Zobrazeno 1 - 10
of 11
pro vyhledávání: '"F. David Carmona"'
Autor:
Sandra Sousa, Susana Seixas, Patrícia Isabel Marques, Olga López-Rodrigo, João Gonçalves, Lluís Bassas, Alberto Pacheco, Alberto Barros, M. Fernanda Peraza, Carlos Calhaz-Jorge, F. David Carmona, Josvany Sánchez-Curbelo, Gema Romeu, Cristina Gonzalez, Miriam Cerván-Martín, Iris Pereira-Caetano, S.C. Correia, Joaquim Nunes, Rocio Rivera-Egea, M. Irene Suazo-Sánchez, Samuel Santos-Ribeiro, Rogelio Palomino-Morales, José A. Castilla, Sara Larriba, Rafael Jiménez, Nicolás Garrido, Vicente Maldonado, David Amoros, Alexandra M. Lopes, Francisco J. Barrionuevo, Susana Gómez, Maria Graça Pinto, Miguel Burgos, Filipa Carvalho, Ana Aguiar, Fernando Quintana, M. Carmen Gonzalvo, Saturnino Luján, J. Aguilar, F. Javier Vicente, Ana Clavero
Objective: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes. Design: Genetic asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e760c0e15d688af86f0dda15218b0cfe
https://hdl.handle.net/10400.18/7351
https://hdl.handle.net/10400.18/7351
Autor:
Sara Remuzgo-Martínez, Miguel A. González-Gay, Fernanda Genre, Javier Llorca, Raquel López-Mejías, Santos Castañeda, Ricardo Blanco, Javier Martin, F. David Carmona
Publikováno v:
Autoimmun Rev. 2018 Mar;17(3):301-315
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Digibug. Repositorio Institucional de la Universidad de Granada
instname
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Digibug. Repositorio Institucional de la Universidad de Granada
instname
We wish to specially thank Begoña Ubilla, Verónica Mijares, Virginia Portilla González, Rodrigo Ochoa, Marta Conde-Jaldón, Lourdes Ortiz-Fernández, Ana Márquez, Luis Sala-Icardo, Javier Rueda-Gotor, Belén Sevilla-Perez, Vanesa Calvo-Río, Nata
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05277c99a6a051ecf43182ffe2a69dbb
http://hdl.handle.net/10902/15688
http://hdl.handle.net/10902/15688
Autor:
Luis E. Echeverría, Sofia Vargas, Marialbert Acosta-Herrera, Javier Martín, Nuria Dolade, F. David Carmona, Daniel A Leon Rodriguez, Clara Isabel González
Publikováno v:
PLoS ONE
Digibug. Repositorio Institucional de la Universidad de Granada
instname
PLoS ONE, Vol 13, Iss 1, p e0190591 (2018)
Digibug. Repositorio Institucional de la Universidad de Granada
instname
PLoS ONE, Vol 13, Iss 1, p e0190591 (2018)
Tyrosine kinase 2 (TYK2) is a member of the Janus kinases family implicated in the signal transduction of type I interferons and several interleukins. It has been described that genetic mutations within TYK2 lead to multiple deleterious effects in th
Autor:
Felicity Mackenzie, Robert Spiera, Javier Martin, Alexandre E. Voskuyl, Ora Gewurz-Singer, Luc Mouthon, Eamonn S. Molloy, Giacomo Emmi, Cisca Wijmenga, B. Marí-Alfonso, Sharon A. Chung, Augusto Vaglio, John G. Taylor, Cee Seng Yee, Christoph Berger, Abdel Salih, Santos Castañeda, Paul A. Monach, Luigi Boiardi, Verena Schönau, David Cuthbertson, Jenny Spimpolo, Asanka Nugaliyadde, Andrew Gough, Lorraine O'Neill, Christine Routledge, Neil McHugh, Michael D Morgan, Yannick Allanore, Stephen Jarrett, Elisabeth Brouwer, Raquel Fernández, Larry W. Moreland, Eugenio de Miguel, Carol A. Langford, Lisa Carr, Sarah