A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia

Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disorder characterized by ultrastructural defects in the cilia or flagella of cells, causing respiratory abnormalities, sinusitis, visceral transposition, and male infertility. DNAAF3 plays an important role in the assembly and trans...

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Veröffentlicht in:	Journal of cellular and molecular medicine 2024-09, Vol.28 (18), p.e70092-n/a
Hauptverfasser:	Chen, Dongjia, Fan, Guoqing, Xu, Yan, Luo, Peng, Chen, Qinyun, Chen, Xuren, Guo, Zexin, Zhu, Xianqing, Gao, Yong
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Animal models Animals asthenozoospermia Asthenozoospermia - genetics Asthenozoospermia - pathology Bronchitis Cilia Ciliary Motility Disorders - genetics CRISPR DNAAF3 Dynein Dyskinesia Exome Sequencing Flagella Genetic disorders Genotype & phenotype Hereditary diseases Homozygote Hospitals Humans Hydrocephalus Infertility Infertility, Male - genetics Laboratory animals Male male infertility Mice Mice, Inbred C57BL Morphology Motility murine model Mutation Mutation - genetics Original PCD Primary ciliary dyskinesia Radiation Sinusitis Sperm teratospermia Teratozoospermia - genetics Transposition Whole genome sequencing
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