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Article

Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes.

Genetics - 4 Jan 2022

Bentley-Ford Melissa R, LaBonty Melissa, Thomas Holly R, Haycraft Courtney J, Scott Mikyla, LaFayette Cameron, Croyle Mandy J, Andersen Reagan S, Parant John M, Yoder Bradley K

Abstract excerpt

Primary cilia are sensory and signaling hubs with a protein composition that is distinct from the rest of the cell due to the barrier function of the transition zone (TZ) at the base of the cilium. Protein transport across the TZ is mediated in part by the BBSome, and mutations disrupting TZ and BBSome proteins cause human ciliopathy syndromes. Ciliopathies have phenotypic variability even among patients with...

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Identifiers

PMID: 34850872
DOI: 10.1093/genetics/iyab209
PMCID: PMC8733634

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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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