L. Mackie, J. Sanchez-Martin, Marc Ramentol-Sintas, Lorenzo Beretta, Steve Martin, Emma Sanders, Sergio Prieto-González, Kathleen Maksimowicz-McKinnon, Inmaculada C. Morado, Lesley Hordon, Yusuf Patel, Thomas Neumann, Genessa Peters, Marco A. Cimmino, Kenneth J. Warrington, Simon Carette, Louise Sorensen, Agustín Martínez Berriochoa, Antoine G. Sreih, Rosanna Fong, M J García-Villanueva, Gary S. Hoffman, Andy Kempa, Javier Narváez, Víctor M. Martínez-Taboada, Karen Culfear, Carlo Salvarani, Francesco Bonatti, Roser Solans, Carol A. McAlear, Susan P Mollan, Luis Caminal-Montero, Laura Tío, Thomas Daikeler, Enrique Raya, Mercedes Pérez-Conesa, José Hernández-Rodríguez, Aleida Martínez Zapico, Philip Seo, Torsten Witte, Charles Li, Julia U Holle, Robert Stevens, Miguel A. González-Gay, Daniel Engelbert Blockmans, Lubna Haroon Rashid, Mohammed Nisar, Rose Wood, A. Unzurrunzaga, Richard A. Watts, Michael H. Weisman, Andreas P. Diamantopoulos, Sanjeet Kamath, Peter A. Merkel, Julien Haroche, Christian Pagnoux, Pradip Nandi, Lynne James, Marc Corbera-Bellalta, Colin T. Pease, Anne Gill, Michael J. Green, J. Bernardino Díaz López, Benedicte A. Lie, Carmen Gómez-Vaquero, Øyvind Molberg, Ulrich Specks, Esme Roads, Sarah Levy, Bhaskar Dasgupta, Steven R. Ytterberg, Zahira Masqood, Ann W. Morgan, Thomas Papo, Anupama Nandagudi, Mercedes Guijarro-Rojas, Curry L. Koening, Bridie Rowbotham, A. Hidalgo-Conde, Nader Khalidi, Jennifer H. Barrett, Norberto Ortego-Centeno, Marcello Govoni, José Luis Callejas, F. David Carmona, Laurent Sailler, James I. Robinson, Bernardo Sopeña, José A. Miranda-Filloy, Lindsy J. Forbess, Maria C. Cid, Jordi Monfort, Alfred Mahr, Oliver Wordsworth, Prisca Gondo, Bobby P. C. Koeleman, Paul J. McLaren, John D. Isaacs, Timothy J. Vyse, Jane Hollywood
Publikováno v:
American journal of human genetics, 100(1), 64-74. Cell Press
American Journal of Human Genetics, 100(1), 64. Cell Press
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Carmona, F D, Vaglio, A, Mackie, S L, Hernández-Rodríguez, J, Monach, P A, Castañeda, S, Solans, R, Morado, I C, Narváez, J, Ramentol-Sintas, M, Pease, C T, Dasgupta, B, Watts, R, Khalidi, N, Langford, C A, Ytterberg, S, Boiardi, L, Beretta, L, Govoni, M, Emmi, G, Bonatti, F, Cimmino, M A, Witte, T, Neumann, T, Holle, J, Schönau, V, Sailler, L, Papo, T, Haroche, J, Mahr, A, Mouthon, L, Molberg, Ø, Diamantopoulos, A P, Voskuyl, A, Brouwer, E, Daikeler, T, Berger, C T, Molloy, E S, O'Neill, L, Blockmans, D, Lie, B A, Mclaren, P, Vyse, T J, Wijmenga, C, Allanore, Y, Koeleman, B P C, Callejas, J L, Caminal-Montero, L, Corbera-Bellalta, M, de Miguel, E, López, J B D, García-Villanueva, M J, Gómez-Vaquero, C, Guijarro-Rojas, M, Hidalgo-Conde, A, Marí-Alfonso, B, Berriochoa, A M, Zapico, A M, Martínez-Taboada, V M, Miranda-Filloy, J A, Monfort, J, Ortego-Centeno, N, Pérez-Conesa, M, Prieto-González, S, Raya, E, Fernández, R R, Sánchez-Martín, J, Sopeña, B, Tío, L, Unzurrunzaga, A, Gough, A, Isaacs, J D, Green, M, McHugh, N, Hordon, L, Kamath, S, Nisar, M, Patel, Y, Yee, C