The genetics of primary open-angle glaucoma: a review (Q37343118)

19 August 2017

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title

The genetics of primary open-angle glaucoma: a review (English)

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19 August 2017

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R Rand Allingham

1

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PubMed ID

19061886

19 August 2017

Yutao Liu

series ordinal

2

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PubMed ID

19061886

19 August 2017

Douglas J Rhee

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3

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19 August 2017

14 November 2008

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Experimental Eye Research

19 August 2017

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19 August 2017

88

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19 August 2017

4

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19 August 2017

837-844

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

19 August 2017

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12 December 2020

Perfusion of his-tagged eukaryotic myocilin increases outflow resistance in human anterior segments in the presence of aqueous humor.

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12 December 2020

Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.

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12 December 2020

Transgenic studies on the role of optineurin in the mouse eye.

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12 December 2020

Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma.

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12 December 2020

Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing

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12 December 2020

Merging and emerging cohorts: necessary but not sufficient

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12 December 2020

The apolipoprotein E gene polymorphism is associated with open angle glaucoma in the Japanese population

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12 December 2020

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

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12 December 2020

A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region

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12 December 2020

Complex genetics of complex traits: the case of primary open-angle glaucoma

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12 December 2020

A genome-wide scan maps a novel autosomal dominant juvenile-onset open-angle glaucoma locus to 2p15-16

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12 December 2020

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

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12 December 2020

Association of Toll-like receptor 4 gene polymorphisms with normal tension glaucoma.

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12 December 2020

Association of interleukin 1beta and receptor antagonist gene polymorphisms with primary open-angle glaucoma.

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12 December 2020

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma

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12 December 2020

Glaucoma screening: the value is in the details

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12 December 2020

Absence of myocilin and optineurin mutations in a large Philippine family with juvenile onset primary open angle glaucoma.

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12 December 2020

Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese

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12 December 2020

Variations on a theme: cataloging human DNA sequence variation

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12 December 2020

Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma

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12 December 2020

Prevalence and predictors of open-angle glaucoma: results from the visual impairment project

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12 December 2020

GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36

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12 December 2020

Variation in optineurin (OPTN) allele frequencies between and within populations

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12 December 2020

Number of people with glaucoma worldwide

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12 December 2020

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

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12 December 2020

Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma

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12 December 2020

Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra- hydrofolate reductase gene polymorphisms and normal-tension glaucoma

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12 December 2020

Exosomes: endosomal-derived vesicles shipping extracellular messages

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12 December 2020

Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.

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12 December 2020

Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians

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12 December 2020

A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.

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12 December 2020

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

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12 December 2020

A codon 31ser-arg polymorphism of the WAF-1/CIP-1/p21/tumour suppressor gene in Chinese primary open-angle glaucoma

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12 December 2020

Searching for genetic determinants in the new millennium

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12 December 2020

Extracellular trafficking of myocilin in human trabecular meshwork cells

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12 December 2020

A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant

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12 December 2020

Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma

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12 December 2020

The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway

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12 December 2020

Paraoxonase 1 gene polymorphisms influence clinical features of open-angle glaucoma

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12 December 2020

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

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12 December 2020

Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases

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12 December 2020

Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region

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12 December 2020

The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study.

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12 December 2020

Community screening for eye disease by laypersons: the Hoffberger program.

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12 December 2020

Expression of mutated mouse myocilin induces open-angle glaucoma in transgenic mice.

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12 December 2020

Association of apolipoprotein E polymorphisms with normal tension glaucoma in a Chinese population.

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12 December 2020

Association between open-angle glaucoma and gene polymorphism for heat-shock protein 70-1

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12 December 2020

Genetic etiologies of glaucoma

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12 December 2020

Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP

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12 December 2020

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

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12 December 2020

Genetic dissection of complex traits

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12 December 2020

The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene

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12 December 2020

Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product

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12 December 2020

Different optineurin mutation pattern in primary open-angle glaucoma

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12 December 2020

Genomewide scan and fine mapping of quantitative trait loci for intraocular pressure on 5q and 14q in West Africans.

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12 December 2020

Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

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12 December 2020

Identification of a gene that causes primary open angle glaucoma.

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12 December 2020

A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q

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12 December 2020

Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene

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12 December 2020

A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12.

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12 December 2020

Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma

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12 December 2020

SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma

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12 December 2020

Recombinant TIGR/MYOC increases outflow resistance in the human anterior segment.

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12 December 2020

Glutathione S transferase M1 and T1 genetic polymorphisms are related to the risk of primary open-angle glaucoma: a study in a Turkish population.

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12 December 2020

A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation

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12 December 2020

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma

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12 December 2020

A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases

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12 December 2020

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma.

