Zobrazeno 1 - 10
of 65
pro vyhledávání: '"F. David Carmona"'
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
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, IVIRMA Group, Lisbon Clinical Group
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstr
Externí odkaz:
https://doaj.org/article/888486e3bcaf4088a22f990d7ff53f24
Autor:
Elena López-Isac, Marialbert Acosta-Herrera, Martin Kerick, Shervin Assassi, Ansuman T. Satpathy, Jeffrey Granja, Maxwell R. Mumbach, Lorenzo Beretta, Carmen P. Simeón, Patricia Carreira, Norberto Ortego-Centeno, Ivan Castellvi, Lara Bossini-Castillo, F. David Carmona, Gisela Orozco, Nicolas Hunzelmann, Jörg H. W. Distler, Andre Franke, Claudio Lunardi, Gianluca Moroncini, Armando Gabrielli, Jeska de Vries-Bouwstra, Cisca Wijmenga, Bobby P. C. Koeleman, Annika Nordin, Leonid Padyukov, Anna-Maria Hoffmann-Vold, Benedicte Lie, European Scleroderma Group, Susanna Proudman, Wendy Stevens, Mandana Nikpour, Australian Scleroderma Interest Group (ASIG), Timothy Vyse, Ariane L. Herrick, Jane Worthington, Christopher P. Denton, Yannick Allanore, Matthew A. Brown, Timothy R. D. J. Radstake, Carmen Fonseca, Howard Y. Chang, Maureen D. Mayes, Javier Martin
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Systemic sclerosis (SSc) is a heterogeneous chronic autoimmune disease that affects the connective tissue. Here, López-Isac et al. identify 13 new risk loci for SSc as well as loci specific for limited cutaneous and diffuse SSc and, defining credibl
Externí odkaz:
https://doaj.org/article/2c83b5b19dd94142a96da7824aa29e78
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:
Journal of Personalized Medicine, Vol 12, Iss 6, p 932 (2022)
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://doaj.org/article/7a24ea05e5c342a682a99a88c7c0494e
Autor:
Sofía Aguilar-Lacasaña, Inmaculada López-Flores, Beatriz González-Alzaga, María José Giménez-Asensio, F. David Carmona, Antonio F. Hernández, María Felicidad López Gallego, Desirée Romero-Molina, Marina Lacasaña
Publikováno v:
Nutrients, Vol 13, Iss 3, p 831 (2021)
Identification of causal factors that influence fetal growth and anthropometry at birth is of great importance as they provide information about increased risk of disease throughout life. The association between maternal genetic polymorphism MTHFR(67
Externí odkaz:
https://doaj.org/article/dd3f9127185b4932a7f780a7dc5fdf6b
Autor:
Raquel López-Mejías, F. David Carmona, Santos Castañeda, Fernanda Genre, Sara Remuzgo-Martínez, Belén Sevilla-Perez, Norberto Ortego-Centeno, Javier Llorca, Begoña Ubilla, Verónica Mijares, Trinitario Pina, José A. Miranda-Filloy, Antonio Navas Parejo, Diego de Argila, Maximiliano Aragües, Esteban Rubio, Manuel León Luque, Juan María Blanco-Madrigal, Eva Galíndez-Aguirregoikoa, David Jayne, Ricardo Blanco, Javier Martín, Miguel A. González-Gay
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-6 (2017)
Abstract The genetic component of Immunoglobulin-A (IgA) vasculitis is still far to be elucidated. To increase the current knowledge on the genetic component of this vasculitis we performed the first genome-wide association study (GWAS) on this condi
Externí odkaz:
https://doaj.org/article/3e33d0a736e14f4593fe38919470b3d3
Autor:
Miriam Cerván-Martín, Lara Bossini-Castillo, 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, Andrea Guzmán-Jiménez, Cláudia Costa, Inés Llinares-Burguet, Chiranan Khantham, Miguel Burgos, Francisco J. Barrionuevo, Rafael Jiménez, Josvany Sánchez-Curbelo, Olga López-Rodrigo, M. Fernanda Peraza, Iris Pereira-Caetano, Patricia I. Marques, Filipa Carvalho, Alberto Barros, Lluís Bassas, Susana Seixas, João Gonçalves, Sara Larriba, Alexandra M. Lopes, Rogelio J. Palomino-Morales, F. David Carmona
Publikováno v:
Journal of Personalized Medicine, Vol 11, Iss 1, p 22 (2020)
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://doaj.org/article/fd7d40a1efd048c4a5f1825a040635eb
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 2, p 300 (2020)
Nonobstructive azoospermia (NOA) represents the most severe expression of male infertility, involving around 1% of the male population and 10% of infertile men. This condition is characterised by the inability of the testis to produce sperm cells, an
Externí odkaz:
https://doaj.org/article/b87135c578b4497791a16bab7dfac63b
Publikováno v:
Reproductive BioMedicine Online. 45:332-340
Would the use of genome-wide genotyping be an advantageous strategy to identify the molecular aetiology of two brothers from a non-consanguineous family, clinically diagnosed with total globozoospermia?Two related Spanish globozoospermic patients wer
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