Associated Papers
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family.
Kader MA et al.
Journal of Glaucoma, 2024
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Analysis of SMOC2 gene variants in familial and non-familial primary open angle glaucoma Pakistani patients.
Narsani AK et al.
International Journal of Ophthalmology, 2024
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 2023
Molecular genetics of primary open-angle glaucoma.
Yadav M et al.
Indian Journal of Ophthalmology, 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
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 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
A Simple Secretion Assay for Assessing New and Existing Myocilin Variants.
Nakahara E et al.
Current Eye Research, 2022
Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
Xie JJ et al.
Ophthalmic Genetics, 2022
PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE.
Vergaro A et al.
Ceska a Slovenska Oftalmologie : Casopis Ceske Oftalmologicke Spolecnosti a Slovenske Oftalmologicke Spolecnosti, 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
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
Exploiting the interaction between Grp94 and aggregated myocilin to treat glaucoma.
Stothert AR et al.
Human Molecular Genetics, 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
The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.
Donegan RK 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
Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.
Young TK 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
Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.
Rose R et al.
Molecular Vision, 2011
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
Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.
Jia LY et al.
Investigative Ophthalmology & Visual Science, 2009
Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation.
Iliev ME et al.
Eye (london, England), 2008
Myocilin allele-specific glaucoma phenotype database.
Hewitt AW et al.
Human Mutation, 2008
Temperature sensitive secretion of mutant myocilins.
Vollrath D et al.
Experimental Eye Research, 2006
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
Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the Rotterdam Study.
Hulsman CA et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2002
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
Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.
Colomb E et al.
Clinical Genetics, 2001
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.
Fingert JH et al.
Investigative Ophthalmology & Visual Science, 2001
Genetic screening in a large family with juvenile onset primary open angle glaucoma.
Booth AP et al.
The British Journal of Ophthalmology, 2000
Novel mutation in the MYOC gene in primary open glaucoma patients.
Vasconcellos JP et al.
Journal of Medical Genetics, 2000
Childhood-onset primary open angle glaucoma in a Canadian kindred: clinical and molecular genetic features.
Damji KF et al.
Ophthalmic Genetics, 1999
A cellular assay distinguishes normal and mutant TIGR/myocilin protein.
Zhou Z et al.
Human Molecular Genetics, 1999
Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France.
Brézin AP et al.
American Journal of Medical Genetics, 1998
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma.
Adam MF et al.
Human Molecular Genetics, 1997
Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent.
Guevara-Fujita ML et al.
Journal of Glaucoma, 0
Juvenile-onset open-angle glaucoma - A clinical and genetic update.
Selvan H et al.
Survey of Ophthalmology, 0