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Article

Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.

Frontiers of medicine - 1 Dec 2023

Zhao Xinyue, Ge Haijun, Xu Wenshuai, Cheng Chongsheng, Zhou Wangji, Xu Yan, Fan Junping, Liu Yaping, Tian Xinlun, Xu Kai-Feng, Zhang Xue

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. FAP54, the homolog of CFAP54 in Chlamydomonas reinhardtii, was previously demonstrated as the C1d projection of the central microtubule apparatus of flagella. A Cfap54 knockout mouse model was then reported to have PCD-relevant phenotypes. Through whole-exome sequencing, compound heterozygous variants c.2649_2657delinC (p....

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PMID: 37725231
DOI: 10.1007/s11684-023-0997-7

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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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Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.PMID 37725231Read ↗

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