Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure

Autor: Hardy, JJ, Wyrwoll, MJ, Mcfadden, W, Malcher, A, Rotte, N, Pollock, NC, Munyoki, S, Veroli, MV, Houston, BJ, Xavier, MJ, Kasak, L, Punab, M, Laan, M, Kliesch, S, Schlegel, P, Jaffe, T, Hwang, K, Vukina, J, Brieno-Enriquez, MA, Orwig, K, Yanowitz, J, Buszczak, M, Veltman, JA, Oud, M, Nagirnaja, L, Olszewska, M, O'Bryan, MK, Conrad, DF, Kurpisz, M, Tuttelmann, F, Yatsenko, AN, Krausz C.G., GEMINI Consortium

Publikováno v: HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)

Male infertility impacts millions of couples yet, the etiology of primary infertility remains largely unknown. A critical element of successful spermatogenesis is maintenance of genome integrity. Here, we present a genomic study of spermatogenic fail

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::cc2d66cd1c29200ee21563e9d8377f49
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4741

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.

Autor: Hardy JJ; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, USA., Wyrwoll MJ; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Mcfadden W; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, USA., Malcher A; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Rotte N; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Pollock NC; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, USA., Munyoki S; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, USA., Veroli MV; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, USA., Houston BJ; School of BioSciences, The University of Melbourne, Parkville, Australia., Xavier MJ; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Kasak L; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia., Punab M; Andrology Centre, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Laan M; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, Münster, Germany., Schlegel P; Department of Urology, Weill Cornell Medicine, New York, USA., Jaffe T; Department of Urology, School of Medicine, West Virginia University, Morgantown, USA., Hwang K; Department of Urology, School of Medicine, University of Pittsburgh, Pittsburgh, USA., Vukina J; Department of Urology, School of Medicine, University of Pittsburgh, Pittsburgh, USA., Brieño-Enríquez MA; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, USA., Orwig K; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, USA., Yanowitz J; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, USA., Buszczak M; Department of Molecular Biology and Center of Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, USA., Veltman JA; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Oud M; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Nagirnaja L; Department of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA., Olszewska M; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., O'Bryan MK; School of BioSciences, The University of Melbourne, Parkville, Australia., Conrad DF; Department of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA., Kurpisz M; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland. maciej.kurpisz@man.poznan.pl., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany. Frank.Tuettelmann@ukmuenster.de., Yatsenko AN; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, USA. yatsenkoan@mwri.magee.edu.

Publikováno v: Human genetics [Hum Genet] 2021 Aug; Vol. 140 (8), pp. 1169-1182. Date of Electronic Publication: 2021 May 07.

Molecular analysis of benzimidazole-resistance associated SNPs in Haemonchus contortus populations of Uruguay.

Autor: Munguía B; Área de Farmacología, Depto. CIENFAR, Facultad de Química, Universidad de la República (Udelar), General Flores 2124, 11800 Montevideo, Uruguay. Electronic address: munguia@fq.edu.uy., Teixeira R; Área de Farmacología, Depto. CIENFAR, Facultad de Química, Universidad de la República (Udelar), General Flores 2124, 11800 Montevideo, Uruguay., Veroli MV; Sección Bioquímica y Biología Molecular, Facultad de Ciencias, Udelar, Iguá 4225, 11400 Montevideo, Uruguay., Marín M; Sección Bioquímica y Biología Molecular, Facultad de Ciencias, Udelar, Iguá 4225, 11400 Montevideo, Uruguay., Domínguez L; Área de Farmacología, Depto. CIENFAR, Facultad de Química, Universidad de la República (Udelar), General Flores 2124, 11800 Montevideo, Uruguay.

Publikováno v: Veterinary parasitology, regional studies and reports [Vet Parasitol Reg Stud Reports] 2018 Aug; Vol. 13, pp. 110-114. Date of Electronic Publication: 2018 May 17.