The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans

Autor: Wyrwoll, MJ, Gaasbeek, CM, Golubickaite, I, Stakaitis, R, Oud, MS, Nagirnaja, L, Dion, C, Sindi, EB, Leitch, HG, Jayasena, CN, Sironen, A, Dicke, A-K, Rotte, N, Stallmeyer, B, Kliesch, S, Grangeiro, CHP, Araujo, TF, Lasko, P, Genetics of Male Infertility Initiative (GEMINI) consortium, D'Hauwers, K, Smits, RM, Ramos, L, Xavier, MJ, Conrad, DF, Almstrup, K, Veltman, JA, Tüttelmann, F, Van der Heijden, GW

Publikováno v: Wyrwoll, M J, Gaasbeek, C M, Golubickaite, I, Stakaitis, R, Oud, M S, Nagirnaja, L, Dion, C, Sindi, E B, Leitch, H G, Jayasena, C N, Sironen, A, Dicke, A-K, Rotte, N, Stallmeyer, B, Kliesch, S, Grangeiro, C H P, Araujo, T F, Lasko, P, D'Hauwers, K, Smits, R M, Ramos, L, Xavier, M J, Conrad, D F, Almstrup, K, Veltman, J A, Tüttelmann, F, van der Heijden, G W & Genetics of Male Infertility Initiative (GEMINI) consortium 2022, ' The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans ', American Journal of Human Genetics, vol. 109, no. 10, pp. 1850-1866 . https://doi.org/10.1016/j.ajhg.2022.09.002
American Journal of Human Genetics, 109, 10, pp. 1850-1866
American Journal of Human Genetics, 109, 1850-1866

Contains fulltext : 282942.pdf (Publisher’s version ) (Open Access) Infertility affects around 7% of the male population and can be due to severe spermatogenic failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651bdd0e39b0065428325e62a6a8c971
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/282942

The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.

Autor: Wyrwoll MJ; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Gaasbeek CM; Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, the Netherlands; Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, the Netherlands., Golubickaite I; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA; Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Genetics and Molecular Medicine, Lithuanian University of Health Sciences, Kaunas, Lithuania., Stakaitis R; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA; Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Laboratory of Molecular Neurooncology, Neuroscience Institute, Lithuanian University of Health Sciences, Kaunas, Lithuania., Oud MS; Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, the Netherlands., Nagirnaja L; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA., Dion C; MRC London Institute of Medical Sciences, London, UK; Institute of Clinical Sciences, Imperial College London, London, UK., Sindi EB; Section of Investigative Medicine, Imperial College London, London, UK., Leitch HG; MRC London Institute of Medical Sciences, London, UK; Institute of Clinical Sciences, Imperial College London, London, UK; Centre for Paediatrics and Child Health, Faculty of Medicine, Imperial College London, London, UK., Jayasena CN; Section of Investigative Medicine, Imperial College London, London, UK., Sironen A; Natural Resources Institute Finland, Production Systems, Jokioinen, Finland; Great Ormond Street Institute of Child Health, University College London, London, UK., Dicke AK; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Rotte N; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Stallmeyer B; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Kliesch S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital of Münster, Münster, Germany., Grangeiro CHP; Complexo Hospitalar of Federal University of Ceará, Fortaleza, Brazil., Araujo TF; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil., Lasko P; Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands; Department of Biology, McGill University, Montréal, QC, Canada., D'Hauwers K; Department of Urology, Radboudumc, Nijmegen, the Netherlands., Smits RM; Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, the Netherlands., Ramos L; Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, the Netherlands., Xavier MJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA., Almstrup K; Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany., van der Heijden GW; Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: godfried.vanderheijden@radboudumc.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Oct 06; Vol. 109 (10), pp. 1850-1866. Date of Electronic Publication: 2022 Sep 22.

Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.

Autor: Giugliani R; Medical Genetics Service, HCPA, Department of Genetics, UFRGS, INAGEMP and DR Brasil Research Group, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS, 90035-903, Brazil. rgiugliani@hcpa.edu.br., Barth AL; Medical Genetics Department, National Institute of Women, Children, and Adolescent Health, Oswaldo Cruz Foundation, Rio de Janeiro, RJ, Brazil., Dumas MRC; Rare Diseases Service - APAE Salvador, Salvador, BA, Brazil., da Silva Franco JF; Hospital Infantil Sabará -SP and University of São Paulo/ IPEN, São Paulo, SP, Brazil., de Rosso Giuliani L; Faculty of Medicine, Federal University of Mato Grosso Do Sul and Hospital Universitário Maria Aparecida Pedrossian (HUMAP/UFMS), Campo Grande, MS, Brazil., Grangeiro CHP; Complexo Hospitalar, Federal University of Ceará, Fortaleza, CE, Brazil., Horovitz DDG; Medical Genetics Department, National Institute of Women, Children, and Adolescent Health, Oswaldo Cruz Foundation, Rio de Janeiro, RJ, Brazil., Kim CA; Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina University of São Paulo, São Paulo, SP, Brazil., de Araújo Leão EKE; Medical Genetics Service, Hospital Universitário Prof. Edgard Santos, Salvador, BA, Brazil., de Medeiros PFV; Federal University of Campina Grande, Campina Grande, PB, Brazil., Miguel DSCG; Escola Bahiana de Medicina E Saúde Pública, Salvador, BA, Brazil., Moreira MESA; Hospital Infantil Lucidio Portella, Teresina, PI, Brazil., Dos Santos HMGP; Rare Diseases Service - APAE Salvador, Salvador, BA, Brazil., da Silva LCS; Laboratory of Inborn Errors of Metabolism, Institute of Biological Sciences, Federal University of Pará, INAGEMP, Belém, PA, Brazil., da Silva LR; Hospital de Clínicas, Federal University of Uberlândia, Uberlândia, MG, Brazil., de Souza IN; Hospital Universitário Bettina Ferro de Souza, Federal University of Pará, Belém, PA, Brazil., Nalin T; Ultragenyx Brasil Farmacêutica Ltda, São Paulo, SP, Brazil., Garcia D; Ultragenyx Brasil Farmacêutica Ltda, São Paulo, SP, Brazil.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 May 22; Vol. 16 (1), pp. 238. Date of Electronic Publication: 2021 May 22.

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.

Autor: Carvalho SDCES; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil., Grangeiro CHP; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Medical Genetics Service of the University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil., Picanço-Albuquerque CG; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Medical Genetics Service of the University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil., Dos Anjos TO; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil., De Molfetta GA; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil., Silva WA Jr; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.; Regional Blood Center of Ribeirão Preto (FUNDHERP) of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil., Ferraz VEF; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil. vferraz@usp.br.; Medical Genetics Service of the University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil. vferraz@usp.br.; Center for Medical Genomics at University Hospital of the Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil. vferraz@usp.br.

Publikováno v: BMC research notes [BMC Res Notes] 2018 Aug 02; Vol. 11 (1), pp. 546. Date of Electronic Publication: 2018 Aug 02.