CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.

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Title: CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.
Authors: Yin HY; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China., Zhou YQ; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China., Shen QS; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei 230032, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei 230032, China., Chen ZW; The Second Affiliated Hospital of Anhui Medical University, Hefei 230032, China., Li JR; The Second School of Clinical Medicine, Anhui Medical University, Hefei 230032, China., Wu H; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei 230032, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei 230032, China., Cao YX; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei 230032, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei 230032, China., Guo R; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei 230032, China., Song B; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei 230032, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei 230032, China.
Source: Asian journal of andrology [Asian J Androl] 2025 Nov 01; Vol. 27 (6), pp. 743-750. Date of Electronic Publication: 2025 Sep 02.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Shanghai Materia Medica Country of Publication: China NLM ID: 100942132 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1745-7262 (Electronic) Linking ISSN: 1008682X NLM ISO Abbreviation: Asian J Androl Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1745-7262
DOI:10.4103/aja202556