Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Jesús del Valle"'
Autor:
Paula Rofes, Marta Pineda, Lídia Feliubadaló, Mireia Menéndez, Rafael de Cid, Carolina Gómez, Eva Montes, Gabriel Capellá, Joan Brunet, Jesús del Valle, Conxi Lázaro
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Case–control studies have shown an association of BARD1 with hereditary breast and/or ovarian cancer (HBOC) predisposition. BARD1 alternatively spliced isoforms are abundant and some are highly expressed in different cancer types. In addit
Externí odkaz:
https://doaj.org/article/e832dc5f39ae4707b42c6464ddf64fb7
Autor:
Xavier Solanich, Gardenia Vargas-Parra, Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Arnau Antolí, Jesús del Valle, Gemma Rocamora-Blanch, Fernando Setién, Manel Esteller, Simon V. van Reijmersdal, Antoni Riera-Mestre, Joan Sabater-Riera, Gabriel Capellá, Frank L. van de Veerdonk, Ben van der Hoven, Xavier Corbella, Alexander Hoischen, Conxi Lázaro
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
IntroductionLoss-of-function TLR7 variants have been recently reported in a small number of males to underlie strong predisposition to severe COVID-19. We aimed to determine the presence of these rare variants in young men with severe COVID-19.Method
Externí odkaz:
https://doaj.org/article/a40c83c79e0d437386a867c3022a1699
Autor:
Cristina Carrato, Carolina Sanz, Ana María Muñoz-Mármol, Ignacio Blanco, Marta Pineda, Jesús Del Valle, Estela Dámaso, Manel Esteller, Eva Musulen
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4629 (2021)
Biallelic germline mismatch repair (MMR) gene (MLH1, MSH2, MSH6, and PMS2) mutations are an extremely rare event that causes constitutional mismatch repair deficiency (CMMRD) syndrome. CMMRD is underdiagnosed and often debuts with pediatric malignant
Externí odkaz:
https://doaj.org/article/6b911734a5a44fb5ab665b3d2a8412e4
Autor:
Jesús del Valle, Myrna Rivera
Publikováno v:
Mitologías Hoy, Vol 12 (2015)
El análisis presentado tiene dos vertientes que están intrínsecamente ligadas. Por un lado, se ofrece la teoría que le subyace a la construcción del sujeto femenino, y su relación con el patriarcado, en la obra Los soles truncos del dramaturgo
Externí odkaz:
https://doaj.org/article/3bd36512dfa74f2e8cc7bd5e64dc80d4
Publikováno v:
Relaciones Internacionales, Iss 25, Pp 201-203 (2014)
En esta ocasión entrevistamos para la Ventana Social a Dagmary Olívar Graterol y Jesús Del Valle Vélez de la Asociación Cultural YoSoyElOtro. Esta asociación fue fundada en Madrid en el año 2006 y desde entonces lleva a cabo proyectos de gesti
Externí odkaz:
https://doaj.org/article/4886643889c34573af85875fc3b6815e
Autor:
Conxi Lázaro, Estela Carrasco, Mónica Salinas, Mar Varela, Elia Grau, Napoleón de la Ossa Merlano, Esther Darder, Ares Solanes, Angela Velasco, Teresa Ramón y Cajal, Silvia Iglesias, Sara González, Jesús del Valle, Marta Pineda, Noemí Tuset, Gemma Llort, Judith Balmaña, José Marcos Moreno-Cabrera, Barbara Rivera, Carolina Gómez, Matilde Navarro, Gabriel Capellá, Xavier Matias-Guiu, Joan Brunet, Paula Rofes, Nuria Dueñas
Publikováno v:
JOURNAL OF MOLECULAR DIAGNOSTICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome responsible for 1% of colorectal cancers (CRCs). Up to 90% of classic FAPs are caused by inactivating mutations in APC, and mosaicism has been previously reported in 20% of de nov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08fa2ef9056fbf06be8d827cdd137655
