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Article

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

Human molecular genetics - 1 May 2012

Zhang Qihong, Seo Seongjin, Bugge Kevin, Stone Edwin M, Sheffield Val C

Abstract excerpt

There are numerous genes for which loss-of-function mutations do not produce apparent phenotypes even though statistically significant quantitative changes to biological pathways are observed. To evaluate the biological meaning of small effects is challenging. Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by obesity, retinopathy, polydactyly, renal malformations,...

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Identifiers

PMID: 22228099
DOI: 10.1093/hmg/dds004
PMCID: PMC3315203

Genes

SHH

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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.

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BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.PMID 22228099Read ↗

Exome sequencing identifies mutations in <i>LZTFL1</i>, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactylySemantic proximity Read ↗

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.Semantic proximity Read ↗

De-suppression of mesenchymal cell identities and variable phenotypic outcomes associated with knockout of <i>Bbs1</i>Semantic proximity Read ↗

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

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

A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.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 ↗

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.Semantic proximity Read ↗

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.Semantic proximity Read ↗

A <i>Bbs5</i> mouse model reveals pituitary cilia contributions to developmental abnormalitiesSemantic proximity Read ↗

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.Semantic proximity Read ↗

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.Semantic proximity Read ↗

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