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A novel frameshift variant in AXDND1 may cause multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.

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Title: A novel frameshift variant in AXDND1 may cause multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.
Authors: Ali I; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Yang ML; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Rahim F; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Ali H; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Zeb A; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Ahmad N; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Raza Y; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Yue W; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Shoaib M; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Abbas T; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Shah W; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Ma H; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Zhang H; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China., Yin H; Department of Molecular Biology, Massachusetts General Hospital, Department of Genetics, Harvard Medical School, Boston, MA 02114, USA., Shi QH; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.
Source: Asian journal of andrology [Asian J Androl] 2025 Nov 01; Vol. 27 (6), pp. 691-696. Date of Electronic Publication: 2025 Jun 03.
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: A novel frameshift variant in AXDND1 may cause multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.
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  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Ali+I%22">Ali I</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Yang+ML%22">Yang ML</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Rahim+F%22">Rahim F</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Ali+H%22">Ali H</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Zeb+A%22">Zeb A</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Ahmad+N%22">Ahmad N</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Raza+Y%22">Raza Y</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Yue+W%22">Yue W</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Shoaib+M%22">Shoaib M</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Abbas+T%22">Abbas T</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Shah+W%22">Shah W</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Ma+H%22">Ma H</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Zhang+H%22">Zhang H</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China.<br /><searchLink fieldCode="AU" term="%22Yin+H%22">Yin H</searchLink>; Department of Molecular Biology, Massachusetts General Hospital, Department of Genetics, Harvard Medical School, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Shi+QH%22">Shi QH</searchLink>; Centre for Reproduction and Genetics, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Centre, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, 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. 691-696. <i>Date of Electronic Publication: </i>2025 Jun 03.
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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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        Value: 10.4103/aja202538
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        Text: English
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      – TitleFull: A novel frameshift variant in AXDND1 may cause multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.
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