Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Clara Ruiz-Ponte"'
Autor:
C. Fernández-Rozadilla, M. Álvarez-Barona, I. Quintana, A. López-Novo, J. Amigo, J. M. Cameselle-Teijeiro, E. Roman, D. Gonzalez, X. Llor, L. Bujanda, X. Bessa, R. Jover, F. Balaguer, A. Castells, S. Castellví-Bel, G. Capellá, A. Carracedo, L. Valle, Clara Ruiz-Ponte
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop the disease. In thi
Externí odkaz:
https://doaj.org/article/1a336233f77f4df2a8dd367041fb7916
Autor:
Clare Bycroft, Ceres Fernandez-Rozadilla, Clara Ruiz-Ponte, Inés Quintela, Ángel Carracedo, Peter Donnelly, Simon Myers
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
The Iberian Peninsula has a complex history. Here, the authors analyse the genetic structure of the modern Iberian population at fine scale, revealing historical population movements associated with the time of Muslim rule.
Externí odkaz:
https://doaj.org/article/2f1caba003dd4a0d9be6caf54cc06a31
Autor:
Ben Kinnersley, Daniel Chubb, Sara E. Dobbins, Matthew Frampton, Stephan Buch, Maria N. Timofeeva, Sergi Castellví-Bel, Susan M. Farrington, Asta Forsti, Jochen Hampe, Kari Hemminki, Robert M. W. Hofstra, Emma Northwood, Claire Palles, Manuela Pinheiro, Clara Ruiz-Ponte, Clemens Schafmayer, Manuel R. Teixeira, Helga Westers, Tom van Wezel, D. Timothy Bishop, Ian Tomlinson, Malcolm G. Dunlop, Richard S. Houlston
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-3 (2016)
Externí odkaz:
https://doaj.org/article/3995a0ed53f04657ae7904007a97225c
Autor:
Víctor Lorca, Daniel Rueda, Lorena Martín-Morales, Carmen Poves, María Jesús Fernández-Aceñero, Clara Ruiz-Ponte, Patricia Llovet, David Marrupe, Vanesa García-Barberán, Beatriz García-Paredes, Pedro Pérez-Segura, Miguel de la Hoya, Eduardo Díaz-Rubio, Trinidad Caldés, Pilar Garre
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0187312 (2017)
The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent it is implicated in familial CRC susceptibility. Partially inactivating variant, NM_024642.4:c.907G>A, p.(D303N), has been previously det
Externí odkaz:
https://doaj.org/article/fd09141029544588ac11fc1e88cef1b0
Autor:
Ceres Fernández-Rozadilla, Miriam Alvarez-Barona, Esther Schamschula, Sahra Bodo, Anael Lopez-Novo, Andres Dacal, Consuelo Calviño-Costas, Angel Lancho, Jorge Amigo, Xabier Bello, Jose Manuel Cameselle-Teijeiro, Angel Carracedo, Chrystelle Colas, Martine Muleris, Katharina Wimmer, Clara Ruiz-Ponte
Publikováno v:
Cancers, Vol 11, Iss 8, p 1081 (2019)
Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, caused by heterozygous mutations in the mismatch repair (MMR) genes. Biallelic mutations in these genes lead however, to constitutive mismatch repair deficiency (CMMR
Externí odkaz:
https://doaj.org/article/cbfe801554d04511b2da14763479d857
Autor:
Luis M Real, Agustín Ruiz, Javier Gayán, Antonio González-Pérez, María E Sáez, Reposo Ramírez-Lorca, Francisco J Morón, Juan Velasco, Ruth Marginet-Flinch, Eva Musulén, José M Carrasco, Concha Moreno-Rey, Enrique Vázquez, Manuel Chaves-Conde, Jose A Moreno-Nogueira, Manuel Hidalgo-Pascual, Eduardo Ferrero-Herrero, Sergi Castellví-Bel, Antoni Castells, Ceres Fernandez-Rozadilla, Clara Ruiz-Ponte, Angel Carracedo, Beatriz González, Sergio Alonso, Manuel Perucho
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e101178 (2014)
BackgroundNon-hereditary colorectal cancer (CRC) is a complex disorder resulting from the combination of genetic and non-genetic factors. Genome-wide association studies (GWAS) are useful for identifying such genetic susceptibility factors. However,
