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Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

Authors

  • Chunyu Liu Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China PubMed articlesGoogle scholar articles
  • Mingrong Lv Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Xiaojin He Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Yong Zhu Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Amir Amiri-Yekta Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France Centre Hospitalier Universitaire de Grenoble, UM GI-DPI, Grenoble, France Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, Academic Center for Education, Culture, and Research, Tehran, Iran PubMed articlesGoogle scholar articles
  • Weiyu Li Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China PubMed articlesGoogle scholar articles
  • Huan Wu Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Zine-Eddine Kherraf Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France Centre Hospitalier Universitaire de Grenoble, UM GI-DPI, Grenoble, France PubMed articlesGoogle scholar articles
  • Wangjie Liu Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China PubMed articlesGoogle scholar articles
  • Jingjing Zhang Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Qing Tan Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Shuyan Tang Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China PubMed articlesGoogle scholar articles
  • Yong-Jun Zhu Department of Thoracic Surgery, Huashan Hospital, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Yading Zhong Department of Radiology, The First Affiliated Hospital of Anhui Medical University, Hefei, China PubMed articlesGoogle scholar articles
  • Caihua Li Genesky Biotechnologies Inc, Shanghai, China PubMed articlesGoogle scholar articles
  • Shixiong Tian Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Zhiguo Zhang Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Li Jin Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Pierre Ray Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France Centre Hospitalier Universitaire de Grenoble, UM GI-DPI, Grenoble, France PubMed articlesGoogle scholar articles
  • Feng Zhang Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China PubMed articlesGoogle scholar articles
  • Yunxia Cao Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Feng Zhang, Fudan University, Shanghai, China; zhangfeng{at}fudan.edu.cn; Professor Yunxia Cao, Anhui Medical University, Hefei, China; caoyunxia6{at}126.com
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Citation

Liu C, Lv M, He X, et al
Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility
Journal of Medical Genetics 2020;57:31-37.

Publication history

  • Received January 12, 2019
  • Revised March 21, 2019
  • Accepted April 2, 2019
  • First published May 2, 2019.
Online issue publication 
May 18, 2023

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