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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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  Data: CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.
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  Data: <searchLink fieldCode="AU" term="%22Yin+HY%22">Yin HY</searchLink>; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.<br /><searchLink fieldCode="AU" term="%22Zhou+YQ%22">Zhou YQ</searchLink>; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.<br /><searchLink fieldCode="AU" term="%22Shen+QS%22">Shen QS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chen+ZW%22">Chen ZW</searchLink>; The Second Affiliated Hospital of Anhui Medical University, Hefei 230032, China.<br /><searchLink fieldCode="AU" term="%22Li+JR%22">Li JR</searchLink>; The Second School of Clinical Medicine, Anhui Medical University, Hefei 230032, China.<br /><searchLink fieldCode="AU" term="%22Wu+H%22">Wu H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cao+YX%22">Cao YX</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Guo+R%22">Guo R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Song+B%22">Song B</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22100942132%22">Asian journal of andrology</searchLink> [Asian J Androl] 2025 Nov 01; Vol. 27 (6), pp. 743-750. <i>Date of Electronic Publication: </i>2025 Sep 02.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Shanghai+Materia+Medica%22">Shanghai Materia Medica </searchLink><i>Country of Publication: </i>China <i>NLM ID: </i>100942132 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1745-7262 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221008682X%22">1008682X </searchLink><i>NLM ISO Abbreviation: </i>Asian J Androl <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.4103/aja202556
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      – Code: eng
        Text: English
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      – TitleFull: CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.
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            NameFull: Yin HY
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            NameFull: Zhou YQ
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            NameFull: Chen ZW
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            – D: 01
              M: 11
              Text: 2025 Nov 01
              Type: published
              Y: 2025
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              Value: 27
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              Value: 6
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            – TitleFull: Asian journal of andrology
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