S, Stevens, R, Nandi, P, Nandagudi, A, Jarrett, S, Li, C, Levy, S, Mollan, S, Salih, A, Wordsworth, O, Sanders, E, Roads, E, Gill, A, Carr, L, Routledge, C, Culfear, K, Nugaliyadde, A, James, L, Spimpolo, J, Kempa, A, Mackenzie, F, Fong, R, Peters, G, Rowbotham, B, Masqood, Z, Hollywood, J, Gondo, P, Wood, R, Martin, S, Rashid, L H, Robinson, J I, Morgan, M, Sorensen, L, Taylor, J, Carette, S, Chung, S, Cuthbertson, D, Forbess, L J, Gewurz-Singer, O, Hoffman, G S, Koening, C L, Maksimowicz-McKinnon, K M, McAlear, C A, Moreland, L W, Pagnoux, C, Seo, P, Specks, U, Spiera, R F, Sreih, A, Warrington, K J, Weisman, M, Barrett, J H, Cid, M C, Salvarani, C, Merkel, P A, Morgan, A W, González-Gay, M A & Martín, J 2017, ' A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis ', American Journal of Human Genetics, vol. 100, no. 1, pp. 64-74 . https://doi.org/10.1016/j.ajhg.2016.11.013
American journal of human genetics
Carmona, F D, Vaglio, A, Mackie, S L, Hernández-Rodríguez, J, Monach, P A, Castañeda, S, Solans, R, Morado, I C, Narváez, J, Ramentol-Sintas, M, Pease, C T, Dasgupta, B, Watts, R, Khalidi, N, Langford, C A, Ytterberg, S, Boiardi, L, Beretta, L, Govoni, M, Emmi, G, Bonatti, F, Cimmino, M A, Witte, T, Neumann, T, Holle, J, Schönau, V, Sailler, L, Papo, T, Haroche, J, Mahr, A, Mouthon, L, Molberg, Ø, Diamantopoulos, A P, Voskuyl, A, Brouwer, E, Daikeler, T, Berger, C T, Molloy, E S, O'Neill, L, Blockmans, D, Lie, B A, Mclaren, P, Vyse, T J, Wijmenga, C, Allanore, Y, Koeleman, B P C, Spanish CGA Group, UKGCA Consortium, Vasculitis Clinical Research Consortium, UKGCA Consortium, Vasculitis Clinical Research Consortium & Vasculitis Clinical Research Consortium 2017, ' A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis ', American journal of human genetics, vol. 100, no. 1, pp. 64-74 . https://doi.org/10.1016/j.ajhg.2016.11.013
American Journal of Human Genetics, 100(1), 64-74. CELL PRESS
American Journal of Human Genetics, 100(1), 64. Cell Press
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Carmona, F D, Vaglio, A, Mackie, S L, Hernández-Rodríguez, J, Monach, P A, Castañeda, S, Solans, R, Morado, I C, Narváez, J, Ramentol-Sintas, M, Pease, C T, Dasgupta, B, Watts, R, Khalidi, N, Langford, C A, Ytterberg, S, Boiardi, L, Beretta, L, Govoni, M, Emmi, G, Bonatti, F, Cimmino, M A, Witte, T, Neumann, T, Holle, J, Schönau, V, Sailler, L, Papo, T, Haroche, J, Mahr, A, Mouthon, L, Molberg, Ø, Diamantopoulos, A P, Voskuyl, A, Brouwer, E, Daikeler, T, Berger, C T, Molloy, E S, O'Neill, L, Blockmans, D, Lie, B A, Mclaren, P, Vyse, T J, Wijmenga, C, Allanore, Y, Koeleman, B P C, Callejas, J L, Caminal-Montero, L, Corbera-Bellalta, M, de Miguel, E, López, J B D, García-Villanueva, M J, Gómez-Vaquero, C, Guijarro-Rojas, M, Hidalgo-Conde, A, Marí-Alfonso, B, Berriochoa, A M, Zapico, A M, Martínez-Taboada, V M, Miranda-Filloy, J A, Monfort, J, Ortego-Centeno, N, Pérez-Conesa, M, Prieto-González, S, Raya, E, Fernández, R R, Sánchez-Martín, J, Sopeña, B, Tío, L, Unzurrunzaga, A, Gough, A, Isaacs, J D, Green, M, McHugh, N, Hordon, L, Kamath, S, Nisar, M, Patel, Y, Yee, C S, Stevens, R, Nandi, P, Nandagudi, A, Jarrett, S, Li, C, Levy, S, Mollan, S, Salih, A, Wordsworth, O, Sanders, E, Roads, E, Gill, A, Carr, L, Routledge, C, Culfear, K, Nugaliyadde, A, James, L, Spimpolo, J, Kempa, A, Mackenzie, F, Fong, R, Peters, G, Rowbotham, B, Masqood, Z, Hollywood, J, Gondo, P, Wood, R, Martin, S, Rashid, L