Homozygous mutation in DNAAF4 causes primary ciliary dyskinesia in a Chinese family
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DOI: 10.3389/fgene.2022.1087818
Abstract: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder that affects the structure and function of motile cilia, leading to classic clinical phenotypes, such as situs inversus, chronic sinusitis, bronchiectasis, repeated pneumonia and infertility.… read more here.
Keywords: dnaaf4; primary ciliary; mutation dnaaf4; ciliary dyskinesia ... See more keywords
Strongly Truncated Dnaaf4 Plays a Conserved Role in Drosophila Ciliary Dynein Assembly as Part of an R2TP-Like Co-Chaperone Complex With Dnaaf6
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DOI: 10.3389/fgene.2022.943197
Abstract: Axonemal dynein motors are large multi-subunit complexes that drive ciliary movement. Cytoplasmic assembly of these motor complexes involves several co-chaperones, some of which are related to the R2TP co-chaperone complex. Mutations of these genes in… read more here.
Keywords: dnaaf6; dnaaf4; r2tp like; drosophila ... See more keywords