A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family.

Autor: Rahim F; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Tao L; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Khan K; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Ali I; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Zeb A; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Khan I; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Dil S; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Abbas T; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Hussain A; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Zubair M; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Zhang H; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Hui M; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Khan MA; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Khyber Pakhtunkhwa, Pakistan., Shah W; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China., Shi Q; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.

Publikováno v: Clinical genetics [Clin Genet] 2024 Oct; Vol. 106 (4), pp. 437-447. Date of Electronic Publication: 2024 Jun 21.

A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.

Autor: Chen D; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Fan G; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Xu Y; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Luo P; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Chen Q; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Chen X; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Guo Z; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Zhu X; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Gao Y; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

Publikováno v: Journal of cellular and molecular medicine [J Cell Mol Med] 2024 Sep; Vol. 28 (18), pp. e70092.

Metabolomics analysis of human spermatozoa reveals impaired metabolic pathways in asthenozoospermia.

Autor: Guerra-Carvalho B; LAQV-REQUIMTE and Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.; ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal., Carrageta DF; Clinical and Experimental Endocrinology, UMIB-Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.; Laboratory for Integrative and Translational Research in Population Health (ITR), University of Porto, Porto, Portugal.; Institute of Biomedicine and (iBiMED), Department of Medical Sciences, University of Aveiro, Campus de Santiago Agra do Crasto, Aveiro, Portugal., Maurício T; Institute of Biomedicine and (iBiMED), Department of Medical Sciences, University of Aveiro, Campus de Santiago Agra do Crasto, Aveiro, Portugal.; Mass Spectrometry Centre, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal., Pereira SC; LAQV-REQUIMTE and Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.; ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal., Barros A; Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal.; Centre for Reproductive Genetics Professor Alberto Barros, Porto, Portugal.; i3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal., Carvalho RA; Department of Life Sciences, Faculty of Sciences and Technology, University of Coimbra, Coimbra, Portugal.; REQUIMTE/LAQV, Group of Pharmaceutical Technology, Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal., Alves MG; Institute of Biomedicine and (iBiMED), Department of Medical Sciences, University of Aveiro, Campus de Santiago Agra do Crasto, Aveiro, Portugal., Domingues P; Mass Spectrometry Centre, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal., Oliveira PF; LAQV-REQUIMTE and Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.

Publikováno v: European journal of clinical investigation [Eur J Clin Invest] 2024 Nov; Vol. 54 (11), pp. e14289. Date of Electronic Publication: 2024 Jul 24.

CCDC189 depletion leads to oligo-astheno-teratozoospermia and male infertility in mice†.

Autor: Zhou H; Department of Histology and Embryology, School of Medicine, Yangzhou University, Yangzhou, China., Yang F; Department of Histology and Embryology, School of Medicine, Yangzhou University, Yangzhou, China.; Department of Obstetrics and Gynecology, Affiliated Hospital, Yangzhou University, Yangzhou, China., Li G; Department of Histology and Embryology, School of Medicine, Yangzhou University, Yangzhou, China., Yuan L; Department of Histology and Embryology, School of Medicine, Yangzhou University, Yangzhou, China., Ge T; Department of Histology and Embryology, School of Medicine, Yangzhou University, Yangzhou, China., Niu C; Department of Histology and Embryology, School of Medicine, Yangzhou University, Yangzhou, China., Zheng Y; Department of Histology and Embryology, School of Medicine, Yangzhou University, Yangzhou, China.; Department of Obstetrics and Gynecology, Affiliated Hospital, Yangzhou University, Yangzhou, China.

Publikováno v: Biology of reproduction [Biol Reprod] 2024 Oct 14; Vol. 111 (4), pp. 800-814.

Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.

Autor: Guo S; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China., Tang D; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China., Chen Y; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China., Yu H; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China., Gu M; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China., Geng H; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, Anhui, China., Fang J; The First Clinical Medical College of Anhui Medical University, Hefei, 230032, China., Wu B; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China., Ruan L; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China., Li K; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China., Xu C; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, Anhui, China., Gao Y; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China., Tan Q; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Anhui Provincial Human Sperm Bank First Affiliated Hospital of Anhui Medical University, Hefei, China., Duan Z; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, Anhui, China., Wu H; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, Anhui, China., Hua R; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, Anhui, China., Guo R; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, Anhui, China., Wei Z; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, Anhui, China., Zhou P; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, Anhui, China., Xu Y; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, Anhui, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, Anhui, China., Cao Y; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. caoyunxia5972@ahmu.edu.cn.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China. caoyunxia5972@ahmu.edu.cn.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China. caoyunxia5972@ahmu.edu.cn., He X; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China. hxj0117@126.com.; Reproductive Medicine Center, Department of Obstetrics and Gynecology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. hxj0117@126.com., Sha Y; Department of Andrology, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, China. shayanwei928@126.com.; Fujian Provincial Key Laboratory of Reproductive Health Research, School of Medicine, Xiamen University, Xiamen, Fujian, China. shayanwei928@126.com.; State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, School of Public Health, Xiamen University, Xiamen, Fujian, China. shayanwei928@126.com., Lv M; Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. lvmingrong2016@163.com.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China. lvmingrong2016@163.com.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China. lvmingrong2016@163.com.

Publikováno v: Human genomics [Hum Genomics] 2024 Sep 11; Vol. 18 (1), pp. 97. Date of Electronic Publication: 2024 Sep 11.