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15 p, 1.2 MB |
A systematic review of the validated monogenic causes of human male infertility : 2020 update and a discussion of emerging gene-disease relationships
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Houston, Brendan J. (School of BioSciences and Bio21 Institute. The University of Melbourne) ;
Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ;
Wyrwoll, Margot J. (Institute of Reproductive Genetics. University of Münster) ;
Salas-Huetos, Albert (Department of Nutrition. Harvard T.H. Chan School of Public Health. Harvard University) ;
Xavier, Miguel J. (Faculty of Medical Sciences. Biosciences Institute. Newcastle University) ;
Nagirnaja, Liina (Genetics of Male Infertility Initiative (GEMINI)) ;
Friedrich, Corinna (Institute of Reproductive Genetics. University of Münster) ;
Conrad, Donald F. (International Male Infertility Genomics Consortium (IMIGC)) ;
Aston, Kenneth I. (International Male Infertility Genomics Consortium (IMIGC)) ;
Krausz, Csilla (University of Florence) ;
Tüttelmann, Frank (International Male Infertility Genomics Consortium (IMIGC)) ;
O'bryan, Moira K. (International Male Infertility Genomics Consortium (IMIGC)) ;
Veltman, Joris A. (International Male Infertility Genomics Consortium (IMIGC)) ;
Oud, Manon S. (Department of Human Genetics. Donders Institute for Brain. Cognition and Behaviour. Radboudumc) ;
Universitat Autònoma de Barcelona
Background: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but a majority (60-70%) remain without a clear diagnosis and are classified as unexplained. [...]
2022 -  10.1093/humupd/dmab030
Human Reproduction Update, Vol. 28 Núm. 1 (january 2022) , p. 15-29
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18 p, 4.7 MB |
Diverse monogenic subforms of human spermatogenic failure
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Nagirnaja, Liina (Oregon Health & Science University) ;
Lopes, Alexandra M. (IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto) ;
Charng, Wu-Lin (Washington University) ;
Miller, Brian (Oregon Health & Science University) ;
Stakaitis, Rytis (Lithuanian University of Health Sciences) ;
Golubickaite, Ieva (Lithuanian University of Health Sciences) ;
Stendahl, Alexandra (Oregon Health & Science University) ;
Luan, Tianpengcheng (The University of Melbourne) ;
Friedrich, Corinna (University of Münster) ;
Mahyari, Eisa (Oregon Health & Science University) ;
Fadial, Eloise (Oregon Health & Science University) ;
Kasak, Laura (University of Tartu) ;
Vigh-Conrad, Katinka (Oregon Health & Science University) ;
Oud, Manon S. (Radboud University Medical Centre) ;
Xavier, Miguel (Newcastle University) ;
Cheers, Samuel R. (The University of Melbourne) ;
James, Emma R. (University of Utah School of Medicine) ;
Guo, Jingtao (University of Utah School of Medicine) ;
Jenkins, Timothy G. (University of Utah School of Medicine) ;
Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ;
Barros, Alberto (Faculdade de Medicina da Universidade do Porto) ;
Carvalho, Filipa (Faculdade de Medicina da Universidade do Porto) ;
Fernandes, Susana (Faculdade de Medicina da Universidade do Porto) ;
Gonçalves, João (Nova Medical School) ;
Gurnett, Christina A. (Washington University.) ;
Jørgensen, Niels (Copenhagen University Hospital - Rigshospitalet) ;
Jezek, Davor (University of Zagreb School of Medicine) ;
Jungheim, Emily S. (Division of Reproductive Endocrinology) ;
Kliesch, Sabine (University Hospital of Münster (Alemanya)) ;
McLachlan, Robert I. (Monash University) ;
Omurtag, Kenan R. (Division of Reproductive Endocrinology) ;
Pilatz, Adrian (Justus Liebig University) ;
Sandlow, Jay I. (Medical College of Wisconsin) ;
Smith, James (University California San Francisco) ;
Eisenberg, Michael L. (Stanford University School of Medicine) ;
Hotaling, James M. (University of Utah School of Medicine) ;
Jarvi, Keith A. (University of Toronto) ;
Punab, Margus (University of Tartu) ;
Rajpert-De Meyts, Ewa (Copenhagen University Hospital - Rigshospitalet) ;
Carrell, Douglas T. (University of Utah School of Medicine) ;
Krausz, Csilla (University of Florence) ;
Laan, Maris (University of Tartu) ;
O'Bryan, Moira Kathleen (Monash University) ;
Schlegel, Peter N. (Weill Cornell Medicine) ;
Tüttelmann, Frank (University of Münster) ;
Veltman, Joris A. (Newcastle University) ;
Almstrup, Kristian (Copenhagen University Hospital - Rigshospitalet) ;
Aston, Kenneth I. (University of Utah School of Medicine) ;
Conrad, Donald F. (Oregon Health & Science University) ;
Universitat Autònoma de Barcelona
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA subforms is not based on genetics, but simple description of testis histology. [...]
