Article
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
JCI insight - 8 Jun 2023
Horani Amjad, Gupta Deepesh Kumar, Xu Jian, Xu Huihui, Carmen Puga-Molina Lis Del, Santi Celia M, Ramagiri Sruthi, Brennan Steven K, Pan Jiehong, Koenitzer Jeffrey R, Huang Tao, Hyland Rachael M, Gunsten Sean P, Tzeng Shin-Cheng, Strahle Jennifer M, Mill Pleasantine, Mahjoub Moe R, Dutcher Susan K, Brody Steven L
Abstract excerpt
DNAAF5 is a dynein motor assembly factor associated with the autosomal heterogenic recessive condition of motile cilia, primary ciliary dyskinesia (PCD). The effects of allele heterozygosity on motile cilia function are unknown. We used CRISPR-Cas9 genome editing in mice to recreate a human missense variant identified in patients with mild PCD and a second, frameshift-null deletion in Dnaaf5. Litters with Dnaaf5...
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