Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Benjamín Rodríguez-Santiago"'
Autor:
Chiara Cavestro, Francesca Morra, Andrea Legati, Marco D'Amato, Alessia Nasca, Arcangela Iuso, Naomi Lubarr, Jennifer L. Morrison, Patricia G. Wheeler, Clara Serra‐Juhé, Benjamín Rodríguez‐Santiago, Eulalia Turón‐Viñas, Clement Prouteau, Magalie Barth, Susan J. Hayflick, Daniele Ghezzi, Valeria Tiranti, Ivano Di Meo
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1615-1629 (2024)
Abstract Objective COASY, the gene encoding the bifunctional enzyme CoA synthase, which catalyzes the last two reactions of cellular de novo coenzyme A (CoA) biosynthesis, has been linked to two exceedingly rare autosomal recessive disorders, such as
Externí odkaz:
https://doaj.org/article/57f4965baaa6402db85985dc9844f841
Autor:
Judith Reina-Castillón, Roser Pujol, Marcos López-Sánchez, Benjamín Rodríguez-Santiago, Miriam Aza-Carmona, Juan Ramón González, José Antonio Casado, Juan Antonio Bueren, Julián Sevilla, Isabel Badel, Albert Català, Cristina Beléndez, María Ángeles Dasí, Cristina Díaz de Heredia, Jean Soulier, Detlev Schindler, Luis Alberto Pérez-Jurado, Jordi Surrallés
Publikováno v:
Blood Advances, Vol 1, Iss 5, Pp 319-329 (2017)
Abstract: Detectable clonal mosaicism for large chromosomal events has been associated with aging and an increased risk of hematological and some solid cancers. We hypothesized that genetic cancer predisposition disorders, such as Fanconi anemia (FA)
Externí odkaz:
https://doaj.org/article/2a05af7ecf714c17916551b30f0cd80f
Autor:
Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francesc Bou de Pieri, Raquel Flores, Juan R González, Benjamín Rodríguez-Santiago, Jesús Argente, Luis A Pérez-Jurado
Publikováno v:
PLoS Genetics, Vol 13, Iss 5, p e1006657 (2017)
Obesity is a multifactorial disorder with high heritability (50-75%), which is probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including copy number variants (CNVs), have
Externí odkaz:
https://doaj.org/article/4a4fe61f3472466d86e6652f95b4db1f
Publikováno v:
Neurobiology of Disease, Vol 18, Iss 2, Pp 296-304 (2005)
Accumulation of mitochondrial defects is hypothesised to play a role in the complex pathophysiology of the sporadic form of Alzheimer's disease (SAD). Changes in expression of mtDNA encoded genes have been reported in SAD. However no conclusive resul
Externí odkaz:
https://doaj.org/article/8c9637010a2b44638ccfe967a88ebd39
Autor:
Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Ivon Cuscó, Teresa Vendrell, Núria Camats, Núria Torán, Luis A Pérez-Jurado
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e45530 (2012)
BACKGROUND: Congenital malformations are present in approximately 2-3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hyp
Externí odkaz:
https://doaj.org/article/4b9413e29e86456bacfca4a100140457
Autor:
Roger Esmel-Vilomara, Irene Valenzuela, Lucía Riaza, Benjamín Rodríguez-Santiago, Ferran Rosés-Noguer, Susana Boronat, Anna Sabaté-Rotés
Background and purpose: Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disease caused by biallelic variants in the SLC2A10 gene and characterized by tortuosity and elongation of the aorta and medium-sized arteries, foc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9aab80654b244597d9c8a93a4b4218a5
https://doi.org/10.21203/rs.3.rs-2321263/v1
https://doi.org/10.21203/rs.3.rs-2321263/v1
Autor:
Cristina Garcia-Melendo, Lluís Puig, Victoria Amat-Samaranch, Esther Roé, Susana Boronat, Xavier Cubiró, Benjamín Rodríguez-Santiago
Publikováno v:
Pediatric Dermatology. 38:919-925
We report a 6-year-old female with linear skin hyperpigmentation on the axillae and groin, intellectual disability, dysplastic teeth and nails, and facial dysmorphism who was diagnosed with a novel PHF6 pathogenic splicing variant. Males with PHF6 mu
Autor:
Rafael Fernández-Delgado, Massimo Bogliolo, Jordi Surrallés, Inmaculada Pérez de Soto, Fatima Bañez, Christopher Bauser, Cristina Beléndez-Bieler, Joaquín Dopazo, Eva M. Galvez, Raquel Sáez-Villaverde, Laura Rosiñol, Antonio Molinés, José Moraleda Jimenez, Miriam Aza-Carmona, Neda Stjepanovic, Gregorio de la Mata, Núria Muñoz-Subirana, Albert Català, Juan Miguel Bergua Burgues, Maria Marín, Leonort Senent, Ines Hernadez, Cristina Diaz-Heredia, Bienvenida Argilés, A. Figuera, Judith Reina-Castillón, Estela Carrasco, Macarena Gonzalez, Marta García, José A. Casado, José Nieto, Julián Sevilla, Luis A. Pérez-Jurado, Elena Cela, Ricardo López Almaraz, Isabel Cuesta, Antonio Escudero Soto, Raquel Portugal, José Manue Vagace, Benjamín Rodríguez-Santiago, Tobias Paprotka, Isabel Badell, Inés Hernando, Raquel Hladun, Cristina Vicho, Marta Barragaño, Anna Carrió, Pia Gallano, Francisco Lendínez, José Miguel Cosuelo, Roser Pujol, Marcos López-Sánchez, Ana Ruiz-Llobet, María Tapia, Phil Ancliff, Juan Antonio Muñoz, Monica Lopez, María Luisa Antelo, Alexandra Regueiro, Alberto Valiente, F.M. Garcia, Juan A. Bueren, Paula Río, Beatriz Arrizabalaga, Ana Maria Galera-Miñarro, Maria Carmen Garcia-Pardos, Judith Balmaña, Lidia Gonzalez-Quereda
Publikováno v:
JOURNAL OF MEDICAL GENETICS
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Journal of Medical Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Journal of Medical Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
PurposePatients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is challenging since FA is caused by point mutations and
Autor:
Eduardo F. Tizzano, Teresa Vendrell, Maria Segura-Puimedon, Paula Fernández-Álvarez, Lluís Armengol, Irene Valenzuela, Benjamín Rodríguez-Santiago
Publikováno v:
European Journal of Medical Genetics. 62:182-185
PRMT7 encodes for an arginine methyltransferase that methylates arginine residues on various protein substrates and has been shown to play a role in various developmental processes. Mutations in PRMT7 have been recently shown to be implicated in a ph
Autor:
Alberto Lleó, Jordi Clarimón, Isabel Hernández, Sara Bernal, Benjamín Rodríguez-Santiago, Agustín Ruiz, Daniel Alcolea, Ellen Gelpi, Laura Molina-Porcel, Oriol Dols-Icardo, Mercè Boada
Publikováno v:
Neuropathology and applied neurobiologyREFERENCES. 47(4)
We present the clinical and neuropathological findings of a patient with early onset Alzheimer's dementia (AD), heterozygous carrier of the rare Apolipoprotein E Christchurch (APOEch) variant. The patient did not harbor any pathogenic mutation in kno