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
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 2023
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP et al.
Human Mutation, 2022
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
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation.
Lu H et al.
Genomics, 2020
A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.
Souzeau E et al.
Bmc Medical Genetics, 2016
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.
Kuchtey J et al.
European Journal of Medical Genetics, 2013
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.
Michels-Rautenstrauss K et al.
Human Mutation, 2002
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