H, Robinson, J I, Morgan, M, Sorensen, L, Taylor, J, Carette, S, Chung, S, Cuthbertson, D, Forbess, L J, Gewurz-Singer, O, Hoffman, G S, Koening, C L, Maksimowicz-McKinnon, K M, McAlear, C A, Moreland, L W, Pagnoux, C, Seo, P, Specks, U, Spiera, R F, Sreih, A, Warrington, K J, Weisman, M, Barrett, J H, Cid, M C, Salvarani, C, Merkel, P A, Morgan, A W, González-Gay, M A & Martín, J 2017, ' A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis ', American Journal of Human Genetics, vol. 100, no. 1, pp. 64-74 . https://doi.org/10.1016/j.ajhg.2016.11.013
American journal of human genetics
Carmona, F D, Vaglio, A, Mackie, S L, Hernández-Rodríguez, J, Monach, P A, Castañeda, S, Solans, R, Morado, I C, Narváez, J, Ramentol-Sintas, M, Pease, C T, Dasgupta, B, Watts, R, Khalidi, N, Langford, C A, Ytterberg, S, Boiardi, L, Beretta, L, Govoni, M, Emmi, G, Bonatti, F, Cimmino, M A, Witte, T, Neumann, T, Holle, J, Schönau, V, Sailler, L, Papo, T, Haroche, J, Mahr, A, Mouthon, L, Molberg, Ø, Diamantopoulos, A P, Voskuyl, A, Brouwer, E, Daikeler, T, Berger, C T, Molloy, E S, O'Neill, L, Blockmans, D, Lie, B A, Mclaren, P, Vyse, T J, Wijmenga, C, Allanore, Y, Koeleman, B P C, Spanish CGA Group, UKGCA Consortium, Vasculitis Clinical Research Consortium, UKGCA Consortium, Vasculitis Clinical Research Consortium & Vasculitis Clinical Research Consortium 2017, ' A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis ', American journal of human genetics, vol. 100, no. 1, pp. 64-74 . https://doi.org/10.1016/j.ajhg.2016.11.013
American Journal of Human Genetics, 100(1), 64-74. CELL PRESS
Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e168ba29f9ffe061385948122e8e7a17
https://research.vumc.nl/en/publications/d0dbec2c-2c52-44f8-9c8b-33e370454337
https://research.vumc.nl/en/publications/d0dbec2c-2c52-44f8-9c8b-33e370454337
Publikováno v:
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
Vitamin D is an important modulator of the immune response. It acts over several immune cell types where the Vitamin D receptor (VDR) is expressed. Due to the high relevance of this signaling pathway, several studies have investigated the possible in
Autor:
Gema Robledo, Amr H. Sawalha, Haner Direskeneli, Sule Yavuz, Tamara Fernández-Aranguren, F. David Carmona, Alberto Serrano-Fernández, Javier Martín, Ahmet Mesut Onat
Publikováno v:
The Journal of rheumatology. 43(7)
Objective.To evaluate the genetic background of systemic sclerosis (SSc) in the Turkish population.Methods.There were 354 cases and 718 unaffected controls from Turkey genotyped for the most relevant SSc genetic markers (IRF5-rs10488631, STAT4-rs3821
Publikováno v:
Rheumatology (Oxford, England). 53(1)
Important steps forwards have been taken during recent years towards the understanding of the genetic basis of autoimmunity. The increasing number of study cohorts is allowing better characterization of the genetic component of most autoimmune diseas
Autor:
