المؤلفون: Yang, F, Gell, K, van der Heijden, GW, Eckardt, S, Leu, NA, Page, DC, Benavente, R, Her, C, Hoog, C, McLaughlin, KJ, Wang, PJ

المصدر: Genes & development. 22(5):682-691

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:116681704

المؤلفون: 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

المساهمون: National Institute for Health Research

المصدر: 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

مصطلحات موضوعية: Male, male infertility, Tacrolimus Binding Proteins, LINE-1, Mice, Semen, Testis, meiosis, Animals, Humans, genetics, RNA, Small Interfering, Spermatogenesis, Genetics (clinical), 11 Medical and Health Sciences, Infertility, Male, Azoospermia, Genetics & Heredity, Genetics of Male Infertility Initiative (GEMINI) consortium, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Other Research Radboud Institute for Health Sciences [Radboudumc 0], 06 Biological Sciences, oligozoospermia, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], FKBP6, Long Interspersed Nucleotide Elements, round spermatid arrest, piRNA-pathway

وصف الملف: application/pdf

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

المؤلفون: Nina Neuhaus, Henrike Krenz, M. Murad Başar, Sabine Kliesch, Corinna Friedrich, Murat Cetinkaya, Roos M. Smits, Nadja Rotte, Frank Tüttelmann, Adrian Pilatz, Semra Kahraman, Joachim Wistuba, Burcu Turkgenc, Albrecht Röpke, Manon S. Oud, Susanne Ledig, Sehime Gulsun Temel, Alexandra M. Lopes, Donald F. Conrad, Daniela Fietz, Marius Wöste, Mahmut Cerkez Ergoren, Margot J. Wyrwoll, Martin Dugas, Joris A. Veltman, Kenneth I. Aston, Filipa Carvalho, João Gonçalves, Liina Nagirnaja, van der Heijden Gw

مصطلحات موضوعية: Azoospermia, Genetics, 0303 health sciences, 030219 obstetrics & reproductive medicine, Biology, medicine.disease, Frameshift mutation, Male infertility, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Meiosis, medicine, Missense mutation, Gene, Exome sequencing, Germ cell, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94445d5e42914190742b05579134744e

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المؤلفون: Wyrwoll MJ; Institute of Reproductive Genetics, University of Münster, Münster, Germany., van der Heijden GW; Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, Netherlands., Krausz C; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', University of Florence, University Hospital of Careggi (AOUC), Florence, Italy., Aston KI; Andrology and IVF Laboratory, Department of Surgery (Urology), University of Utah, Salt Lake City, UT, USA., Kliesch S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University of Münster, Münster, Germany., McLachlan R; Department of Clinical Research, Hudson Institute of Medical Research, Melbourne, Victoria, Australia., Ramos L; Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, Netherlands., Conrad DF; Department of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA., O'Bryan MK; School of BioSciences and Bio21 Institute, The University of Melbourne, Parkville, Victoria, Australia., 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. frank.tuettelmann@ukmuenster.de.

المصدر: Nature reviews. Urology [Nat Rev Urol] 2024 Feb; Vol. 21 (2), pp. 91-101. Date of Electronic Publication: 2023 Sep 18.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101500082 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1759-4820 (Electronic) Linking ISSN: 17594812 NLM ISO Abbreviation: Nat Rev Urol Subsets: MEDLINE

مواضيع طبية MeSH: Infertility, Male*/diagnosis , Infertility, Male*/genetics , Infertility, Male*/pathology, Humans ; Male ; Spermatozoa/pathology ; Testis/pathology ; Phenotype ; Genomics

المؤلفون: Curfs MHJM; Isala Fertility Center, Isala, Zwolle, The Netherlands., Cohlen BJ; Isala Fertility Center, Isala, Zwolle, The Netherlands., Slappendel EJ; Nij Geertgen, Nij Clinics, Elsendorp, The Netherlands., Schoot DC; Department of Gynecology, Catharina Hospital, Eindhoven, The Netherlands., Derhaag JG; Center for Reproductive Medicine, Maastricht University Medical Center, Maastricht, The Netherlands., van Golde RJT; Center for Reproductive Medicine, Maastricht University Medical Center, Maastricht, The Netherlands., van der Heijden GW; Department of Reproductive Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Baart EB; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre, Rotterdam, the Netherlands., Smeenk JMJ; Center for Reproductive Medicine, Elisabeth-Tweesteden Hospital, Tilburg, The Netherlands., Ritfeld VEEG; Department of Gynecology and Obstetrics, Maasstad Hospital, Rotterdam, The Netherlands., Brohet RM; Department of Innovation and Science, Isala, Zwolle, The Netherlands., van Bavel CCAW; Isala Fertility Center, Isala, Zwolle, The Netherlands.

المصدر: Human reproduction (Oxford, England) [Hum Reprod] 2023 Oct 03; Vol. 38 (10), pp. 1952-1960.

نوع المنشور: Randomized Controlled Trial; Multicenter Study; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE

مواضيع طبية MeSH: Ovarian Hyperstimulation Syndrome* , Infertility*/therapy, Pregnancy ; Humans ; Female ; Fertilization in Vitro/methods ; Sperm Injections, Intracytoplasmic/methods ; Embryo Transfer/methods ; Birth Rate ; Live Birth ; Pregnancy Rate

المؤلفون: 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.