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12 December 2020

Evidence for a novel glaucoma locus at chromosome 3p21-22

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12 December 2020

Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population

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12 December 2020

Genetic ophthalmology and the era of clinical care

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12 December 2020

Genetic Risk of Primary Open-angle Glaucoma

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12 December 2020

Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study.

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12 December 2020

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

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12 December 2020

The future of genetic studies of complex human diseases

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12 December 2020

Transporter associated with antigen processing gene 1 codon 333 and codon 637 polymorphisms are associated with primary open-angle glaucoma

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12 December 2020

Protein expression, genomic structure, and polymorphisms of oculomedin

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12 December 2020

Mutations in MYOC gene of Indian primary open angle glaucoma patients.

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12 December 2020

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

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12 December 2020

Genetic and environmental risk factors for primary open-angle glaucoma

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12 December 2020

The prevalence of glaucoma in the Melbourne Visual Impairment Project.

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12 December 2020

Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India

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12 December 2020

Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls.

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12 December 2020

Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study

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12 December 2020

Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure

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12 December 2020

Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma.

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12 December 2020

Association of E-cadherin gene 3'-UTR C/T polymorphism with primary open angle glaucoma

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12 December 2020

Insulin‐like growth factor‐II gene polymorphism is associated with primary open angle glaucoma

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12 December 2020

Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation

1 reference

12 December 2020

1 reference

12 December 2020

A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q

1 reference

12 December 2020

Role of CYP1B1 in glaucoma

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12 December 2020

Global data on visual impairment in the year 2002

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12 December 2020

Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population

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12 December 2020

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

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12 December 2020

The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study.

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12 December 2020

Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the Rotterdam Study.

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12 December 2020

Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region

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12 December 2020

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

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12 December 2020

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

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12 December 2020

Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension

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12 December 2020

Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma.

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12 December 2020

Disease severity of familial glaucoma compared with sporadic glaucoma.

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12 December 2020

Cerebrospinal fluid pressure is decreased in primary open-angle glaucoma

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12 December 2020

Evidence for association of endothelial nitric oxide synthase gene in subjects with glaucoma and a history of migraine.

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12 December 2020

Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain

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12 December 2020

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

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12 December 2020

Glutathione S-transferase M1 and T1 polymorphisms in Arab glaucoma patients.

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12 December 2020

Myocilin and glaucoma: A TIGR by the tail?

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12 December 2020

Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey

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12 December 2020

Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

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12 December 2020

Copy-number variation and association studies of human disease

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12 December 2020

The genome gets personal--almost

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12 December 2020

The role of the Met98Lys optineurin variant in inherited optic nerve diseases

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12 December 2020

Association of tumour necrosis factor alpha -308 gene polymorphism with primary open-angle glaucoma in Chinese.

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12 December 2020

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

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12 December 2020

Association study of the 5' flanking regions of endothelial-nitric oxide synthase and endothelin-1 genes in familial primary open-angle glaucoma

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12 December 2020

Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients

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12 December 2020

Screening for glaucoma in Canada: a systematic review of the literature

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12 December 2020

No Association Between Variations in the WDR36 Gene and Primary Open-Angle Glaucoma

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12 December 2020

Phenotypic plasticity and the epigenetics of human disease

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12 December 2020

Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus

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12 December 2020

Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene

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12 December 2020

Association between glaucoma and gene polymorphism of endothelin type A receptor

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12 December 2020

Polymorphism in the IL-1alpha (-889) locus associated with elevated risk of primary open angle glaucoma.

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12 December 2020

A Genetic Contribution to Intraocular Pressure: The Beaver Dam Eye Study

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12 December 2020

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

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12 December 2020

The atrial natriuretic peptide gene in patients with familial primary open-angle glaucoma

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12 December 2020

C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma

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12 December 2020

The role of the WDR36 gene on chromosome 5q22.1 in a large family with primary open-angle glaucoma mapped to this region

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12 December 2020

Merging and emerging cohorts: Not worth the wait

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12 December 2020

Distributions of p53 codon 72 polymorphism in primary open angle glaucoma

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12 December 2020

OPTN gene: profile of patients with glaucoma from India

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12 December 2020

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma

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12 December 2020

Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients.

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12 December 2020

Letting the genome out of the bottle--will we get our wish?

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12 December 2020

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

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12 December 2020

Gene mapping for primary open angle glaucoma

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12 December 2020

Complex genetics of glaucoma susceptibility

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12 December 2020

Admixture mapping and the role of population structure for localizing disease genes

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12 December 2020

Profiling of WDR36 missense variants in German patients with glaucoma

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12 December 2020

The apolipoprotein epsilon4 gene is associated with elevated risk of normal tension glaucoma.

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12 December 2020

10.1016/J.EXER.2008.11.003

Identifiers

DOI

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19 August 2017

0 references

1 reference

PubMed ID

19061886