Associated Papers
Disease Modeling of Myocilin Mutation Dependent Normal Tension Glaucoma: Human Retinal Ganglion Cell Susceptibility to UPR and mTOR Signaling.
Shil SK et al.
Stem Cells (dayton, Ohio), 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
A Simple Secretion Assay for Assessing New and Existing Myocilin Variants.
Nakahara E et al.
Current Eye 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
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
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 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
Anticipation, anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation.
Li CM et al.
International Journal of Ophthalmology, 2014
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
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
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.
Lopez-Martinez F et al.
Molecular Vision, 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
Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.
Weisschuh N et al.
Molecular Vision, 2005
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
The dawn of genetic testing for glaucoma.
Cohen CS et al.
Current Opinion in Ophthalmology, 2004
Founder TIGR/myocilin mutations for glaucoma in the Québec population.
Faucher M et al.
Human Molecular Genetics, 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
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.
Fingert JH et al.
Investigative Ophthalmology & Visual Science, 2001
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
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