مؤلفون مشاركون: Genetics of Male Infertility Initiative (GEMINI) consortium

المصدر: 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.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Azoospermia*/genetics , Infertility, Male*/genetics, Animals ; Humans ; Long Interspersed Nucleotide Elements ; Male ; Mice ; RNA, Small Interfering/metabolism ; Semen ; Spermatogenesis/genetics ; Tacrolimus Binding Proteins/genetics ; Tacrolimus Binding Proteins/metabolism ; Testis/pathology

المؤلفون: Riera-Escamilla A; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau, Barcelona, 08025 Catalonia, Spain., Vockel M; Institute of Human Genetics, University of Münster, Vesaliusweg 12-14, 48149 Münster, Germany., Nagirnaja L; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR 97006, USA., Xavier MJ; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Carbonell A; Institute of Molecular Biology of Barcelona, CSIC, Baldiri Reixac, 4, Barcelona, 08028 Catalonia, Spain; Institute for Research in Biomedicine, IRB Barcelona, The Barcelona Institute for Science and Technology, Baldiri Reixac, 10, Barcelona, 08028 Catalonia, Spain., Moreno-Mendoza D; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau, Barcelona, 08025 Catalonia, Spain; Department of Urology, Hospital del Oriente de Asturias, Arriondas, 33540 Asturias, Spain., Pybus M; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Barcelona, 08025 Catalonia, Spain., Farnetani G; Department of Biomedical, Experimental and Clinical Sciences Mario Serio, University of Florence, Florence 50139, Italy., Rosta V; Department of Biomedical, Experimental and Clinical Sciences Mario Serio, University of Florence, Florence 50139, Italy., Cioppi F; Department of Biomedical, Experimental and Clinical Sciences Mario Serio, University of Florence, Florence 50139, Italy., Friedrich C; Institute of Reproductive Genetics, University of Münster, Vesaliusweg 12-14, 48149 Münster, Germany., Oud MS; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen 6525, the Netherlands., van der Heijden GW; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen 6525, the Netherlands., Soave A; Department of Urology, University Medical Center Hamburg-Eppendorf, Hamburg 20251, Germany., Diemer T; Clinic for Urology, Paediatric Urology and Andrology, Justus Liebig University, Gießen 35392, Germany., Ars E; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Barcelona, 08025 Catalonia, Spain., Sánchez-Curbelo J; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau, Barcelona, 08025 Catalonia, Spain., Kliesch S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster 48149, Germany., O'Bryan MK; The School of BioScience that the Bio21 Institute, The Faculty of Science, The University of Melbourne, Melbourne, VIC 3010, Australia., Ruiz-Castañe E; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau, Barcelona, 08025 Catalonia, Spain., Azorín F; Institute of Molecular Biology of Barcelona, CSIC, Baldiri Reixac, 4, Barcelona, 08028 Catalonia, Spain; Institute for Research in Biomedicine, IRB Barcelona, The Barcelona Institute for Science and Technology, Baldiri Reixac, 10, Barcelona, 08028 Catalonia, Spain., Veltman JA; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Aston KI; Andrology and IVF Laboratories, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT 84132, USA., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR 97006, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Vesaliusweg 12-14, 48149 Münster, Germany., Krausz C; Department of Biomedical, Experimental and Clinical Sciences Mario Serio, University of Florence, Florence 50139, Italy. Electronic address: csilla.krausz@unifi.it.

مؤلفون مشاركون: GEMINI Consortium

المصدر: American journal of human genetics [Am J Hum Genet] 2022 Aug 04; Vol. 109 (8), pp. 1458-1471. Date of Electronic Publication: 2022 Jul 08.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Azoospermia*/genetics , Infertility, Male*/genetics , Oligospermia*, Humans ; Male ; Spermatogenesis/genetics ; X Chromosome

المؤلفون: Komninos D; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands., Ramos L; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands., van der Heijden GW; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands., Morrison MC; Department of Metabolic Health Research, Netherlands Organisation for Applied Scientific Research (TNO), Zernikedreef 9, 2333 CK, Leiden, The Netherlands.; Department of Human and Animal Physiology, Wageningen University, De Elst 1, 6708 WD, Wageningen, The Netherlands., Kleemann R; Department of Metabolic Health Research, Netherlands Organisation for Applied Scientific Research (TNO), Zernikedreef 9, 2333 CK, Leiden, The Netherlands., van Herwaarden AE; Department of Laboratory Medicine, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands., Kiliaan AJ; Department of Medical Imaging, Anatomy, Donders Institute for Brain, Cognition and Behaviour, Preclinical Imaging Center PRIME, Radboud University Medical Center, Geert Grooteplein Noord 21, 6525 EZ, Nijmegen, The Netherlands. Amanda.Kiliaan@Radboudumc.nl., Arnoldussen IAC; Department of Medical Imaging, Anatomy, Donders Institute for Brain, Cognition and Behaviour, Preclinical Imaging Center PRIME, Radboud University Medical Center, Geert Grooteplein Noord 21, 6525 EZ, Nijmegen, The Netherlands.

المصدر: Scientific reports [Sci Rep] 2022 Jan 11; Vol. 12 (1), pp. 430. Date of Electronic Publication: 2022 Jan 11.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Spermatogenesis*, Diet, High-Fat/*adverse effects , Lipoproteins, LDL/*genetics , Obesity/*physiopathology , Spermatids/*growth & development, Animals ; Cholesterol/blood ; Disease Models, Animal ; Humans ; Leptin/blood ; Lipoproteins, LDL/deficiency ; Male ; Meiosis ; Mice ; Mice, Knockout ; Obesity/blood ; Obesity/etiology ; Spermatids/metabolism ; Spermatocytes/growth & development ; Spermatocytes/metabolism ; Testis/cytology ; Testis/growth & development ; Testis/metabolism ; Testosterone/blood