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Article

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.

Human molecular genetics - 1 Jul 2008

Tayeh Marwan K, Yen Hsan-Jan, Beck John S, Searby Charles C, Westfall Trudi A, Griesbach Hilary, Sheffield Val C, Slusarski Diane C

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a pleiotropic, genetically heterogeneous disorder characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, as well as hypertension and diabetes. Multiple genes are known to independently cause BBS. These genes do not appear to code for the same functional category of proteins; yet, mutation of each results in a similar phenotype. Gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18381349
DOI: 10.1093/hmg/ddn093
PMCID: PMC2900902

Genes

SHH

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.

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Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.PMID 18381349Read ↗

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BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.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 ↗

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.Semantic proximity Read ↗

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

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

Exploring the molecular basis of Bardet-Biedl syndrome.Semantic proximity Read ↗

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