Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Eladio A, Velasco"'
Autor:
Cristian Andrés Carmona-Carmona, Pablo Zini, Eladio A. Velasco-Sampedro, Irene Cózar-Castellano, Germán Perdomo, María J. Caloca
Publikováno v:
Molecules, Vol 29, Iss 22, p 5301 (2024)
Glucose homeostasis is a complex process regulated by multiple organs and hormones, with insulin playing a central role. Recent evidence underscores the role of small GTP-binding proteins, particularly Rac1, in regulating insulin secretion and glucos
Externí odkaz:
https://doaj.org/article/1502bb39abe84afaa11ab3dfb31c4f86
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Externí odkaz:
https://doaj.org/article/89eb2fd0be6e4e738b321111dd0bb6ea
Autor:
Linda Gailite, Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Dmitrijs Rots, Madara Kreile, Eladio A. Velasco
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
A large fraction of DNA variants impairs pre-mRNA splicing in human hereditary disorders. Crigler-Najjar syndrome (CNS) is characterized by a severe unconjugated hyperbilirubinemia caused by variants in the UGT1A1 gene. We previously reported one CNS
Externí odkaz:
https://doaj.org/article/1c8b08301f3148cc96b7f111e1d9ec0f
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:
Eladio A. Velasco, Cristina Miner, Franco Pagani, Enrique Lastra, Eva Esteban-Cardeñosa, Lucía Pérez-Cabornero, Mercedes Durán, Mar Infante, Alberto Acedo, David J. Sanz
Purpose: Most BRCA1/2 mutations are of unknown clinical relevance. An increasing amount of evidence indicates that there can be deleterious effects through the disruption of the splicing process. We have investigated the effect of aberrant splicing o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d7e0501883afe9bc88c7f12c6b81f53
https://doi.org/10.1158/1078-0432.c.6519404
https://doi.org/10.1158/1078-0432.c.6519404
Autor:
Eladio A. Velasco, Cristina Miner, Franco Pagani, Enrique Lastra, Eva Esteban-Cardeñosa, Lucía Pérez-Cabornero, Mercedes Durán, Mar Infante, Alberto Acedo, David J. Sanz
Supplementary Data from A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23a76f179c3f36324ec15fac0ecc7128
https://doi.org/10.1158/1078-0432.22442735.v1
https://doi.org/10.1158/1078-0432.22442735.v1
Autor:
Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Alberto Acedo, Eladio A. Velasco
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Genetic testing of BRCA1 and BRCA2 identifies a large number of variants of uncertain clinical significance whose functional and clinical interpretations pose a challenge for genetic counseling. Interestingly, a relevant fraction of DNA variants can
Externí odkaz:
https://doaj.org/article/f2daad1698fa42b398486ddd1bc06bcd
Autor:
Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability relat
Externí odkaz:
https://doaj.org/article/874715fc58564df0a90263bad61671ec
Autor:
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006691 (2017)
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasin
Externí odkaz:
https://doaj.org/article/8e152c8511784c55b6c4c1bc8becae93
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)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::72ccdf618e98ac8a221ca8ad86b00889
https://pubmed.ncbi.nlm.nih.gov/36139699
https://pubmed.ncbi.nlm.nih.gov/36139699