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

Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.

JAMA ophthalmology - 1 Feb 2020

Mahroo Omar A, Arno Gavin, Ba-Abbad Rola, Downes Susan M, Bird Alan, Webster Andrew R

Abstract excerpt

Importance: As genetic and genomic screening is becoming more widely accessed, correctly distinguishing pathogenic from nonpathogenic variants is of increasing relevance. Objective: To reevaluate a previously reported family in whom the p.(Pro50Leu) variant in the gene GUCA1A was associated with a dominant retinal dystrophy, in light of new examination findings in the proband's daughter. Design, Setting, and...

Read the complete abstract on PubMed

Topics

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

Share to Eye Proteins
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Retinal Dystrophies

Source

Open in PubMed Open full text

Identifiers

PMID: 31804667
DOI: 10.1001/jamaophthalmol.2019.4959
PMCID: PMC6902164

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

Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.PMID 31804667Read ↗

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.Semantic proximity Read ↗

Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.Semantic proximity Read ↗

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal DystrophySemantic proximity Read ↗

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.Semantic proximity Read ↗

Role of <em>GUCA1C </em>in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in ZebrafishSemantic proximity Read ↗

CNGB1-related rod-cone dystrophy: A mutation review and update.Semantic proximity Read ↗

Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.Semantic proximity Read ↗

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.Semantic proximity Read ↗

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

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.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 ↗

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.Semantic proximity Read ↗

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