2022 - 10.1038/s41467-022-35661-z
Nature communications, Vol. 13 (december 2022)
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13 p, 2.5 MB |
Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility
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Cerván-Martín, Miriam (Instituto de Investigación Sanitaria de Granada) ;
Tüttelmann, Frank (Institute of Reproductive Genetics. University of Münster) ;
Lopes, Alexandra M. (Center for Predictive and Preventive Genetics. Institute for Cell and Molecular Biology. University of Porto) ;
Bossini-Castillo, Lara (Instituto de Investigación Sanitaria de Granada) ;
Rivera-Egea, Rocío (Instituto de Investigación Sanitaria La Fe (València)) ;
Garrido, Nicolás (Instituto de Investigación Sanitaria La Fe (València)) ;
Lujan, Saturnino (Instituto de Investigación Sanitaria La Fe (València)) ;
Romeu, Gema (Instituto de Investigación Sanitaria La Fe (València)) ;
Santos-Ribeiro, Samuel (Department of Obstetrics and Gynecology. Faculty of Medicine. University of Lisbon) ;
Castilla, José Antonio (CEIFER Biobanco - GAMETIA) ;
Gonzalvo, M. Carmen (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ;
Clavero, Ana (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ;
Maldonado, Vicente (UGC de Obstetricia y Ginecología. Complejo Hospitalario de Jaén) ;
Vicente, F.Javier (UGC de Urología. HU Virgen de las Nieves) ;
González-Muñoz, Sara (Instituto de Investigación Sanitaria de Granada) ;
Guzmán-Jiménez, Andrea (Instituto de Investigación Sanitaria de Granada) ;
Burgos, Miguel (Universidad de Granada. Departamento de Genética) ;
Jiménez, Rafael (Universidad de Granada. Departamento de Genética) ;
Pacheco, Alberto (Universidad Alfonso X El Sabio. Facultad de Ciencias de la Salud) ;
González, Cristina (Instituto de Investigación Sanitaria La Fe) ;
Gómez, Susana (Instituto de Investigación Sanitaria La Fe) ;
Amorós, David (Instituto de Investigación Sanitaria La Fe) ;
Aguilar, Jesús (Instituto de Investigación Sanitaria La Fe) ;
Quintana, Fernando (Instituto de Investigación Sanitaria La Fe) ;
Calhaz-Jorge, Carlos (Centro Hospitalar Universitário de Lisboa Norte) ;
Aguiar, Ana (Centro Hospitalar Universitário de Lisboa Norte) ;
Nunes, Joaquim (Centro Hospitalar Universitário de Lisboa Norte) ;
Sousa, Sandra (Centro Hospitalar Universitário de Lisboa Norte) ;
Pereira, Isabel (Centro Hospitalar Universitário de Lisboa Norte) ;
Pinto, Maria Graça (Centro Hospitalar Universitário de Lisboa Central) ;
Correia, Sónia (Centro Hospitalar Universitário de Lisboa Central) ;
Sánchez-Curbelo, Josvany (Institut d'Investigació Biomèdica Sant Pau) ;
López-Rodrigo, Olga (Fundació Puigvert) ;
Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Pereira-Caetano, Iris (Departamento de Genética Humana. Instituto Nacional de Saúde Dr. Ricardo Jorge) ;
Marques, Patricia I. (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ;
Carvalho, Filipa (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina. Universidade do Porto) ;
Barros, Alberto (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina. Universidade do Porto) ;
