ArticleJournal of medical genetics1998
A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 48 citations in OpenAlex.
- Calcium dysregulation potentiates wild-type myocilin misfolding: implications for glaucoma pathogenesis.Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2022Article
- Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.Human mutation · 2021Review
- Mendelian genes in primary open angle glaucoma.Experimental eye research · 2019Review
- A role for myocilin in receptor-mediated endocytosis.PloS one · 2013Article
- A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.Molecular vision · 2012Article
- Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones.ACS chemical biology · 2010Article
- New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family.Molecular biology reports · 2010Article
- Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.Molecular vision · 2009Article
- Glaucoma genetics.International ophthalmology clinics · 2008Review
- Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.Molecular vision · 2008Article
- Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.American journal of ophthalmology · 2007Article
- Juvenile-onset open-angle glaucoma - A clinical and genetic update.Survey of ophthalmologyReview
- Prevalence of Myocilin Mutations in a Cohort of Patients with Juvenile Open-Angle Glaucoma from sub-Saharan Africa.Ophthalmology. GlaucomaArticle
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Glaucoma describes a clinically and genetically heterogeneous group of diseases that result in optic neuropathy and progressive loss of visual fields. A gene for juvenile onset primary open angle glaucoma JOAG) has recently been mapped to 1q21-31. Mutations in the trabecular meshwork induced glucocorticoid response gene (TIGR, also known as myocilin or the GLC1A locus) have been found to cause both juvenile and later onset primary open angle glaucoma. Family TCD-POAG1 is a Spanish kindred, which segregates JOAG in an autosomal dominant fashion. This family was found to be linked to the previously identified GLC1A locus on chromosome 1q. Direct sequencing of the TIGR/myocilin gene showed a heterozygous A to C transition in codon 380, resulting in the substitution of alanine for aspartic acid (Asp380Ala). This substitution created a StyI restriction site, which segregated with the JOAG phenotype and permitted rapid screening of all members of the family. This restriction site was not present in 60 controls.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.