Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype. (Q36842712)

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12 January 2020

title

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

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12 January 2020

6

H Uri Saragovi

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12 January 2020

author name string

Ye-Hong Zhuo

1

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12 January 2020

Yan-Tao Wei

2

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12 January 2020

Yu-Jing Bai

3

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12 January 2020

Shan Duan

4

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12 January 2020

Ming-Kai Lin

5

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Jian Ge

7

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publication date

22 August 2008

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12 January 2020

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12 January 2020

volume

14

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12 January 2020

page(s)

1533-1539

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

12 January 2020

cites work

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29 September 2017

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

29 September 2017

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Predictive DNA testing for glaucoma: reality in 2003.

29 September 2017

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

29 September 2017

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Genetic basis of glaucoma

29 September 2017

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

29 September 2017

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

29 September 2017

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Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues

29 September 2017

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

29 September 2017

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

29 September 2017

1 reference

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Identification of a gene that causes primary open angle glaucoma.

29 September 2017

1 reference

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

29 September 2017

1 reference

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The optic nerve head in myocilin glaucoma

29 September 2017

1 reference

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

27 June 2018

1 reference

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

27 June 2018

1 reference

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

27 June 2018

1 reference

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

27 June 2018

1 reference

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

27 June 2018

1 reference

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

5 September 2018

1 reference

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Immunohistochemical localization of MYOC/TIGR protein in the trabecular tissue of normal and glaucomatous eyes.

5 September 2018

1 reference

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

5 September 2018

1 reference

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

5 September 2018

1 reference

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

5 September 2018

1 reference

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

5 September 2018

1 reference

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Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan

5 September 2018

1 reference

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

5 September 2018

1 reference

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TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18728751

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

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12 January 2020

PubMed publication ID

18728751

1 reference