Variation in optineurin (OPTN) allele frequencies between and within populations (Q36869332)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17293779 AND SRC:MED&resulttype=core&format=json

25 December 2019

title

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

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25 December 2019

19

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25 December 2019

author name string

Rosa M Ayala-Lugo

1

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25 December 2019

Hemant Pawar

2

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25 December 2019

David M Reed

3

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25 December 2019

Paul R Lichter

4

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25 December 2019

Sayoko E Moroi

5

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25 December 2019

Michael Page

6

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25 December 2019

James Eadie

7

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25 December 2019

Veronica Azocar

8

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25 December 2019

Eugenio Maul

9

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25 December 2019

Christine Ntim-Amponsah

10

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25 December 2019

William Bromley

11

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25 December 2019

Ebenezer Obeng-Nyarkoh

12

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25 December 2019

A Tim Johnson

13

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25 December 2019

Theresa Guckian Kijek

14

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25 December 2019

Catherine A Downs

15

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25 December 2019

Jenae M Johnson

16

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25 December 2019

Rodolfo A Perez-Grossmann

17

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25 December 2019

Maria-Luisa Guevara-Fujita

18

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25 December 2019

Margaret R Wallace

20

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25 December 2019

Julia E Richards

21

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25 December 2019

Ayala-Hugo, R.M.

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Pawar, H.

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Reed, D.M.

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Lichter, P.R.

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Moroi, S.E. et.al.

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publication date

2 February 2007

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25 December 2019

2007

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published in

Molecular Vision

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25 December 2019

volume

13

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25 December 2019

page(s)

151-163

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http://ugspace.ug.edu.gh/handle/123456789/29014

25 December 2019

exact match

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

Complex genetics of glaucoma susceptibility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

Different optineurin mutation pattern in primary open-angle glaucoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

Localization of the Fourth Locus (GLC1E) For Adult-Onset Primary Open-Angle Glaucoma to the 10p15-p14 Region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

Number of people with glaucoma worldwide

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

A prospective study of ocular abnormalities in hearing impaired and deaf students

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

[Study on the optic neuropathy induced response protein gene mutation in Chinese patients with primary open-angle glaucoma].

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533035

The relationship between measles and myopia

4 September 2018

1 reference

12 December 2020

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

1 reference

12 December 2020

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

1 reference

12 December 2020

OPTN gene: profile of patients with glaucoma from India

1 reference

12 December 2020

[Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma]

1 reference

12 December 2020