Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Clara Ruiz-Ponte"'
Autor:
Manuela Pinheiro, Manuel R. Teixeira, Helga Westers, Tom van Wezel, D. Timothy Bishop, Kari Hemminki, Emma Northwood, Daniel Chubb, Ben Kinnersley, Richard S. Houlston, Robert M.W. Hofstra, Clemens Schafmayer, Claire Palles, Jochen Hampe, Susan M. Farrington, Malcolm G. Dunlop, Matthew Frampton, Clara Ruiz-Ponte, Maria Timofeeva, Asta Försti, Sara E. Dobbins, Ian Tomlinson, Stephan Buch, Sergi Castellví-Bel
Publikováno v:
Nature Communications
Nature Communications, Vol 7, Iss 1, Pp 1-3 (2016)
Nature Communications, 7:10611. Nature Publishing Group
Nature Communications, 7
Nature Communications, Vol 7, Iss 1, Pp 1-3 (2016)
Nature Communications, 7:10611. Nature Publishing Group
Nature Communications, 7
Sill and co-workers1 report that germline variation in semaphorin 4A (SEMA4A) influences colorectal cancer (CRC) risk. This stems from identifying the SEMA4A p.Val78Met variant in one kindred with familial colorectal cancer type X (FCCTX) and subsequ
Autor:
Sneha Bontu, Esther Lee, Francesc Balaguer, Pilar Garre, Brian J. Doyle, John A. Baron, Xavier Bessa, Nathan A. Ellis, Luis Bujanda, Jamie Rawson, Sergi Castellví-Bel, Miguel de la Hoya, Trinidad Caldés, Montserrat Andreu, Polly A. Newcomb, Joan Clofent, Xavier Llor, John D. Potter, Sapna Syngal, Clara Ruiz-Ponte, Antoni Castells, Rosa M. Xicola, Angel Carracedo, Cristina Alenda, Noralane M. Lindor, Rodrigo Jover
Publikováno v:
CARCINOGENESIS
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
We describe an association between TGFBR1 polymorphism rs868 and mismatch repair proficient hereditary colorectal cancers. This polymorphism results in more binding of TGFBR1 to let-7b-5p miRNA, which would result in lower expression of TGFBR1 and th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f04b7e9a9dbc950abb2743608552d6b
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2338
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2338
Autor:
Graham Casey, Henry Völzke, Hermann Brenner, Thomas J. Hudson, Albert Tenesa, David J. Kerr, Clara Ruiz-Ponte, Stephane Ballereau, Luis G. Carvajal-Carmona, Anna Abulí, Jenny Chang-Claude, Lynn Martin, Maggie Gorman, Clemens Schafmayer, Steven Gallinger, John L. Hopper, Ian Tomlinson, Iina Niittymäki, Richard S. Houlston, Simone Picelli, Ella Barclay, Jochen Hampe, Xavier Bessa, Alan M. Pittman, Lauri A. Aaltonen, Susanna von Holst, Auli Karhu, Brent W. Zanke, Malcolm G. Dunlop, Michael Hoffmeister, Polly A. Newcomb, Harry Campbell, Steven Penegar, Sari Tuupanen, Steven J. Lubbe, Annika Lindblom, Axel Walther, Ian Chandler, David Duggan, Paul D.P. Pharoah, Peter Broderick, Mark A. Jenkins, Sergi Castellví-Bel, Susan M. Farrington, David H. Brewster, Thibaud Koessler
Publikováno v:
Gut. 62:871-881
OBJECTIVE: Colorectal cancer (CRC) has a substantial heritable component. Common genetic variation has been shown to contribute to CRC risk. A study was conducted in a large multi-population study to assess the feasibility of CRC risk prediction usin
Autor:
Stefan Schreiber, Markus M. Lerch, Malcolm G. Dunlop, T. van Wezel, Albert Tenesa, Paul D.P. Pharoah, S. Tuupanenx, Clemens Schafmayer, Jwc Ho, Pavel Vodicka, Rodney J. Scott, Koichi Matsuda, Brent W. Zanke, Jochen Hampe, Stephan Buch, Luis G. Carvajal-Carmona, Paolo Radice, Steven Penegar, Lara Lipton, Asta Försti, Magdalena Echeverry, Henry Völzke, Ian Tomlinson, Juul T. Wijnen, Pak C. Sham, Harry Campbell, C. A. Schmidt, Antoni Castells, Robert M.W. Hofstra, Thibaud Koessler, Yusuke Nakamura, Hans Morreau, Hermann Brenner, Annika Lindblom, I. Niittymäkix, Steve Gallinger, Oliver M. Sieber, Victor Moreno, Peter Devilee, Cristina M. Villanueva, Lauri A. Aaltonen, Angel Carracedo, Peter Broderick, Sergi Castellví-Bel, Jürgen Tepel, Paolo Peterlongo, Kari Hemminki, Richard S. Houlston, Alejandro Vélez, Thomas J. Hudson, Clara Ruiz-Ponte
