Associated Papers
The Genetic Defects of N-DRC in Male Infertility.
Qin J et al.
Clinical Genetics, 2026
A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
Kherraf ZE et al.
Clinical Genetics, 2024
A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.
Artesani MC et al.
Frontiers in Pediatrics, 2024
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Dougherty GW et al.
Nature Communications, 2020
33139725 (PubMed )
Supplement: 41467_2020_19113_MOESM2_ESM.pdf
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
Jeanson L et al.
Human Mutation, 2016
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
Olbrich H et al.
American Journal of Human Genetics, 2015
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