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
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.
Scelsi HF et al.
Disease Models & Mechanisms, 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
Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.
Tanji T et al.
Genes, 2021
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Molecular Insights into Myocilin and Its Glaucoma-Causing Misfolded Olfactomedin Domain Variants.
Lieberman RL et al.
Accounts of Chemical Research, 2021
Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork (Review).
Wang H et al.
International Journal of Molecular Medicine, 2019
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Structural basis for misfolding in myocilin-associated glaucoma.
Donegan RK et al.
Human Molecular Genetics, 2015
The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.
Donegan RK et al.
The Journal of Biological Chemistry, 2012
A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.
Cai SP et al.
Molecular Vision, 2012
The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.
Burns JN et al.
Biochemistry, 2011
Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.
Wei YT et al.
Molecular Vision, 2011
[Gene screening as the forewarning measure to predict glaucoma].
Wei YT et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma].
Dai X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
[Investigation on the mutation of MYOC gene in two family pedigrees with primary open-angle glaucoma in Shanxi].
Qin L et al.
Yan Ke Xue Bao = Eye Science, 2007
Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma.
Zhuo YH et al.
Chinese Medical Journal, 2006
Temperature sensitive secretion of mutant myocilins.
Vollrath D et al.
Experimental Eye Research, 2006
[A preliminary study on gene mutation and its function in a large family (GZ.1 pedigree) with open-angle glaucoma].
Wei YT et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.
Melki R et al.
Human Mutation, 2003
Single-nucleotide polymorphisms and glaucoma severity.
Bunce C et al.
American Journal of Human Genetics, 2003
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.
Fingert JH et al.
Investigative Ophthalmology & Visual Science, 2001
[To screen, clone and sequence TIGR gene mutation in Chinese patients with primary open- angle glaucoma].
Zhuo Y et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2000
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.
Shimizu S et al.
American Journal of Ophthalmology, 2000
Gene mutation in patients with primary open-angle glaucoma in a pedigree in China.
Ge J et al.
Chinese Medical Journal, 2000
The analysis of pedigree GZ (Guangzhou). 1 with primary open angle glaucoma.
Zhuo Y et al.
Yan Ke Xue Bao = Eye Science, 2000