نتائج البحث - "Campuzano, Oscar"

Relation: info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 (ISCIII)/PI19%2F01283/ES/EVALUACION GENETICA DE LA CARDIOTOXICIDAD INDUCIDA POR QUIMIOTERAPIA: ESTUDIO DE ASOCIACION DE GENOMA COMPLETO Y SECUENCIACION DE EXOMA DE INDIVIDUOS CON FENOTIPO MAS SEVERO/; http://hdl.handle.net/10498/31167

الاتاحة: http://hdl.handle.net/10498/31167
https://doi.org/10.3389/fmed.2023.1118585

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6

Academic Journal

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

المؤلفون: BARC, Julien, TADROS, Rafik, GLINGE, Charlotte, CHIANG, David Y, JOUNI, Mariam, SIMONET, Floriane, JURGENS, Sean J, BAUDIC, Manon, NICASTRO, Michele, POTET, Franck, OFFERHAUS, Joost A, WALSH, Roddy, CHOI, Seung Hoan, VERKERK, Arie O, MIZUSAWA, Yuka, ANYS, Soraya, MINOIS, Damien, ARNAUD, Marine, DUCHATEAU, Josselin, WIJEYERATNE, Yanushi D, MUIR, Alison, PAPADAKIS, Michael, CASTELLETTI, Silvia, TORCHIO, Margherita, ORTUÑO, Cristina Gil, LACUNZA, Javier, GIACHINO, Daniela F, CERRATO, Natascia, MARTINS, Raphaël P, CAMPUZANO, Oscar, VAN DOOREN, Sonia, THOLLET, Aurélie, KYNDT, Florence, MAZZANTI, Andrea, CLÉMENTY, Nicolas, BISSON, Arnaud, CORVELEYN, Anniek, STALLMEYER, Birgit, DITTMANN, Sven, SAENEN, Johan, NOËL, Antoine, HONARBAKHSH, Shohreh, RUDIC, Boris, MARZAK, Halim, ROWE, Matthew K, FEDERSPIEL, Claire, LE PAGE, Sophie, PLACIDE, Leslie, MILHEM, Antoine, BARAJAS-MARTINEZ, Hector, BECKMANN, Britt-Maria, KRAPELS, Ingrid P, STEINFURT, Johannes, WINKEL, Bo Gregers, JABBARI, Reza, SHOEMAKER, Moore B, BOUKENS, Bas J, ŠKORIĆ-MILOSAVLJEVIĆ, Doris, BIKKER, Hennie, MANEVY, Federico, LICHTNER, Peter, RIBASÉS, Marta, MEITINGER, Thomas, MÜLLER-NURASYID, Martina, VELDINK, Jan H, VAN DEN BERG, Leonard H, VAN DAMME, Philip, CUSI, Daniele, LANZANI, Chiara, RIGADE, Sidwell, CHARPENTIER, Eric, BARON, Estelle, BONNAUD, Stéphanie, LECOINTE, Simon, DONNART, Audrey, LE MAREC, Hervé, CHATEL, Stéphanie, KARAKACHOFF, Matilde, BÉZIEAU, Stéphane, LONDON, Barry, TFELT-HANSEN, Jacob, RODEN, Dan, ODENING, Katja E, CERRONE, Marina, CHINITZ, Larry A, VOLDERS, Paul G, VAN DE BERG, Maarten P, LAURENT, Gabriel, FAIVRE, Laurence, ANTZELEVITCH, Charles, KÄÄB, Stefan, ARNAOUT, Alain Al, DUPUIS, Jean-Marc, PASQUIE, Jean-Luc, BILLON, Olivier, ROBERTS, Jason D, JESEL, Laurence, BORGGREFE, Martin, LAMBIASE, Pier D, MANSOURATI, Jacques, LOEYS, Bart, LEENHARDT, Antoine, GUICHENEY, Pascale, MAURY, Philippe, SCHULZE-BAHR, Eric, ROBYNS, Tomas, BRECKPOT, Jeroen, BABUTY, Dominique, PRIORI, Silvia G, NAPOLITANO, Carlo, DE ASMUNDIS, Carlo, BRUGADA, Pedro, BRUGADA, Ramon, ARBELO, Elena, BRUGADA, Josep, MABO, Philippe, BEHAR, Nathalie, GIUSTETTO, Carla, MOLINA, Maria Sabater, GIMENO, Juan R, HASDEMIR, Can, SCHWARTZ, Peter J, CROTTI, Lia, MCKEOWN, Pascal P, SHARMA, Sanjay, BEHR, Elijah R, HAISSAGUERRE, Michel, SACHER, Frédéric, ROORYCK, Caroline, TAN, Hanno L, REMME, Carol A, POSTEMA, Pieter G, DELMAR, Mario, ELLINOR, Patrick T, LUBITZ, Steven A, GOURRAUD, Jean-Baptiste, TANCK, Michael W, GEORGE, Alfred L, MACRAE, Calum A, BURRIDGE, Paul W, DINA, Christian, PROBST, Vincent, WILDE, Arthur A, SCHOTT, Jean-Jacques, REDON, Richard, BEZZINA, Connie R

