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Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.
Wang, Guanxiong; Zhu, Xiaoyu; Gao, Yang; Lv, Mingrong; Li, Kuokuo; Tang, Dongdong; Wu, Huan; Xu, Chuan; Geng, Hao; Shen, Qunshan; Zha, Xiaomin; Duan, Zongliu; Zhang, Jingjing; Hua, Rong; Tao, Fangbiao; Zhou, Ping; Wei, Zhaolian; Cao, Yunxia; Guo, Rui; He, Xiaojin.
Affiliation
  • Wang G; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
  • Zhu X; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, Anhui, China.
  • Gao Y; Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Ministry of Education of the People's Republic of China, Hefei, Anhui, China.
  • Lv M; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
  • Li K; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, Anhui, China.
  • Tang D; Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Ministry of Education of the People's Republic of China, Hefei, Anhui, China.
  • Wu H; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
  • Xu C; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, Anhui, China.
  • Geng H; Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Ministry of Education of the People's Republic of China, Hefei, Anhui, China.
  • Shen Q; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
  • Zha X; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, Anhui, China.
  • Duan Z; Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Ministry of Education of the People's Republic of China, Hefei, Anhui, China.
  • Zhang J; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.
  • Hua R; Anhui Provincial Engineering Research Center of Biopreservation and Artificial Organs, Hefei, Anhui, China.
  • Tao F; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
  • Zhou P; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, Anhui, China.
  • Wei Z; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.
  • Cao Y; Anhui Provincial Engineering Research Center of Biopreservation and Artificial Organs, Hefei, Anhui, China.
  • Guo R; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
  • He X; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, Anhui, China.
Hum Mutat ; 43(12): 2079-2090, 2022 12.
Article in En | MEDLINE | ID: mdl-36135717
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Asthenozoospermia / Septins / Infertility, Male Limits: Female / Humans / Male / Pregnancy Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: China
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Asthenozoospermia / Septins / Infertility, Male Limits: Female / Humans / Male / Pregnancy Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: China