Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Susana Gómez-Barrero"'
Autor:
Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, María José Caloca, Susana Gómez-Barrero, Eladio A. Velasco
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
A relevant fraction of BRCA2 variants is associated with splicing alterations and with an increased risk of hereditary breast and ovarian cancer (HBOC). In this work, we have carried out a thorough study of variants from BRCA2 exons 14 and 15 reporte
Externí odkaz:
https://doaj.org/article/282e5669a8654b8e8853dedf1b39d3c5
Autor:
Alberto, Valenzuela-Palomo, Lara, Sanoguera-Miralles, Elena, Bueno-Martínez, Ada, Esteban-Sánchez, Inés, Llinares-Burguet, Alicia, García-Álvarez, Pedro, Pérez-Segura, Susana, Gómez-Barrero, Miguel, de la Hoya, Eladio A, Velasco-Sampedro
Publikováno v:
Cancers. 14(18)
Autor:
Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Ada Esteban-Sánchez, Inés Llinares-Burguet, Alicia García-Álvarez, Pedro Pérez-Segura, Susana Gómez-Barrero, Miguel de la Hoya, Eladio A. Velasco-Sampedro
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Cancers; Volume 14; Issue 18; Pages: 4541
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Cancers; Volume 14; Issue 18; Pages: 4541
PALB2 loss-of-function variants are associated with significant increased risk of breast cancer as well as other types of tumors. Likewise, splicing disruptions are a common mechanism of disease susceptibility. Indeed, we previously showed, by minige
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::460668b18447c16827e0cf17cde97746
http://hdl.handle.net/10261/282544
http://hdl.handle.net/10261/282544
Autor:
Alberto, Valenzuela-Palomo, Elena, Bueno-Martínez, Lara, Sanoguera-Miralles, Víctor, Lorca, Eugenia, Fraile-Bethencourt, Ada, Esteban-Sánchez, Susana, Gómez-Barrero, Sara, Carvalho, Jamie, Allen, Alicia, García-Álvarez, Pedro, Pérez-Segura, Leila, Dorling, Douglas F, Easton, Peter, Devilee, Maaike Pg, Vreeswijk, Miguel, de la Hoya, Eladio A, Velasco
Publikováno v:
The Journal of pathology. 256(3)
PALB2 loss-of-function variants confer high risk of developing breast cancer. Here we present a systematic functional analysis of PALB2 splice-site variants detected in approximately 113,000 women in the large-scale sequencing project Breast Cancer A
Autor:
Eugenia Fraile-Bethencourt, Susana Gómez-Barrero, Mar Infante, Alberto Valenzuela-Palomo, Eladio Velasco, Enrique Lastra, Beatriz Díez-Gómez, Germán Marcos, Mercedes Durán
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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[Purpose]: Promoter mutations may affect transcription and can be associated with human diseases. However, the promoters of the breast cancer (BC) genes are not regularly screened. Our goal was to investigate the BRCA2 promoter in order to study a po
Autor:
Julio Alvarez, Concepción Porrero, Susana Gómez-Barrero, Lucas Domínguez, Teresa García-Seco, José M. Cámara, Marta Pérez-Sancho, Nerea García
Publikováno v:
Research in veterinary science. 128
Feral pigeons have increased in urban settings worldwide becoming a potential health risk for humans and other animals. Control and surveillance programs are essential to prevent the possible transmission of zoonotic pathogens carried by pigeons. A s
Autor:
Maria Luisa de la Cruz, María Ugarte-Ruiz, Susana Gómez-Barrero, Inés de Cárdenas, Lucas Domínguez, José F. Fernández-Garayzábal
Publikováno v:
Journal of Microbiological Methods. 119:147-153
This study evaluates an improved scheme for Campylobacter genotyping based on the combination of true and questionable CRISPR (clustered regularly interspaced short palindromic repeats) elements. A total of 180 Campylobacter strains (Campylobacter je
Autor:
Lutz Geue, Lucas Domínguez, Rafael Cantón, Susana Gómez-Barrero, Stefanie A. Barth, M. Concepción Porrero, Christian Gortázar, Carmen Bárcena, Aránzazu Valverde, Katharina Hamm, Christian Menge, Julio Alvarez, Adriana Cabal
Publikováno v:
Microbiology and Immunology. 59:433-442
Cattle are reservoirs of enterohemorrhagic Escherichia coli; however, their role in the epidemiology of other pathogenic E. coli remains undefined. A new set of quantitative real-time PCR assays for the direct detection and quantification of nine vir
Autor:
Lucas Domínguez, Sergio Sánchez, Susana Gómez-Barrero, M. Concepción Porrero, Dolors Vidal, Santiago Lavín, Emmanuel Serrano, José-Francisco Fernández-Garayzabal, Ignasi Marco, Pedro Fernández-Llario, Gregorio Mentaberre, Nora Navarro-Gonzalez, Encarna Casas-Díaz, Ana Mateos
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Methicillin-resistant Staphylococcus aureus (MRSA) is a life-threatening pathogen in humans and its presence in animals is a public health concern. The aim of this study was to measure the prevalence of MRSA in free-living wild animals. Samples from
Autor:
María García, M.C. Comerón, Susana Gómez-Barrero, Trudy M. Wassenaar, Julio Alvarez, Lucas Domínguez, María Ugarte-Ruiz, María Concepción Porrero
Publikováno v:
Journal of Applied Microbiology. 113:200-208
Aims: To identify the optimal method for detection of thermophilic Campylobacter at various stages in the food chain, three culture-dependent (direct plating, Bolton and Preston enrichment) and one molecular method (qPCR) were compared for three matr