F David Carmona, Jose-Ezequiel Martin, Lorenzo Beretta, Carmen P Simeón, Patricia E Carreira, José Luis Callejas, Mónica Fernández-Castro, Luis Sáez-Comet, Emma Beltrán, María Teresa Camps, María Victoria Egurbide, Spanish Scleroderma Group, Paolo Airó, Raffaella Scorza, Claudio Lunardi, Nicolas Hunzelmann, Gabriela Riemekasten, Torsten Witte, Alexander Kreuter, Jörg H W Distler, Rajan Madhok, Paul Shiels, Jacob M van Laar, Carmen Fonseca, Christopher Denton, Ariane Herrick, Jane Worthington, Annemie J Schuerwegh, Madelon C Vonk, Alexandre E Voskuyl, Timothy R D J Radstake, Javier Martín
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e54419 (2013)
PLoS One, 8
PLoS One, 8, 1
PLoS ONE, 8(1):e54419. Public Library of Science
Carmona, F D, Martin, J E, Beretta, L, Simeon, C P, Carreira, P E, Callejas, J L, Fernandez-Castro, M, Saez-Comet, L, Beltran, E, Camps, M T, Egurbide, M V, Airo, P, Scorza, R, Lunardi, C, Hunzelmann, N, Riemekasten, G, Witte, T, Kreuter, A, Distler, J H W, Madhok, R, Shiels, P, van Laar, J M, Fonseca, C, Denton, C, Herrick, A, Worthington, J, Schuerwegh, A J, Vonk, M C, Voskuyl, A E, Radstake, T R D J & Martin, J 2013, ' The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis ', PLoS ONE, vol. 8, no. 1, e54419 . https://doi.org/10.1371/journal.pone.0054419
PLoS ONE
PLoS One, 8
PLoS One, 8, 1
PLoS ONE, 8(1):e54419. Public Library of Science
Carmona, F D, Martin, J E, Beretta, L, Simeon, C P, Carreira, P E, Callejas, J L, Fernandez-Castro, M, Saez-Comet, L, Beltran, E, Camps, M T, Egurbide, M V, Airo, P, Scorza, R, Lunardi, C, Hunzelmann, N, Riemekasten, G, Witte, T, Kreuter, A, Distler, J H W, Madhok, R, Shiels, P, van Laar, J M, Fonseca, C, Denton, C, Herrick, A, Worthington, J, Schuerwegh, A J, Vonk, M C, Voskuyl, A E, Radstake, T R D J & Martin, J 2013, ' The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis ', PLoS ONE, vol. 8, no. 1, e54419 . https://doi.org/10.1371/journal.pone.0054419
PLoS ONE
Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory
Autor:
Javier Martín, Clara Isabel González, F. David Carmona, Daniel A Leon Rodriguez, Luis E. Echeverría
Publikováno v:
PLoS Neglected Tropical Diseases, Vol 10, Iss 3, p e0004583 (2016)
PLoS Neglected Tropical Diseases
Digital.CSIC. Repositorio Institucional del CSIC
instname
PLoS Neglected Tropical Diseases
Digital.CSIC. Repositorio Institucional del CSIC
instname
Chagas disease is a parasitic disorder caused by the infection with the flagellated protozoan Trypanosoma cruzi. According to the World Health Organization, more than six million people are currently infected in endemic regions. Genetic factors have
Autor:
Jose Luis Andreu Sanchez, Eugenio De Miguel, F. David Carmona, Patricia E Carreira, Ricardo Blanco, Luis Rodriguez-Rodriguez, José Luis Andreu, Miguel Gonzalez-Gay, Luis Sáez Comet, Norberto Ortego-Centeno, Ivan Castellvi, Monica Rodriguez Carballeira, Federico Diaz-Gonzalez, Jose luis Callejas, Benjamin Fernandez-Gutierrez, MA Aguirre, Javier Narvaez, Emma Beltrán Catalán, Javier Martin, Antonio Fernandez-Nebro, Francisco J Blanco Garcia
Publikováno v:
The Journal of rheumatology. 39(6)
Objective.We evaluated whether a single-nucleotide polymorphism (SNP) of theTRAF6gene previously associated with systemic lupus erythematosus and rheumatoid arthritis may be a common risk factor for systemic sclerosis (SSc) and giant cell arteritis (