مصطلحات موضوعية: Alleles, Brugada Syndrome, Disease Susceptibility, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Microtubule-Associated Proteins, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Young Adult, Sciences du Vivant [q-bio]/Médecine humaine et pathologie

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/186976

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/186976
https://hdl.handle.net/20.500.12278/186976
https://doi.org/10.1038/s41588-021-01007-6

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7

Academic Journal

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe

المؤلفون: Fernandez-Falgueras, Anna, Coll, Monica, Iglesias, Anna, Tiron, Coloma, Campuzano, Oscar, Brugada, Ramon

المساهمون: Mahdieh, Nejat, 'la Caixa' Foundation

المصدر: PLOS ONE ; volume 19, issue 5, page e0297914 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0297914
https://dx.plos.org/10.1371/journal.pone.0297914

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8

Academic Journal

A narrative review of inherited arrhythmogenic syndromes in young population: role of genetic diagnosis in exercise recommendations

المؤلفون: Sarquella-Brugada, Georgia, Martínez-Barrios, Estefanía, Cesar, Sergi, Toro, Rocío, Cruzalegui, José, Greco, Andrea, Díez-Escuté, Nuria, Cerralbo, Patricia, Chipa, Fredy, Arbelo, Elena, Diez-López, Carles, Grazioli, Gonzalo, Balderrábano, Norma, Campuzano, Oscar

المساهمون: Ministerio de Ciencia Tecnología y Telecomunicaciones, La Caixa Foundation

المصدر: BMJ Open Sport & Exercise Medicine ; volume 10, issue 3, page e001852 ; ISSN 2055-7647

الاتاحة: http://dx.doi.org/10.1136/bmjsem-2023-001852
https://syndication.highwire.org/content/doi/10.1136/bmjsem-2023-001852

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9

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

المؤلفون: Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Skoric-Milosavljevic, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bezieau, Stephane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuno, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jorgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphael P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frederic, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kaeaeb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.

المصدر: Genetics in Medicine. 23(1):47-58

مصطلحات موضوعية: variant interpretation, LQTS, Brugada, ACMG/AMP guidelines

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-175470
https://doi.org/10.1038/s41436-020-00946-5
https://umu.diva-portal.org/smash/get/diva2:1472613/FULLTEXT02.pdf

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10

Academic Journal

Interpreting the actionable clinical role of rare variants associated with short QT syndrome.

المؤلفون: Martínez-Barrios, Estefanía, Greco, Andrea, Cruzalegui, José, Cesar, Sergi, Díez-Escuté, Nuria, Cerralbo, Patricia, Chipa, Fredy, Zschaeck, Irene, Slanovic, Leonel, Mangas, Alipio, Toro, Rocío, Brugada, Josep, Sarquella-Brugada, Georgia, Campuzano, Oscar

المصدر: Human Genetics; Dec2024, Vol. 143 Issue 12, p1499-1508, 10p

مصطلحات موضوعية: GENETIC carriers, MEDICAL genetics, MEDICAL genomics, GENETIC testing, GENETIC variation

11

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

المؤلفون: Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G., Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L., Mazzanti, Andrea, Beckmann, Britt M., Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D., Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A., Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E., Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J., Bos, J. Martijn, Sarquella-Brugada, Georgia, Campuzano, Oscar, Platonov, Pyotr G., Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Andersen, Peter M., 1962, Mueller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribases, Marta, Aung, Tin, Khor, Chiea C., Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J. Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D., Antzelevitch, Charles, Roden, Dan M., Saenen, Johan, Borggrefe, Martin, Odening, Katja E., Ellinor, Patrick T., Tfelt-Hansen, Jacob, Skinner, Jonathan R., van den Berg, Maarten P., Olesen, Morten Salling, Brugada, Josep, Brugada, Ramon, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R., Rydberg, Annika, Aiba, Takeshi, Kaeaeb, Stefan, Priori, Silvia G., Guicheney, Pascale, Tan, Hanno L., Newton-Cheh, Christopher, Ackerman, Michael J., Schwartz, Peter J., Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W. T., Bezzina, Connie R.

