A prioritization tool for cilia-associated genes and their in vivo resources unveils new avenues for ciliopathy research.

doi:10.1242/dmm.052000

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Article

A prioritization tool for cilia-associated genes and their in vivo resources unveils new avenues for ciliopathy research.

Disease models & mechanisms - 1 Oct 2024

Van Sciver Robert E, Caspary Tamara

Abstract excerpt

Defects in ciliary signaling or mutations in proteins that localize to primary cilia lead to a class of human diseases known as ciliopathies. Approximately 10% of mammalian genes encode cilia-associated proteins, and a major gap in the cilia research field is knowing which genes to prioritize to study and finding the in vivo vertebrate mutant alleles and reagents available for their study. Here, we present a...

Topics

Cilia
Ciliopathies
Animals
Humans
Zebrafish
Phenotype
Mice
Mutation
Databases, Genetic
Signal Transduction
Hedgehog Proteins
Alleles

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Open in PubMed Open full text

Identifiers

PMID: 39263856
DOI: 10.1242/dmm.052000
PMCID: PMC11512102

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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