The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes

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...

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Detalles Bibliográficos
Autores principales: Horani, Amjad, Gupta, Deepesh Kumar, Xu, Jian, Xu, Huihui, del Carmen Puga-Molina, Lis, 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393236/
https://www.ncbi.nlm.nih.gov/pubmed/37104040
http://dx.doi.org/10.1172/jci.insight.168836

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