Gromoll, Jörg (Institute of Reproductive and Regenerative Biology. Centre of Reproductive Medicine and Andrology. University of Münster. University Clinics) ;
Bassas, Lluís (Institut d'Investigació Biomèdica Sant Pau) ;
Seixas, Susana (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ;
Gonçalves, João (ToxOmics - Centro de Toxicogenómica e Saúde Humana. Nova Medical School) ;
Larriba, Sara (Institut d'Investigació Biomèdica de Bellvitge) ;
Kliesch, Sabine (University Hospital Münster. Department of Clinical and Surgical Andrology. Centre of Reproductive Medicine and Andrology) ;
Palomino-Morales, Rogelio J. (Universidad de Granada. Departamento de Bioquímica y Biología Molecular) ;
Carmona, F. David (Instituto de Investigación Sanitaria de Granada) ;
Universitat Autònoma de Barcelona
We conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. [...]
2022 - 10.1038/s42003-022-04192-0
Communications Biology, Vol. 5 Núm. 1 (december 2022) , p. 1220
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10 p, 1.6 MB |
A de novo paradigm for male infertility
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Oud, Manon S (Radboudumc) ;
Smits, R. M. (Radboudumc) ;
Smith, H. E. (Newcastle University) ;
Mastrorosa, Francesco Kumara (Newcastle University) ;
Holt, G. S. (Newcastle University) ;
Houston, B. J. (The University of Melbourne) ;
de Vries, P. F. (Radboudumc) ;
Alobaidi, Bilal K. (Newcastle University) ;
Batty, L. E. (Newcastle University) ;
Ismail, H. (Newcastle University) ;
Greenwood, J. (The Newcastle upon Tyne Hospitals NHS Foundation Trust) ;
Sheth, Harsh (Institute of Human Genetics, Ahmedabad) ;
Mikulasova, A. (Newcastle University. Biosciences Institute, Faculty of Medical Sciences) ;
Astuti, G. D. N. (Diponegoro University. Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine) ;
Gilissen, Christian (Radboudumc) ;
McEleny, K. (The Newcastle upon Tyne Hospitals NHS Foundation Trust) ;
Turner, H. (The Newcastle upon Tyne Hospitals NHS Foundation Trust) ;
Coxhead, Jonathan (Newcastle University) ;
Cockell, S. (Newcastle University, Newcastle upon Tyne) ;
Braat, Didi (Radboudumc) ;
Fleischer, K. (Radboudumc) ;
D'Hauwers, K. W. M. (Radboudumc) ;
Schaafsma, E. (Radboudumc) ;
Nagirnaja, Liina (Oregon Health & Science University) ;
Conrad, Donald F. (Oregon Health & Science University) ;
Friedrich, C. (University of Münster) ;
Kliesch, Sabine (University Hospital of Münster (Alemanya)) ;
Aston, Kenneth I (University of Utah School of Medicine) ;
Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ;
Krausz, Csilla (University of Florence) ;
Gonzaga-Jauregui, C. (Regeneron Genetics Center) ;
Santibanez-Koref, M. (Newcastle University) ;
Elliott, D. J. (Newcastle University) ;
Vissers, Lisenka (Radboudumc) ;
Tüttelmann, Frank (University of Münster) ;
O'Bryan, Moira Kathleen (The University of Melbourne) ;
Ramos, Liliana (Radboudumc) ;
Xavier, Miguel (Newcastle University) ;
van der Heijden, G. W. (Radboudumc) ;
Veltman, Joris A. (Newcastle University) ;
Universitat Autònoma de Barcelona
De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. [...]
2022 - 10.1038/s41467-021-27132-8
Nature communications, Vol. 13 (january 2022)
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