https://doi.org/10.1016/j.jmoldx.2021.07.024
https://doi.org/10.1016/j.jmoldx.2021.07.024
Autor:
Rebeca Sanz-Pamplona, Conxi Lázaro, Tirso Pons, Sandra García-Mulero, Laura Valle, Jesús del Valle, Elsa Ezquerro, Lorena Magraner-Pardo, Pilar Mur, Gabriel Capellá, Victor Moreno, Anna Díez-Villanueva
Publikováno v:
Eur J Hum Genet
Germline variants that affect the proofreading activity of polymerases epsilon (POLE) and delta (POLD1) predispose to colorectal adenomas and carcinomas, among other cancers. All cancer-associated pathogenic variants reported to date consist of non-d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b0d5a251f1761ac8f98e36c2c02e544
https://doi.org/10.1038/s41431-021-00926-6
https://doi.org/10.1038/s41431-021-00926-6
Autor:
Pau M. Munoz-Torres, Joan Brunet, Rebeca Sanz-Pamplona, August Vidal, Gemma Llort, Esther Darder, Victor Moreno, Teresa Ramón y Cajal, Laura Valle, Judith Balmaña, Marta Pineda, Tirso Pons, Xavier Matias-Guiu, Jesús del Valle, Lorena Magraner-Pardo, Rosa Aligué, Pilar Mur, Giacomo Cinnirella, Josep M. Piulats, Elia Grau, Lídia Feliubadaló, Sami Belhadj, Adriana Lopez-Doriga, Matilde Navarro, Conxi Lázaro, Sandra García-Mulero, Judit Sanz, Gabriel Capellá, Edgar Martin-Ramos
Publikováno v:
Scientia
Genetics in Medicine
Digital.CSIC. Repositorio Institucional del CSIC
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Genetics in Medicine
Digital.CSIC. Repositorio Institucional del CSIC
instname
Dipòsit Digital de la UB
Universidad de Barcelona
[Purpose]: Germline pathogenic variants in the exonuclease domain (ED) of polymerases POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC), endometrial tumors, and other malignancies, and exhibit increased mutation rate and highly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359c40a1763da19d13d5833ef08af076
https://doi.org/10.1038/s41436-020-0922-2
https://doi.org/10.1038/s41436-020-0922-2
Autor:
Conxi Lázaro, Mireia Menéndez, Eva Tornero, Marta Pineda, Jesús del Valle, Lídia Feliubadaló, Paula Rofes, Mónica Salinas, Gardenia Vargas-Parra, Alex Teulé, Joan Brunet, Eva Montes, Carolina Gómez, Sara González, Gabriel Capellá, Ares Solanes
Publikováno v:
The Journal of Molecular Diagnostics. 22:1453-1468
RNA analyses are a potent tool to identify spliceogenic effects of DNA variants, although they are time-consuming and cannot always be performed. We present splicing assays of 20 variants that represent a variety of mutation types in 10 hereditary ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e38d9683dd38df3caaf3490f26c20f3
https://doi.org/10.1016/j.jmoldx.2020.09.007
https://doi.org/10.1016/j.jmoldx.2020.09.007
Autor:
Marta Domenech, Cristina Carrato, Conxi Lázaro, Gabriel Capellá, Angel Izquierdo, Jesús del Valle, Joan Brunet, Matilde Navarro, Marta Pineda, Nuria Dueñas, Ares Solanes, Magda Pujol, Elia Grau
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 106:318-325
Context Lynch syndrome (LS) is the most common inherited colorectal and endometrial cancer syndrome, caused by germline mutations in DNA mismatch repair (MMR) genes. It is also characterized by an increased risk of other tumors with lower prevalence,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8ee31dc04a53b880e08ba329064536
https://doi.org/10.1210/clinem/dgaa833
https://doi.org/10.1210/clinem/dgaa833