Associated Papers
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Genetic Associations of Primary Angle-Closure Disease: A Systematic Review and Meta-Analysis.
Liang YJ et al.
Jama Ophthalmology, 2024
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
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.
Tang J et al.
Genes, 2022
Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing.
Liu TY et al.
Diagnostics (basel, Switzerland), 2022
Prevalence of MYOC risk variants for glaucoma in different populations.
Liuska PJ et al.
Acta Ophthalmologica, 2021
Knockout of myoc Provides Evidence for the Role of Myocilin in Zebrafish Sex Determination Associated with Wnt Signalling Downregulation.
Atienzar-Aroca R et al.
Biology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Evaluation of the association between five genetic variants and primary open-angle glaucoma in a Han Chinese population.
Li K et al.
Ophthalmic Genetics, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.
Liu T et al.
Molecular Vision, 2020
Mendelian genes in primary open angle glaucoma.
Sears NC et al.
Experimental Eye Research, 2019
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.
Fan Q et al.
Bmc Medical Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
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
Genetic variants associated with primary open angle glaucoma in Indian population.
Kumar S et al.
Genomics, 2017
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
Yang Y et al.
Gene, 2015
Evaluation of the Association Between Common Genetic Variants Near the ABCA1 Gene and Primary Angle Closure Glaucoma in a Han Chinese Population.
Luo H et al.
Investigative Ophthalmology & Visual Science, 2015
Deletion of olfactomedin 2 induces changes in the AMPA receptor complex and impairs visual, olfactory, and motor functions in mice.
Sultana A et al.
Experimental Neurology, 2014
Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma.
Mimivati Z et al.
Molecular Vision, 2014
Myocilin interacts with syntrophins and is member of dystrophin-associated protein complex.
Joe MK et al.
The Journal of Biological Chemistry, 2012
Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population.
Mendoza-Reinoso V et al.
Molecular Vision, 2012
Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
Cheng JW et al.
Plos One, 2012
Myocilin, a glaucoma-associated protein, promotes cell migration through activation of integrin-focal adhesion kinase-serine/threonine kinase signaling pathway.
Kwon HS et al.
Journal of Cellular Physiology, 2011
Keeping an eye on myocilin: a complex molecule associated with primary open-angle glaucoma susceptibility.
Menaa F et al.
Molecules (basel, Switzerland), 2011
Myocilin mutations in black South Africans with POAG.
Whigham BT et al.
Molecular Vision, 2011
Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.
Rose R et al.
Molecular Vision, 2011
Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma--a possible role for alternate splicing.
Pandaranayaka PJ et al.
Molecular Vision, 2010
Expression of myocilin mutants sensitizes cells to oxidative stress-induced apoptosis: implication for glaucoma pathogenesis.
Joe MK et al.
The American Journal of Pathology, 2010
New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family.
Qu X et al.
Molecular Biology Reports, 2010
Glaucoma-associated myocilin: a better understanding but much more to learn.
Resch ZT et al.
Experimental Eye Research, 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
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
Xie X et al.
Molecular Vision, 2008
Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.
Wirtz MK et al.
Molecular Vision, 2008
Contributions of MYOC and CYP1B1 mutations to JOAG.
Bayat B et al.
Molecular Vision, 2008
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
Mengkegale M et al.
Molecular Vision, 2008
Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma.
Yen YC et al.
Molecular Vision, 2007
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.
Shepard AR et al.
Human Molecular Genetics, 2007
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 myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases.
Hewitt AW et al.
American Journal of Ophthalmology, 2006
Mutated mouse and human myocilins have similar properties and do not block general secretory pathway.
Malyukova I et al.
Investigative Ophthalmology & Visual Science, 2006
Molecular analysis of the myocilin gene in Chinese subjects with chronic primary-angle closure glaucoma.
Aung T et al.
Investigative Ophthalmology & Visual Science, 2005
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
A review of genetic and structural understanding of the role of myocilin in primary open angle glaucoma.
Kanagavalli J et al.
Indian Journal of Ophthalmology, 2004