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Article

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

Human molecular genetics - 26 Apr 2021

Bentley-Ford Melissa R, Engle Staci E, Clearman Kelsey R, Haycraft Courtney J, Andersen Reagan S, Croyle Mandy J, Rains Addison B, Berbari Nicolas F, Yoder Bradley K

Abstract excerpt

Primary cilia are critical sensory and signaling compartments present on most mammalian cell types. These specialized structures require a unique signaling protein composition relative to the rest of the cell to carry out their functions. Defects in ciliary structure and signaling result in a broad group of disorders collectively known as ciliopathies. One ciliopathy, Bardet-Biedl syndrome (BBS; OMIM 209900),...

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Source

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Identifiers

PMID: 33560420
DOI: 10.1093/hmg/ddab039
PMCID: PMC8355464

Genes

BBS5

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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A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.PMID 33560420Read ↗

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