Externí odkaz:
https://doaj.org/article/5263b15232e048de89f66f787f7df1c3
Autor:
Barbara Pardini, Paolo Verderio, Sara Pizzamiglio, Carmela Nici, Maria Valeria Maiorana, Alessio Naccarati, Ludmila Vodickova, Veronika Vymetalkova, Silvia Veneroni, Maria Grazia Daidone, Fernando Ravagnani, Tiziana Bianchi, Luis Bujanda, Angel Carracedo, Antoni Castells, Clara Ruiz-Ponte, Hans Morreau, Kimberley Howarth, Angela Jones, Sergi Castellví-Bel, Li Li, Ian Tomlinson, Tom Van Wezel, Pavel Vodicka, Paolo Radice, Paolo Peterlongo, EPICOLON Consortium
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e85538 (2014)
The common -652 6N del variant in the CASP8 promoter (rs3834129) has been described as a putative low-penetrance risk factor for different cancer types. In particular, some studies suggested that the deleted allele (del) was inversely associated with
Externí odkaz:
https://doaj.org/article/31af3978956a4ba7a787743173a3331b
Autor:
Victoria Gonzalo, Juan Jose Lozano, Virginia Alonso-Espinaco, Leticia Moreira, Jenifer Muñoz, Maria Pellisé, Sergi Castellví-Bel, Xavier Bessa, Montserrat Andreu, Rosa M Xicola, Xavier Llor, Clara Ruiz-Ponte, Angel Carracedo, Rodrigo Jover, Antoni Castells, Francesc Balaguer, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e91033 (2014)
Epigenetics are thought to play a major role in the carcinogenesis of multiple sporadic colorectal cancers (CRC). Previous studies have suggested concordant DNA hypermethylation between tumor pairs. However, only a few methylation markers have been a
Externí odkaz:
https://doaj.org/article/f0a32a8c0b34487d9f0f0fd5034ba26d
Autor:
Anna Abulí, Luis Bujanda, Jenifer Muñoz, Stephan Buch, Clemens Schafmayer, Maria Valeria Maiorana, Silvia Veneroni, Tom van Wezel, Tao Liu, Helga Westers, Clara Esteban-Jurado, Teresa Ocaña, Josep M Piqué, Montserrat Andreu, Rodrigo Jover, Angel Carracedo, Rosa M Xicola, Xavier Llor, Antoni Castells, EPICOLON Consortium, Malcolm Dunlop, Robert Hofstra, Annika Lindblom, Juul Wijnen, Paolo Peterlongo, Jochen Hampe, Clara Ruiz-Ponte, Sergi Castellví-Bel
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e95022 (2014)
Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most
Externí odkaz:
https://doaj.org/article/346b83e22aca4a92b69ec2e743525b29
Autor:
Simone Picelli, Justo Lorenzo Bermejo, Jenny Chang-Claude, Michael Hoffmeister, Ceres Fernández-Rozadilla, Angel Carracedo, Antoni Castells, Sergi Castellví-Bel, Memebers of EPICOLON Consortium-Gastrointestinal Oncology Group of the Spanish Gastroenterological Association, Alessio Naccarati, Barbara Pardini, Ludmila Vodickova, Heiko Müller, Bente A Talseth-Palmer, Geoffrey Stibbard, Paolo Peterlongo, Carmela Nici, Silvia Veneroni, Li Li, Graham Casey, Albert Tenesa, Susan M Farrington, Ian Tomlinson, Victor Moreno, Tom van Wezel, Juul Wijnen, Malcolm Dunlop, Paolo Radice, Rodney J Scott, Pavel Vodicka, Clara Ruiz-Ponte, Hermann Brenner, Stephan Buch, Henry Völzke, Jochen Hampe, Clemens Schafmayer, Annika Lindblom
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e72091 (2013)
In the last four years, Genome-Wide Association Studies (GWAS) have identified sixteen low-penetrance polymorphisms on fourteen different loci associated with colorectal cancer (CRC). Due to the low risks conferred by known common variants, most of t
Externí odkaz:
https://doaj.org/article/e13184ab44794a9293d99fbc21b12660