Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma (Q35032291)

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5 February 2020

title

Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma (English)

1 reference

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5 February 2020

author name string

Yan-Tao Wei

1

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5 February 2020

Yi-Qing Li

2

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5 February 2020

Yu-Jing Bai

3

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5 February 2020

Mei Wang

4

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5 February 2020

Jun-Hong Chen

5

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5 February 2020

Jian Ge

6

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5 February 2020

Ye-Hong Zhuo

7

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5 February 2020

language of work or name

English

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National Center for Biotechnology Information

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4 December 2024

publication date

1 June 2011

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5 February 2020

2011

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National Center for Biotechnology Information

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full work available at URL

4 December 2024

https://europepmc.org/articles/PMC3110496

1 reference

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https://europepmc.org/articles/PMC3110496?pdf=render

4 December 2024

file format

Portable Document Format

online access status

open access

content deliverer

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4 December 2024

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5 February 2020

volume

17

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5 February 2020

page(s)

1449-1456

1 reference

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Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma

5 February 2020

cites work

1 reference

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Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

8 July 2018

1 reference

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Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

Myocilin allele-specific glaucoma phenotype database

8 July 2018

1 reference

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Pro370Leu mutant myocilin disturbs the endoplasm reticulum stress response and mitochondrial membrane potential in human trabecular meshwork cells.

8 July 2018

1 reference

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Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India.

8 July 2018

1 reference

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The number of people with glaucoma worldwide in 2010 and 2020

8 July 2018

1 reference

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Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

8 July 2018

1 reference

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Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

A review of genetic and structural understanding of the role of myocilin in primary open angle glaucoma

8 July 2018

1 reference

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

8 July 2018

1 reference

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Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma

8 July 2018

1 reference

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Genetic dissection of myocilin glaucoma

8 July 2018

1 reference

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Predictive DNA testing for glaucoma: reality in 2003.

8 July 2018

1 reference

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Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

8 July 2018

1 reference

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Expression of wild-type and truncated myocilins in trabecular meshwork cells: their subcellular localizations and cytotoxicities.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

Genetic basis of glaucoma

8 July 2018

1 reference

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

8 July 2018

1 reference

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Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.

8 July 2018

1 reference

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Models of open-angle glaucoma prevalence and incidence in the United States.

8 July 2018

1 reference

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Identification of a gene that causes primary open angle glaucoma.

8 July 2018

1 reference

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Gene screening as the forewarning measure to predict glaucoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

MYOC gene mutations in Spanish patients with autosomal dominant primary open-angle glaucoma: a founder effect in southeast Spain.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene.

25 October 2018

1 reference

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Presymptomatic genetic diagnosis for consulters from a large Chinese family with juvenile open angle glaucoma.

25 October 2018

1 reference

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Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

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

25 October 2018

1 reference

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Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells

25 October 2018

1 reference

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Mutations in the TIGR Gene in Familial Primary Open-Angle Glaucoma in Japan

25 October 2018

1 reference

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110496

9 December 2018

Identifiers

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5 February 2020

1 reference