adult-onset primary open-angle glaucoma

@nl

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Human Molecular Genetics

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Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

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P2093

Alexander DaSilva

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Anne Child

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Elena Ilitchev

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George Spaeth

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Jeffrey Liebmann

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Mansoor Sarfarazi

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Robert Ritch

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Ronald Pitts Crick

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Samuel Popinchalk

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Sharareh Monemi

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10.1093/HMG/DDI068

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14

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15677485

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