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

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.

Investigative ophthalmology & visual science - 1 Feb 2005

Richards Allan J, Meredith Sarah, Poulson Arabella, Bearcroft Philip, Crossland Graeme, Baguley David M, Scott John D, Snead Martin P

Abstract excerpt

PURPOSE: To determine the molecular defect in a family with autosomal dominant rhegmatogenous retinal detachment (DRRD), and to investigate missplicing as a possible phenotypic modifier of mutations in COL2A1. METHODS: Clinical examination of the family and linkage analysis using markers flanking COL2A1 and COL11A1, the known loci for Stickler syndrome; mutation screening of COL2A1; construction of splicing...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Collagen Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Genetic Linkage

Share to Retinal Detachment

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Transfection

Source

Identifiers

PMID: 15671297
DOI: 10.1167/iovs.04-1017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.PMID 15671297Read ↗

Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.Semantic proximity Read ↗

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.Semantic proximity Read ↗

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.Semantic proximity Read ↗

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanismsSemantic proximity Read ↗

p53 splice acceptor site mutation and increased HsRAD51 protein expression in Bloom's syndrome GM1492 fibroblasts.Semantic proximity Read ↗

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.Semantic proximity Read ↗

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.Semantic proximity Read ↗

Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe.Semantic proximity Read ↗

Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.Semantic proximity Read ↗

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.Semantic proximity Read ↗

Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.Semantic proximity Read ↗

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