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

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

American journal of human genetics - 1 Mar 2003

Badano José L, Ansley Stephen J, Leitch Carmen C, Lewis Richard Alan, Lupski James R, Katsanis Nicholas

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder, the primary features of which include obesity, retinal dystrophy, polydactyly, hypogenitalism, learning difficulties, and renal malformations. Conventional linkage and positional cloning have led to the mapping of six BBS loci in the human genome, four of which (BBS1, BBS2, BBS4, and BBS6) have been cloned. Despite these advances, the protein...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Alternative Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bardet-Biedl Syndrome

Share to Cytoskeletal Proteins

Share to Genes, Recessive

Share to Microtubule-Associated Proteins

Share to Protein Isoforms

Source

Open in PubMed Open full text

Identifiers

PMID: 12567324
DOI: 10.1086/368204
PMCID: PMC1180240

Genes

BBS2
BBS1
BBS7
BBS4

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

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.PMID 12567324Read ↗

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.Semantic proximity Read ↗

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).Semantic proximity Read ↗

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.Semantic proximity Read ↗

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.Semantic proximity Read ↗

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).Semantic proximity Read ↗

Genetics of human Bardet-Biedl syndrome, an updates.Semantic proximity Read ↗

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.Semantic proximity Read ↗

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.Semantic proximity Read ↗

The major gene for Bardet-Biedl syndrome is BBS1.Semantic proximity Read ↗

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.Semantic proximity Read ↗

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.Semantic proximity Read ↗

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.Semantic proximity Read ↗

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