GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.

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Article

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.

Molecular vision - 6 Oct 1998

Rozsa F W, Shimizu S, Lichter P R, Johnson A T, Othman M I, Scott K, Downs C A, Nguyen T D, Polansky J, Richards J E

Abstract excerpt

PURPOSE: The aim of this study was to screen affected members of glaucoma families for mutations in the Trabecular Meshwork Inducible Glucocorticoid Response (TIGR) gene also known by the name myocilin (MYOC) or by combined names such as TIGR/MYOC. Our primary objectives were (1) to identify muta...

Topics

Adult
Aged
Aged, 80 and over
Amino Acid Sequence
Base Sequence
Cytoskeletal Proteins
Extracellular Matrix Proteins
Eye Proteins
Female
Genetic Linkage
Glaucoma, Open-Angle
Glycoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Middle Aged

Models, Molecular

Molecular Sequence Data

Mutation

Source

Open in PubMed

Identifiers

PMID: 9772276

Genes

MYOC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9772276-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.PMID 9772276Read ↗

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.Semantic proximity Read ↗

Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle GlaucomaSemantic proximity Read ↗

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.Semantic proximity Read ↗

Clinical phenotype of a Japanese family with primary open angle glaucoma caused by a Pro370Leu mutation in the MYOC/TIGR gene.Semantic proximity Read ↗

A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein.Semantic proximity Read ↗

Keeping an Eye on Myocilin: A Complex Molecule Associated with Primary Open-Angle Glaucoma SusceptibilitySemantic proximity Read ↗

Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.Semantic proximity Read ↗

Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.Semantic proximity Read ↗

[Study on MYOC/TIGR gene mutations in primary open-angle glaucoma].Semantic proximity Read ↗

Targeted Disruption of the Myocilin Gene (<i>Myoc</i>) Suggests that Human Glaucoma-Causing Mutations Are Gain of FunctionSemantic proximity Read ↗

A trabecular meshwork glucocorticoid response (TIGR) gene mutation affects translocational processing.Semantic proximity Read ↗

Recent advances in molecular genetics of glaucomasSemantic proximity Read ↗

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