Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure
Sign Up to like & getrecommendations! Published in 2019 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a004374
Abstract: Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide. Most cases are multifactorial in etiology, but some are associated with variants in the myocilin gene, MYOC. Here, we report the identification of… read more here.
Keywords: family; angle glaucoma; myoc; open angle ... See more keywords
CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma
Sign Up to like & getrecommendations! Published in 2021 at "British Journal of Ophthalmology"
DOI: 10.1136/bjophthalmol-2020-318563
Abstract: Objective To compare CYP1B1 and MYOC variants in a cohort of neonatal-onset (NO) and infantile-onset (IO) primary congenital glaucoma (PCG). Methods This prospective observational study included 43 infants with PCG (14 NO and 29 IO) presenting… read more here.
Keywords: pcg; cyp1b1 myoc; myoc variants; glaucoma ... See more keywords
Mutant myocilin impacts sarcomere ultrastructure in mouse gastrocnemius muscle
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DOI: 10.1371/journal.pone.0206801
Abstract: Myocilin (MYOC) is the gene with mutations most common in glaucoma. In the eye, MYOC is in trabecular meshwork, ciliary body, and retina. Other tissues with high MYOC transcript levels are skeletal muscle and heart.… read more here.
Keywords: gastrocnemius muscle; myocilin; muscle; mutant myoc ... See more keywords
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1019208
Abstract: MYOC is a common pathogenic gene for primary open-angle glaucoma and encodes the protein named myocilin. Multiple MYOC variations have been found, with different clinical significance. However, the pathogenesis of glaucoma induced by MYOC mutations… read more here.
Keywords: structure function; pathogenicity; secretion; analysis ... See more keywords