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  • Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella

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Novel disease loci
Original article
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella

Authors

  • 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
  • Weiyu Li Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, 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
  • 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
  • Wangjie Liu Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Chunyu Liu Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Fuxi Zhu 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
  • Caihua Li Genesky Biotechnologies Inc, Shanghai, China PubMed articlesGoogle scholar articles
  • Youyan Fang 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 PubMed articlesGoogle scholar articles
  • Chenyu Yang Center of Cryo-Electron Microscopy, Zhejiang University, Hangzhou, China PubMed articlesGoogle scholar articles
  • Huiru Cheng Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China PubMed articlesGoogle scholar articles
  • Junqiang Zhang Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China PubMed articlesGoogle scholar articles
  • Jing 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
  • Tingting Chen Department of Pathology, Anhui Medical University, Hefei, China PubMed articlesGoogle scholar articles
  • Dongdong Tang 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
  • Bing Song 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
  • Xue Wang 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
  • Xiaomin Zha 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
  • Hongyan Wang Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Zhaolian Wei 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
  • Shenmin Yang Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China PubMed articlesGoogle scholar articles
  • Hexige Saiyin Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Ping Zhou 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, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Jian Wang Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, 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
  • Feng Zhang Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, 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, Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai 200011, China; zhangfeng{at}fudan.edu.cn and Dr Yunxia Cao, Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; caoyunxia6{at}126.com
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Citation

He X, Li W, Wu H, et al
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella
Journal of Medical Genetics 2019;56:96-103.

Publication history

  • Received May 17, 2018
  • Revised September 27, 2018
  • Accepted September 29, 2018
  • First published November 10, 2018.
Online issue publication 
January 22, 2019

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