Associated Papers
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
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.
Zhou B et al.
Frontiers in Genetics, 2022
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells.
Yan X et al.
Molecular Vision, 2020
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
Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cells.
Lynch JM et al.
The Journal of Biological Chemistry, 2018
Structure and Misfolding of the Flexible Tripartite Coiled-Coil Domain of Glaucoma-Associated Myocilin.
Hill SE et al.
Structure (london, England : 1993), 2017
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.
Young TK et al.
Molecular Vision, 2012
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
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