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

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

Genomics - 1 Mar 2003

Johnson Samantha, Halford Stephanie, Morris Alex G, Patel Reshma J, Wilkie Susan E, Hardcastle Alison J, Moore Anthony T, Zhang Kang, Hunt David M

Abstract excerpt

A mutation has been identified in the Rab3A-interacting molecule (RIM1) gene in CORD7, an autosomal dominant cone-rod dystrophy that localises to chromosome 6q14. The G to A point mutation results in an Arg844His substitution in the C(2)A domain of the protein that segregates with disease. This mutation is absent in over 200 control chromosomes, indicating that it is not a common polymorphism, and the almost...

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 DNA Primers

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

Share to Genes, Dominant

Share to Genome

Share to Models, Molecular

Share to Pedigree

Share to Retinitis Pigmentosa

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 12659814
DOI: 10.1016/s0888-7543(03)00010-7

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

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).PMID 12659814Read ↗

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.Semantic proximity Read ↗

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.Semantic proximity Read ↗

Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels.Semantic proximity Read ↗

The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis.Semantic proximity Read ↗

Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.Semantic proximity Read ↗

Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy.Semantic proximity Read ↗

The human cognition-enhancing CORD7 mutation increases active zone number and synaptic release.Semantic proximity Read ↗

Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci.Semantic proximity Read ↗

Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants.Semantic proximity Read ↗

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.Semantic proximity Read ↗

Identification and characterization of a novel RPGR isoform in human retina.Semantic proximity Read ↗

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.Semantic proximity Read ↗

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