Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility

Autor: Miriam Cerván-Martín, Frank Tüttelmann, Alexandra M. Lopes, Lara Bossini-Castillo, Rocío Rivera-Egea, Nicolás Garrido, Saturnino Lujan, Gema Romeu, Samuel Santos-Ribeiro, José A. Castilla, M. Carmen Gonzalvo, Ana Clavero, Vicente Maldonado, F. Javier Vicente, Sara González-Muñoz, Andrea Guzmán-Jiménez, Miguel Burgos, Rafael Jiménez, Alberto Pacheco, Cristina González, Susana Gómez, David Amorós, Jesus Aguilar, Fernando Quintana, Carlos Calhaz-Jorge, Ana Aguiar, Joaquim Nunes, Sandra Sousa, Isabel Pereira, Maria Graça Pinto, Sónia Correia, Josvany Sánchez-Curbelo, Olga López-Rodrigo, Javier Martín, Iris Pereira-Caetano, Patricia I. Marques, Filipa Carvalho, Alberto Barros, Jörg Gromoll, Lluís Bassas, Susana Seixas, João Gonçalves, Sara Larriba, Sabine Kliesch, Rogelio J. Palomino-Morales, F. David Carmona

Publikováno v: Communications Biology, Vol 5, Iss 1, Pp 1-13 (2022)

A GWAS in a large case-control cohort of European ancestry identifies two genomic regions, the MHC class II gene HLA-DRB1 and an upstream locus of VRK1, that are associated with the most severe phenotype of spermatogenic failure.

Externí odkaz: https://doaj.org/article/77b3fe3532a14229aef1e788bb1d7f9d

Contribution of

Autor: Andrea, Guzmán-Jiménez, Sara, González-Muñoz, Miriam, Cerván-Martín, Rocío, Rivera-Egea, Nicolás, Garrido, Saturnino, Luján, Samuel, Santos-Ribeiro, José A, Castilla, M Carmen, Gonzalvo, Ana, Clavero, F Javier, Vicente, Vicente, Maldonado, Javier, Villegas-Salmerón, Miguel, Burgos, Rafael, Jiménez, Maria Graça, Pinto, Isabel, Pereira, Joaquim, Nunes, Josvany, Sánchez-Curbelo, Olga, López-Rodrigo, Iris, Pereira-Caetano, Patricia Isabel, Marques, Filipa, Carvalho, Alberto, Barros, Lluís, Bassas, Susana, Seixas, João, Gonçalves, Alexandra M, Lopes, Sara, Larriba, Rogelio J, Palomino-Morales, F David, Carmona, Lara, Bossini-Castillo

Publikováno v: Frontiers in cell and developmental biology. 10

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e85f289917d025d7dbf5f6555fdfd86c
https://pubmed.ncbi.nlm.nih.gov/36589743

Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome

Autor: Miriam, Cerván-Martín, Lara, Bossini-Castillo, Andrea, Guzmán-Jimenez, Rocío, Rivera-Egea, Nicolás, Garrido, Saturnino, Luján, Gema, Romeu, Samuel, Santos-Ribeiro, Ivirma Group, Lisbon Clinical Group, José A, Castilla, M Carmen, Gonzalvo, Ana, Clavero, F Javier, Vicente, Vicente, Maldonado, Sara, González-Muñoz, Inmaculada, Rodríguez-Martín, Miguel, Burgos, Rafael, Jiménez, Maria Graça, Pinto, Isabel, Pereira, Joaquim, Nunes, Josvany, Sánchez-Curbelo, Olga, López-Rodrigo, Iris, Pereira-Caetano, Patricia Isabel, Marques, Filipa, Carvalho, Alberto, Barros, Lluís, Bassas, Susana, Seixas, João, Gonçalves, Sara, Larriba, Alexandra M, Lopes, F David, Carmona, Rogelio J, Palomino-Morales

Publikováno v: Digibug. Repositorio Institucional de la Universidad de Granada
Consorcio Madroño
Journal of Personalized Medicine; Volume 12; Issue 6; Pages: 932
Journal of Personalized Medicine
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dipòsit Digital de la UB
Universidad de Barcelona

We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood–testis barrier, in the genetic risk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d778db3dba06768423d318cfa2830731
http://hdl.handle.net/10481/76371

Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment

Autor: F. Javier Vicente, Cláudia Pina Costa, Samuel Santos-Ribeiro, Alexandra M. Lopes, Rocio Rivera-Egea, M. Fernanda Peraza, Josvany Sánchez-Curbelo, João Gonçalves, Gema Romeu, Miguel Burgos, Ana Clavero, Iris Pereira-Caetano, Francisco J. Barrionuevo, F. David Carmona, Alberto Barros, Saturnino Luján, Olga López-Rodrigo, Nicolás Garrido, Lluís Bassas, Inés Llinares-Burguet, Susana Seixas, Filipa Carvalho, Rogelio Palomino-Morales, José A. Castilla, Patrícia Isabel Marques, Chiranan Khantham, Sara Larriba, Rafael Jiménez, Andrea Guzmán-Jiménez, Lara Bossini-Castillo, Miriam Cerván-Martín, M. Carmen Gonzalvo

Publikováno v: Journal of Personalized Medicine
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Volume 11
Issue 1
Digibug: Repositorio Institucional de la Universidad de Granada
Universidad de Granada (UGR)
Journal of Personalized Medicine, Vol 11, Iss 22, p 22 (2021)
Digibug. Repositorio Institucional de la Universidad de Granada

Infertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3551e30118af21519839075baad7c0b
https://hdl.handle.net/10400.18/7664

Estudio de la fisiopatología de la luteinización precoz mediante la comparación de diversos marcadores en un modelo de donación de ovocitos

Autor: Juan Mozas, M. Carmen Gonzalvo, Bárbara Romero, Ana Clavero, Laura Revelles, Luis Martínez, Jose Antonio Castilla, M. Luisa López-Regalado, Isabel Rodríguez, Juan Fontes

Publikováno v: Medicina Reproductiva y Embriología Clínica. 5:116-122

Resumen Introduccion Aproximadamente el 50% de las parejas esteriles necesitara de tecnicas de reproduccion asistida para obtener una gestacion, las cuales requieren de estimulacion ovarica. Esta afecta a la calidad ovocitaria y embrionaria por el de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d9a871f55adaa667c27754610eeb0276
https://doi.org/10.1016/j.medre.2018.06.001