Publikováno v:
Tomlinson, I P M, Dunlop, M, Campbell, H, Zanke, B, Gallinger, S, Hudson, T, Koessler, T, Pharoah, P D, Niittymaki, I, Tuupanen, S, Aaltonen, L A, Hemminki, K, Lindblom, A, Forsti, A, Sieber, O, Lipton, L, van Wezel, T, Morreau, H, Wijnen, J T, Devilee, P, Matsuda, K, Nakamura, Y, Castellvi-Bel, S, Ruiz-Ponte, C, Castells, A, Carracedo, A, Ho, J W C, Sham, P, Hofstra, R M W, Vodicka, P, Brenner, H, Hampe, J, Schafmayer, C, Tepel, J, Schreiber, S, Volzke, H, Lerch, M M, Schmidt, C A, Buch, S, Moreno, V, Villanueva, C M, Peterlongo, P, Radice, P, Echeverry, M M, Velez, A, Carvajal-Carmona, L, Scott, R, Penegar, S, Broderick, P, Tenesa, A & Houlston, R S 2010, ' COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer ', British Journal of Cancer, vol. 102, no. 2, pp. 447-454 . https://doi.org/10.1038/sj.bjc.6605338
Europe PubMed Central
British journal of cancer, vol 102, iss 2
British Journal of Cancer
British Journal of Cancer, 102(2), 447-454
Recercat. Dipósit de la Recerca de Catalunya
instname
British Journal of Cancer; Vol 102
British Jounal of Cancer, 102(2), 447-454. Nature Publishing Group
Dipòsit Digital de la UB
Universidad de Barcelona
Europe PubMed Central
British journal of cancer, vol 102, iss 2
British Journal of Cancer
British Journal of Cancer, 102(2), 447-454
Recercat. Dipósit de la Recerca de Catalunya
instname
British Journal of Cancer; Vol 102
British Jounal of Cancer, 102(2), 447-454. Nature Publishing Group
Dipòsit Digital de la UB
Universidad de Barcelona
It is now recognised that a part of the inherited risk of colorectal cancer (CRC) can be explained by the co-inheritance of low-penetrance genetic variants. The accumulated experience to date in identifying these variants has served to highlight diff
Autor:
Cristina Alenda, Rosa M. Xicola, Rodrigo Jover, Rafael de Cid, Xavier Bessa, Artemio Payá, Montserrat Andreu, Antoni Castells, Josep M. Piqué, Clara Ruiz-Ponte, Jenifer Muñoz, Victoria Gonzalo, Elisenda Pons, Angel Carracedo, Francesc Balaguer, Xavier Llor, Sergi Castellví-Bel
Publikováno v:
Carcinogenesis. 28:1687-1691
ARLTS1 was recently identified in chromosome 13q14 as a tumor suppressor gene of the ADP-ribosylation factor family with pro-apoptotic characteristics. Additionally, one of its genetic variants (W149X) was hypothesized to be a polymorphism associated
Publikováno v:
Cancer. 92:2920-2926
BACKGROUND The highly polymorphic HRAS1 minisatellite locus, located 1 kilobase downstream from the H-ras1 gene, has been associated with increased susceptibility to a variety of cancers. Microsatellite instability (MI), another molecular abnormality
Autor:
Juan Clofent, Josep M. Piqué, Maria Rodriguez-Soler, Francesc Balaguer, Clara Ruiz-Ponte, Joaquín Cubiella, Rodrigo Jover, Juan José Lozano, Luis Bujanda, David Nicolás-Pérez, Xavier Bessa, Jenifer Muñoz, Antoni Castells, Rosa M. Xicola, Josep Maria Reñe, Anna Abulí, Clara Esteban-Jurado, Angel Carracedo, Montserrat Andreu, Sergi Castellví-Bel, Xavier Llor, Ceres Fernandez-Rozadilla, Juan Diego Morillas
Publikováno v:
Carcinogenesis. 34(10)
Colorectal cancer (CRC) is the second leading cause of cancer-related death among men and women in Western countries. Once a tumour develops, a differentiated prognosis could be determined by lifestyle habits or inherited and somatic genetic factors.
