Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation

scientific article published on 13 September 2020

Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.YGENO.2020.09.013
P698PubMed publication ID32937162

P2093author name stringYing Chen
Na Li
Hui Xu
Hong Lu
Yanan Kong
Shuqiang Zhang
Xingxing Liu
P2860cites workHeterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucomaQ24657994
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Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucomaQ33681656
Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of FunctionQ34012751
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Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.Q35187142
A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humorQ36901991
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Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucomaQ37527287
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Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cellsQ38518594
How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in TasmaniaQ40137352
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Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humorQ40832933
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucomaQ42634618
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucomaQ42665063
Extracellular trafficking of myocilin in human trabecular meshwork cellsQ46535311
Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma.Q53911831
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)Q53956831
Primary open-angle glaucomaQ57728691
Glaucoma Pred: Glaucoma prediction based on Myocilin genotype and phenotype informationQ64125124
Genetic Risk of Primary Open-angle GlaucomaQ64461582
Primary open-angle glaucomaQ80122027
What We Have Learned From the Ocular Hypertension Treatment StudyQ87947448
P577publication date2020-09-13
P1433published inGenomicsQ5533503
P1476titleGlaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation

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