Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Alberto Valenzuela-Palomo"'
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:
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:
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
Autor:
Elena Bueno‐Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, Jamie Allen, Alicia García‐Álvarez, Pedro Pérez‐Segura, Mercedes Durán, Douglas F Easton, Peter Devilee, Maaike PG Vreeswijk, Miguel de la Hoya, Eladio A Velasco‐Sampedro
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
The Journal of Pathology, 258(1), 83-101. WILEY
instname
The Journal of Pathology, 258(1), 83-101. WILEY
The ataxia telangiectasia-mutated (ATM) protein is a major coordinator of the DNA damage response pathway. ATM loss-of-function variants are associated with 2-fold increased breast cancer risk. We aimed at identifying and classifying spliceogenic ATM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fbed054193fc8de9b8884d6a963382
Autor:
Lara, Sanoguera-Miralles, Elena, Bueno-Martínez, Alberto, Valenzuela-Palomo, Ada, Esteban-Sánchez, Inés, Llinares-Burguet, Pedro, Pérez-Segura, Alicia, García-Álvarez, Miguel, de la Hoya, Eladio A, Velasco-Sampedro
Publikováno v:
Cancers. 14(12)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3574a789bfb0bddb8498968c6b501597
https://pubmed.ncbi.nlm.nih.gov/35740625
https://pubmed.ncbi.nlm.nih.gov/35740625
Autor:
Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Inés Llinares-Burguet, Pedro Pérez-Segura, Alicia García-Álvarez, Miguel de la Hoya, Eladio A. Velasco-Sampedro
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Cancers; Volume 14; Issue 12; Pages: 2960
instname
Cancers; Volume 14; Issue 12; Pages: 2960
RAD51C loss-of-function variants are associated with an increased risk of breast and ovarian cancers. Likewise, splicing disruptions are a frequent mechanism of gene inactivation. Taking advantage of a previous splicing-reporter minigene with exons 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a08efc1652da86ebe3076a3520d43f79
http://hdl.handle.net/10261/281637
http://hdl.handle.net/10261/281637
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
instname
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85c78dad97429e2e623c8c41513d4ed1
https://pubmed.ncbi.nlm.nih.gov/34846068
https://pubmed.ncbi.nlm.nih.gov/34846068
Autor:
Lara, Sanoguera-Miralles, Alberto, Valenzuela-Palomo, Elena, Bueno-Martínez, Patricia, Llovet, Beatriz, Díez-Gómez, María José, Caloca, Pedro, Pérez-Segura, Eugenia, Fraile-Bethencourt, Marta, Colmena, Sara, Carvalho, Jamie, Allen, Douglas F, Easton, Peter, Devilee, Maaike P G, Vreeswijk, Miguel, de la Hoya, Eladio A, Velasco
Publikováno v:
Cancers
Simple Summary Genetic variants in more than 10 genes are known to confer moderate to high risks to breast and/or ovarian cancers (BC/OC). In the framework of the international project BRIDGES, a panel of 34 known or suspected BC/OC genes has been se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5d3d924aaef340d8b3cee2aa845810b
https://pubmed.ncbi.nlm.nih.gov/33333735
https://pubmed.ncbi.nlm.nih.gov/33333735