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
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
MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal.
Silva F et al.
Acta Medica Portuguesa, 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
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.
O'Gorman L et al.
Scientific Reports, 2019
Structural basis for misfolding in myocilin-associated glaucoma.
Donegan RK et al.
Human Molecular Genetics, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
The glaucoma-associated olfactomedin domain of myocilin forms polymorphic fibrils that are constrained by partial unfolding and peptide sequence.
Hill SE et al.
Journal of Molecular Biology, 2014
Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.
Liu W 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
The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.
Burns JN et al.
Biochemistry, 2011
Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.
McDonald KK et al.
Journal of Human Genetics, 2010
Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation.
Iliev ME et al.
Eye (london, England), 2008
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.
Lopez-Martinez F 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 large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability.
Petersen MB et al.
Investigative Ophthalmology & Visual Science, 2006
Identification of flotillin-1 as a protein interacting with myocilin: implications for the pathogenesis of primary open-angle glaucoma.
Joe MK et al.
Biochemical and Biophysical Research Communications, 2005
[Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma].
Rakhmanov VV et al.
Genetika, 2005
Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.
Willoughby CE et al.
Investigative Ophthalmology & Visual Science, 2004
The dawn of genetic testing for glaucoma.
Cohen CS et al.
Current Opinion in Ophthalmology, 2004
Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.
Melki R et al.
Human Mutation, 2003
Founder TIGR/myocilin mutations for glaucoma in the Québec population.
Faucher M et al.
Human Molecular Genetics, 2002
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
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
Vincent AL et al.
American Journal of Human Genetics, 2002
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.
Jacobson N et al.
Human Molecular Genetics, 2001
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.
Shimizu S et al.
American Journal of Ophthalmology, 2000
Mutations in the third exon of the MYOC gene in spanish patients with primary open angle glaucoma.
Vázquez CM et al.
Ophthalmic Genetics, 2000
A cellular assay distinguishes normal and mutant TIGR/myocilin protein.
Zhou Z et al.
Human Molecular Genetics, 1999
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Fingert JH et al.
Human Molecular Genetics, 1999
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
Alward WL et al.
The New England Journal of Medicine, 1998
Variants of the myocilin gene in Japanese patients with normal-tension glaucoma.
Izumi K et al.
Ophthalmic Research, 0
Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene.
Povoa CA et al.
Arquivos Brasileiros De Oftalmologia, 0
Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.
Patel HY et al.
Clinical & Experimental Ophthalmology, 0
The genetics of pigment dispersion syndrome and pigmentary glaucoma.
Lascaratos G et al.
Survey of Ophthalmology, 0
Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.
Li X et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0