Associated Papers
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1
Rodent genetically modified models of glaucoma.
Loo Y et al.
Molecular Aspects of Medicine, 2024
Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulation.
Yan X et al.
Cell Death Discovery, 2024
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 2023
Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
Xie JJ et al.
Ophthalmic Genetics, 2022
35014583 (PubMed )
Supplement: supplement_1.pdf
Myocilin Gene Mutation Induced Autophagy Activation Causes Dysfunction of Trabecular Meshwork Cells.
Yan X et al.
Frontiers in Cell and Developmental Biology, 2022
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells.
Yan X et al.
Molecular Vision, 2020
Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.
Moon S et al.
International Journal of Ophthalmology, 2020
A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.
Yao YH et al.
International Journal of Ophthalmology, 2018
Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
Yang Y et al.
Gene, 2015
Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.
Wang F et al.
International Journal of Molecular Medicine, 2015
Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.
Wei YT et al.
Molecular Vision, 2011
Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.
Zhao X et al.
Molecular Vision, 2010
Juvenile-onset open-angle glaucoma - A clinical and genetic update.
Selvan H et al.
Survey of Ophthalmology, 0
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