Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype.

Clinical & experimental ophthalmology - 1 Mar 2009

Sherwin Justin C, Hewitt Alex W, Bennett Sonya L, Baird Paul N, Craig Jamie E, Mackey David A

Abstract excerpt

PURPOSE: Primary open angle glaucoma (POAG) is a complex heterogeneous disease. The aim of this study was to describe the POAG phenotype in individuals who harbour the novel GLC1L disease-associated haplotype in a large pedigree where the Myocilin Gln368STOP mutation also segregates. METHODS: The clinical findings from 24 subjects with POAG from the GTAS02 family recruited as part of the Glaucoma Inheritance...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 3
Share to Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Glaucoma, Open-Angle

Share to Glycoproteins

Share to Haplotypes

Share to Intraocular Pressure

Share to Pedigree

Source

Identifiers

PMID: 19723129
DOI: 10.1111/j.1442-9071.2009.02002.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype.PMID 19723129Read ↗

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.Semantic proximity Read ↗

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)Semantic proximity Read ↗

A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.Semantic proximity Read ↗

Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation.Semantic proximity Read ↗

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.Semantic proximity Read ↗

Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype.Semantic proximity Read ↗

Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma.Semantic proximity Read ↗

Myocilin allele-specific glaucoma phenotype database.Semantic proximity Read ↗

Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.Semantic proximity Read ↗

GLC1F, A New Primary Open-angle Glaucoma Locus, Maps to 7q35-q36Semantic proximity Read ↗

The genetics of open-angle glaucoma: the story of GLC1A and myocilin.Semantic proximity Read ↗

Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.