Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Elena Rojano"'
Autor:
Helena Lucena-Padros, Nereida Bravo-Gil, Cristina Tous, Elena Rojano, Pedro Seoane-Zonjic, Raquel María Fernández, Juan A. G. Ranea, Guillermo Antiñolo, Salud Borrego
Publikováno v:
Biomolecules, Vol 14, Iss 2, p 164 (2024)
Hirschsprung’s disease (HSCR) is a rare developmental disorder in which enteric ganglia are missing along a portion of the intestine. HSCR has a complex inheritance, with RET as the major disease-causing gene. However, the pathogenesis of HSCR is s
Externí odkaz:
https://doaj.org/article/c974284fbc0d468180529d8232d8d2bc
Autor:
Elena Rojano, Fernando M. Jabato, James R. Perkins, José Córdoba-Caballero, Federico García-Criado, Ian Sillitoe, Christine Orengo, Juan A. G. Ranea, Pedro Seoane-Zonjic
Publikováno v:
BMC Bioinformatics, Vol 23, Iss 1, Pp 1-19 (2022)
Abstract Background Protein function prediction remains a key challenge. Domain composition affects protein function. Here we present DomFun, a Ruby gem that uses associations between protein domains and functions, calculated using multiple indices b
Externí odkaz:
https://doaj.org/article/04cbfecf2a7e4f32bcde7c8858ce38c0
Autor:
Fernando M. Jabato, José Córdoba-Caballero, Elena Rojano, Carlos Romá-Mateo, Pascual Sanz, Belén Pérez, Diana Gallego, Pedro Seoane, Juan A. G. Ranea, James R. Perkins
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract High-throughput gene expression analysis is widely used. However, analysis is not straightforward. Multiple approaches should be applied and methods to combine their results implemented and investigated. We present methodology for the compre
Externí odkaz:
https://doaj.org/article/35510445a6824f5eb37caeaab2b029f1
Autor:
Elena Díaz-Santiago, Fernando M Jabato, Elena Rojano, Pedro Seoane, Florencio Pazos, James R Perkins, Juan A G Ranea
Publikováno v:
PLoS Genetics, Vol 16, Iss 10, p e1009054 (2020)
Genetic and molecular analysis of rare disease is made difficult by the small numbers of affected patients. Phenotypic comorbidity analysis can help rectify this by combining information from individuals with similar phenotypes and looking for overla
Externí odkaz:
https://doaj.org/article/6dd3ee164edf4928a8b351983cede7ae
Autor:
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, Roser Urreizti
Publikováno v:
Journal of Medical Genetics. 60:406-415
BackgroundSchaaf-Yang syndrome (SYS) is caused by truncating mutations inMAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transpo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e24d5e784d6c07edc91aacacec732b52
https://doi.org/10.1136/jmg-2022-108690
https://doi.org/10.1136/jmg-2022-108690
Autor:
Raquel Pagano-Márquez, José Córdoba-Caballero, Beatriz Martínez-Poveda, Ana R Quesada, Elena Rojano, Pedro Seoane, Juan A G Ranea, Miguel Ángel Medina
Publikováno v:
Briefings in Bioinformatics. 23
Background Angiogenesis is regulated by multiple genes whose variants can lead to different disorders. Among them, rare diseases are a heterogeneous group of pathologies, most of them genetic, whose information may be of interest to determine the sti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abdde97032fb69a5a83f7ce407fd7f8f
https://doi.org/10.1093/bib/bbac220
https://doi.org/10.1093/bib/bbac220
Autor:
Fernando M. Jabato, Florencio Pazos, Elena Rojano, Juan A. G. Ranea, James R. Perkins, Pedro Seoane, Adrián García Moreno, Monica Chagoyen
Publikováno v:
Human Genetics. 140:457-475
Copy number variation (CNV) related disorders tend to show complex phenotypic profiles that do not match known diseases. This makes it difficult to ascertain their underlying molecular basis. A potential solution is to compare the affected genomic re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e78836cb5d45cb40bd322a29630d9e8
https://doi.org/10.1007/s00439-020-02214-7
https://doi.org/10.1007/s00439-020-02214-7
Autor:
Carlos Romá-Mateo, James R. Perkins, Pedro Seoane, Belén Pérez, Juan A. G. Ranea, Elena Rojano, Diana Gallego, José Córdoba-Caballero, Fernando M. Jabato, Pascual Sanz
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific Reports
instname
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific Reports
12 páginas, 7 figuras, 2 tablas. Te online version contains supplementary material available at https://doi.org/ 10.1038/s41598-021-94343-w . Code is available at the bioconductor landing page https://bioconductor.org/packages/ExpHunterSuite. Te lat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326e6b3334ca56632988cbeb8fa22d0a
https://doi.org/10.1038/s41598-021-94343-w
https://doi.org/10.1038/s41598-021-94343-w
Autor:
Elena Rojano, Fernando Moreno Jabato, James Richard Perkins, José Córdoba Caballero, Ian Sillitoe, Christine Orengo, Juan Antonio García Ranea, Pedro Seoane Zonjic
Background: Protein function prediction remains a key challenge. Domain composition is key to understanding protein function, and domain-based prediction methods consistently perform well in challenges such as CAFA. Here we present DomFun, a Ruby gem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4875defb1a80e2582e69f2b595ed589
https://doi.org/10.21203/rs.3.rs-90024/v1
https://doi.org/10.21203/rs.3.rs-90024/v1
Autor:
Florencio Pazos, Elena Rojano, Fernando M. Jabato, Elena Díaz-Santiago, James R. Perkins, Pedro Seoane, Juan A. G. Ranea
Publikováno v:
PLoS Genetics, Vol 16, Iss 10, p e1009054 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
PLoS Genetics
Digital.CSIC. Repositorio Institucional del CSIC
instname
PLoS Genetics
© 2020 Díaz-Santiago et al.
Genetic and molecular analysis of rare disease is made difficult by the small numbers of affected patients. Phenotypic comorbidity analysis can help rectify this by combining information from individuals with simila
Genetic and molecular analysis of rare disease is made difficult by the small numbers of affected patients. Phenotypic comorbidity analysis can help rectify this by combining information from individuals with simila
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1f47cd0269aee5d807d2142643b51c
https://doaj.org/article/6dd3ee164edf4928a8b351983cede7ae
https://doaj.org/article/6dd3ee164edf4928a8b351983cede7ae