Zobrazeno 1 - 10
of 102
pro vyhledávání: '"Xavier de la Cruz"'
Autor:
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier
Externí odkaz:
https://doaj.org/article/78105606e072432f9749da08dbbd20b7
Autor:
Josu Aguirre, Natàlia Padilla, Selen Özkan, Casandra Riera, Lídia Feliubadaló, Xavier de la Cruz
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 14, p 11872 (2023)
Pathogenicity predictors are computational tools that classify genetic variants as benign or pathogenic; this is currently a major challenge in genomic medicine. With more than fifty such predictors available, selecting the most suitable tool for cli
Externí odkaz:
https://doaj.org/article/2c417bdf193e4cc0be714d0f9ec0186a
Autor:
Laura Viñas-Giménez, Rafael Rincón, Roger Colobran, Xavier de la Cruz, Verónica Paola Celis, José Luis Dapena, Laia Alsina, Joan Sayós, Mónica Martínez-Gallo
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder. HLH can be considered as a threshold disease depending on the trigger and the residual NK-cell cytotoxicity. In this study, we analyzed the molecular and funct
Externí odkaz:
https://doaj.org/article/adad2843b85d4f1691acf851788361af
Autor:
Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Veronica Delgadillo, Steve Laurie, Sophia Derdak, Natàlia Padilla, Xavier de la Cruz, Núria Capdevila, Nino Spataro, Neus Baena, Miriam Guitart, Anna Ruiz
Publikováno v:
PLoS ONE, Vol 16, Iss 10 (2021)
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 1
Externí odkaz:
https://doaj.org/article/58f010521b1a422bb267dbbed268f859
Autor:
Laura Viñas-Giménez, Natàlia Padilla, Laura Batlle-Masó, Ferran Casals, Jacques G. Rivière, Mónica Martínez-Gallo, Xavier de la Cruz, Roger Colobran
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders. The lack of comprehensive disease-specific mutation databases may hinder or delay classification of the genetic variants found in samples from these patients. This
Externí odkaz:
https://doaj.org/article/aa915b4130a44308a82e0f9dd6a1bf13
Autor:
Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract Background Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. E
Externí odkaz:
https://doaj.org/article/1e43991c7efe4b65b577dbeda655da5f
Autor:
Mireia Olivan, Marta Garcia, Leticia Suárez, Marc Guiu, Laura Gros, Olga Méndez, Marina Rigau, Jaume Reventós, Miguel F. Segura, Inés de Torres, Jacques Planas, Xavier de la Cruz, Roger R. Gomis, Juan Morote, Ruth Rodríguez-Barrueco, Anna Santamaria
Publikováno v:
Cancers, Vol 13, Iss 24, p 6202 (2021)
About 70% of advanced-stage prostate cancer (PCa) patients will experience bone metastasis, which severely affects patients’ quality of life and progresses to lethal PCa in most cases. Hence, understanding the molecular heterogeneity of PCa cell po
Externí odkaz:
https://doaj.org/article/72cf3aba413245fb9db340fa9c79d997
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6226 (2021)
The present limitations in the pathogenicity prediction of BRCA1 and BRCA2 (BRCA1/2) missense variants constitute an important problem with negative consequences for the diagnosis of hereditary breast and ovarian cancer. However, it has been proposed
Externí odkaz:
https://doaj.org/article/85dacc3f2d8a4d6bb6b7249e3b83cb70
Publikováno v:
BMC Genomics, Vol 18, Iss S5, Pp 1-14 (2017)
Abstract Background Strict guidelines delimit the use of computational information in the clinical setting, due to the still moderate accuracy of in silico tools. These guidelines indicate that several tools should always be used and that full coinci
Externí odkaz:
https://doaj.org/article/aee7dba87dbc49fabf53d6a087540995
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 7, p 1583 (2019)
One of the known potential effects of disease-causing amino acid substitutions in proteins is to modulate protein-protein interactions (PPIs). To interpret such variants at the molecular level and to obtain useful information for prediction purposes,
Externí odkaz:
https://doaj.org/article/b70ae63318964483a6eb653d3322d5ad