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
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
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
Mengkegale M et al.
Molecular Vision, 2008
SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.
Funayama T et al.
Investigative Ophthalmology & Visual Science, 2006
[Low penetrance of His26Asp mutation in the optineurin gene in a Japanese family with normal-tension glaucoma].
Yasuda N et al.
Nippon Ganka Gakkai Zasshi, 2006
Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion.
Gobeil S et al.
Experimental Eye Research, 2006
Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.
Ishikawa K et al.
Journal of Glaucoma, 2004
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
Novel mutations in the myocilin gene in Japanese glaucoma patients.
Kubota R et al.
Human Mutation, 2000
Variants of the myocilin gene in Japanese patients with normal-tension glaucoma.
Izumi K et al.
Ophthalmic Research, 0
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