المصدر: Circulation. 142(4):324-338

مصطلحات موضوعية: genome-wide association study, inheritance patterns, long QT syndrome

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-174908
https://doi.org/10.1161/CIRCULATIONAHA.120.045956
https://umu.diva-portal.org/smash/get/diva2:1466263/FULLTEXT01.pdf

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12

Academic Journal

miR-16-5p Suppression Protects Human Cardiomyocytes against Endoplasmic Reticulum and Oxidative Stress-Induced Injury

المؤلفون: Toro Cebada, Rocío, Perez-Serra, Alexandra, Mangas Rojas, Alipio, Campuzano, Oscar, Sarquella-Brugada, Georgia, Quezada‑Feijoo, Maribel, Ramos, Mónica, Alcalá Díaz-Mor, Martín., Carrera, Esther., García-Padilla, Carlos, Franco, Diego, Bonet Martínez, Fernando

المساهمون: Universidad San Pablo-CEU. Facultad de Farmacia, Grupo de Metabolismo y Función Vascular (MET-VASC)

مصطلحات موضوعية: miR-16-5p, Ischemic dilated cardiomyopathy, Reactive oxygen species, Endoplasmic reticulum stress, ATF6

وصف الملف: application/pdf

Relation: International Journal of Molecular Sciences; Eiuropean Regional Development Fund (ERDF) Integrated Territorial Initiative (ITI PI0048-2017 and ITI0033_2019), a clinical research grant from the Spanish Society of Cardiology for Basic Research in cardiology (PI0012_2019), Plan Propio de INIBICA (PI-INBICA 2019-13).; Toro, R.; Pérez-Serra, A.; Mangas, A.; Campuzano, O.; Sarquella-Brugada, G.; Quezada-Feijoo, M.; Ramos, M.; Alcalá, M.; Carrera, E.; García-Padilla, C.; et al.miR-16-5p Suppression Protects Human Cardiomyocytes against Endoplasmic Reticulumand Oxidative Stress-Induced Injury. Int. J. Mol. Sci. 2022, 23, 1036. https://doi.org/ 10.3390/ijms23031036; http://hdl.handle.net/10637/14697

الاتاحة: http://hdl.handle.net/10637/14697
https://doi.org/10.3390/ijms23031036

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13

Academic Journal

The Role of MicroRNAs in Dilated Cardiomyopathy: New Insights for an Old Entity

المؤلفون: Alonso Villa, Elena, Bonet Martínez, Fernando, Hernandez-Torres, Francisco, Campuzano, Oscar, Sarquella-Brugada, Georgia, Quezada‑Feijoo, Maribel, Ramos, Mónica, Mangas Rojas, Alipio, Toro Cebada, Rocío

المساهمون: Medicina

المصدر: International Journal of Molecular Sciences, Vol. 23, Núm. 21

مصطلحات موضوعية: dilated cardiomyopathy, microRNA, inflammation, reticulum endoplasmic stress, oxidative stress, apoptosis, autophagia, fibrosis, molecular pathways, etiology

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/Junta de Andalucía//PI0012-2019; info:eu-repo/grantAgreement/Junta de Andalucía//PI 0048-2017/ES/APLICACIÓN DE LA TRANSCRIPTÓMICA EN EL ABORDAJE DIAGNÓSTICO- TERAPÉUTICO DE LA MIOCARDIOPATÍA DILATADA FAMILIAR: APROXIMACIÓN A LA MEDICINA DE PRECISIÓN CARDIOVASCULAR/; info:eu-repo/grantAgreement/Junta de Andalucía//PI0017-2019; http://hdl.handle.net/10498/29547

الاتاحة: http://hdl.handle.net/10498/29547
https://doi.org/10.3390/ijms232113573

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14

Academic Journal

A microRNA Signature for the Diagnosis of Statins Intolerance

المؤلفون: Mangas Rojas, Alipio, Perez-Serra, Alexandra, Bonet Martínez, Fernando, Muñiz, Ovidio, Fuentes, Francisco, Gonzalez-Estrada, Aurora, Campuzano, Oscar, Rodriguez Roca, Juan Sebastian, Alonso Villa, Elena, Toro Cebada, Rocío

المساهمون: Medicina

المصدر: International Journal of Molecular Sciences, Vol. 23, Núm. 15

مصطلحات موضوعية: circulating microRNAs, statin intolerance, biomarkers, atherosclerotic cardiovascular diseases, statins-adverse myalgia symptoms

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/Junta de Andalucía//PI 0048-2017/ES/APLICACIÓN DE LA TRANSCRIPTÓMICA EN EL ABORDAJE DIAGNÓSTICO- TERAPÉUTICO DE LA MIOCARDIOPATÍA DILATADA FAMILIAR: APROXIMACIÓN A LA MEDICINA DE PRECISIÓN CARDIOVASCULAR/; info:eu-repo/grantAgreement/Junta de Andalucía//PI0017-2019; info:eu-repo/grantAgreement/Junta de Andalucía//PI0012-2019; http://hdl.handle.net/10498/28005

الاتاحة: http://hdl.handle.net/10498/28005
https://doi.org/10.3390/ijms23158146

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