Autor:
María Dolores, Giráldez, Adriana, López-Dóriga, Luis, Bujanda, Anna, Abulí, Xavier, Bessa, Ceres, Fernández-Rozadilla, Jenifer, Muñoz, Miriam, Cuatrecasas, Rodrigo, Jover, Rosa M, Xicola, Xavier, Llor, Josep M, Piqué, Angel, Carracedo, Clara, Ruiz-Ponte, Angel, Cosme, José María, Enríquez-Navascués, Victor, Moreno, Montserrat, Andreu, Antoni, Castells, Francesc, Balaguer, Sergi, Castellví-Bel, Antonio, Naranjo
Publikováno v:
Publons
Colorectal cancer (CRC) is the second most common cancer in Western countries. Hereditary forms only correspond to 5% of CRC burden. Recently, genome-wide association studies have identified common low-penetrant CRC genetic susceptibility loci. Early
Autor:
Víctor Manuel Barberá, Luis Bujanda, Clara Ruiz-Ponte, Lucía Pérez-Carbonell, Ángel Segura, Carla Guarinos, Ana Beatriz Sánchez-Heras, Cristina Alenda, Rafael Lázaro, Montserrat Andreu, María Isabel Castillejo, Artemio Payá, Xavier Llor, Juan Clofent, Rodrigo Jover, Ana Martínez-Cantó, Angel Carracedo, José Luis Soto, Cecilia Egoavil, Antoni Castells, Enrique Ochoa, Adela Castillejo
Publikováno v:
BMC MED GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
BMC MEDICAL GENETICS
r-FISABIO. Repositorio Institucional de Producción Científica
BMC Medical Genetics
Addi. Archivo Digital para la Docencia y la Investigación
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
BMC Medical Genetics, Vol 12, Iss 1, p 12 (2011)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Recercat. Dipósit de la Recerca de Catalunya
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
BMC MEDICAL GENETICS
r-FISABIO. Repositorio Institucional de Producción Científica
BMC Medical Genetics
Addi. Archivo Digital para la Docencia y la Investigación
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
BMC Medical Genetics, Vol 12, Iss 1, p 12 (2011)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Recercat. Dipósit de la Recerca de Catalunya
Background Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports
Autor:
Jesper Jurlander, Angel Carracedo, Gunnar Juliusson, Anna Enjuanes, Ana Vega, Emili Montserrat, Clara Ruiz-Ponte, Richard Rosenquist, Karin E. Smedby, Daniel Catovsky, Elias Campo, Dalemari Crowther-Swanepoel, Mahmoud Mansouri, Richard S. Houlston
Publikováno v:
British journal of haematology. 150(4)
P>A recent genome wide association study of chronic lymphocytic leukaemia (CLL) provided evidence that common variation at 2q13 (rs17483466), 2q37.1 (rs13397985), 6p25.3 (rs872071), 11q24.1 (rs735665), 15q23 (rs7176508) and 19q13.32 (rs11083846) affe