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
Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.
Ng TK et al.
Biomolecules, 2023
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
Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
Xie JJ et al.
Ophthalmic Genetics, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.
Zhou B et al.
Frontiers in Genetics, 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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 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
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
A Novel Luciferase Assay For Sensitively Monitoring Myocilin Variants in Cell Culture.
Zadoo S et al.
Investigative Ophthalmology & Visual Science, 2016
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.
Wang F et al.
International Journal of Molecular Medicine, 2015
Structural basis for misfolding in myocilin-associated glaucoma.
Donegan RK et al.
Human Molecular Genetics, 2015
Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.
Souzeau E et al.
Ophthalmology, 2013
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
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
[Current status of genome research on open-angle glaucoma in Finland].
Forsman E et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2011
Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.
Zhao X et al.
Molecular Vision, 2010
[Gene screening as the forewarning measure to predict glaucoma].
Wei YT et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.
Jia LY et al.
Molecular Vision, 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
Gillies lecture: dissecting glaucoma: understanding the molecular risk factors.
Mackey DA
Clinical & Experimental Ophthalmology, 2008
Myocilin allele-specific glaucoma phenotype database.
Hewitt AW et al.
Human Mutation, 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
The optic nerve head in myocilin glaucoma.
Hewitt AW et al.
Investigative Ophthalmology & Visual Science, 2007
Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.
Hewitt AW et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 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
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
[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
Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma.
Puska P et al.
Ophthalmic Genetics, 2005
Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.
Willoughby CE et al.
Investigative Ophthalmology & Visual Science, 2004
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
A multidomain TIGR/olfactomedin protein family with conserved structural similarity in the N-terminal region and conserved motifs in the C-terminal region.
Green ML et al.
Molecular & Cellular Proteomics : Mcp, 2002
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
Vincent AL et al.
American Journal of Human Genetics, 2002
Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.
Cobb CJ et al.
The British Journal of Ophthalmology, 2002
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
Genetic screening in a large family with juvenile onset primary open angle glaucoma.
Booth AP et al.
The British Journal of Ophthalmology, 2000