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 GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).

Investigative ophthalmology & visual science - 1 Apr 2005

Sokal Izabela, Dupps William J, Grassi Michael A, Brown Jeremiah, Affatigato Louisa M, Roychowdhury Nirmalya, Yang Lili, Filipek Slawomir, Palczewski Krzysztof, Stone Edwin M, Baehr Wolfgang

Abstract excerpt

PURPOSE: To elucidate the phenotypic and biochemical characteristics of a novel mutation associated with autosomal dominant cone-rod dystrophy (adCORD). METHODS: Twenty-three family members of a CORD pedigree underwent clinical examinations, including visual acuity tests, standardized full-field ERG, and fundus photography. Genomic DNA was screened for mutations in GCAP1 exons using DNA sequencing and...

Read the complete abstract on PubMed

Topics

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

Share to Calcium-Binding Proteins
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Immunoblotting

Share to Photoreceptor Cells, Vertebrate

Share to Polymorphism, Single-Stranded Conformational

Share to Retinal Degeneration

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 15790869
DOI: 10.1167/iovs.04-1431
PMCID: PMC1352313

Genes

ERG

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).PMID 15790869Read ↗

Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).Semantic proximity Read ↗

Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.Semantic proximity Read ↗

A Novel Mutation (I143NT) in Guanylate Cyclase-Activating Protein 1 (GCAP1) Associated with Autosomal Dominant Cone DegenerationSemantic proximity Read ↗

GCAP1 mutations associated with autosomal dominant cone dystrophy.Semantic proximity Read ↗

RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model.Semantic proximity Read ↗

Guanylate cyclase activating proteins, guanylate cyclase and disease.Semantic proximity Read ↗

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.Semantic proximity Read ↗

A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.Semantic proximity Read ↗

Supramolecular complexes of GCAP1: towards the development of effective biologics for inherited retinal dystrophiesSemantic proximity Read ↗

A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.Semantic proximity Read ↗

Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.Semantic proximity Read ↗

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneSemantic proximity Read ↗

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