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http://hdl.handle.net/10261/166720
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Campo DC | Valor | Lengua/Idioma |
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dc.contributor.author | Campos-Sánchez, Elena | - |
dc.contributor.author | Deleyto-Seldas, Nerea | - |
dc.contributor.author | Cobaleda, César | - |
dc.date.accessioned | 2018-06-20T11:04:19Z | - |
dc.date.available | 2018-06-20T11:04:19Z | - |
dc.date.issued | 2017-05-23 | - |
dc.identifier | doi: 10.1016/j.celrep.2017.04.069 | - |
dc.identifier | issn: 2211-1247 | - |
dc.identifier.citation | Cell Reports 19: 1586- 1601 (2017) | - |
dc.identifier.uri | http://hdl.handle.net/10261/166720 | - |
dc.description.abstract | Immunodeficiency is one of the most important causes of mortality associated with Wolf-Hirschhorn syndrome (WHS), a severe rare disease originated by a deletion in chromosome 4p. The WHS candidate 1 (WHSC1) gene has been proposed as one of the main genes responsible for many of the alterations in WHS, but its mechanism of action is still unknown. Here, we present in vivo genetic evidence showing that Whsc1 plays an important role at several points of hematopoietic development. Particularly, our results demonstrate that both differentiation and function of Whsc1-deficient B cells are impaired at several key developmental stages due to profound molecular defects affecting B cell lineage specification, commitment, fitness, and proliferation, demonstrating a causal role for WHSC1 in the immunodeficiency of WHS patients. | - |
dc.description.sponsorship | FEDER (Fondo de Investigaciones Sanitarias/Instituto de Salud Carlos III) (PI13/00160 and PI14/00025), Fundación Inocente Inocente, and the ARIMMORA EU/FP7 project and by donations from the Asociación Española del Síndrome de Wolf Hirschhorn (AESWH), the Fundación Síndrome de Wolf-Hirschhorn or 4p- (FSWH4p), FECYT Precipita, and Fundación Ramón Areces | - |
dc.relation | info:eu-repo/grantAgreement/EC/FP7/282891 | - |
dc.relation.isversionof | Publisher's version | - |
dc.rights | openAccess | - |
dc.title | Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development | - |
dc.type | artículo | - |
dc.identifier.doi | 10.1016/j.celrep.2017.04.069 | - |
dc.date.updated | 2018-06-20T11:04:19Z | - |
dc.description.version | Peer Reviewed | - |
dc.language.rfc3066 | eng | - |
dc.rights.license | https://creativecommons.org/licenses/by/4.0/ | - |
dc.contributor.funder | Instituto de Salud Carlos III | - |
dc.contributor.funder | Asociación Española del Síndrome de Wolf-Hirschhorn | - |
dc.contributor.funder | European Commission | - |
dc.contributor.funder | Fundación Inocente Inocente | - |
dc.contributor.funder | Fundación Ramón Areces | - |
dc.relation.csic | Sí | - |
dc.identifier.funder | http://dx.doi.org/10.13039/501100004587 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/100008054 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100000780 | es_ES |
dc.identifier.pmid | 28538178 | - |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.fulltext | With Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
item.openairetype | artículo | - |
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Fichero | Descripción | Tamaño | Formato | |
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CobaledaC_Wolf-HirschhornSyndrome.pdf | 9,53 MB | Adobe PDF | Visualizar/Abrir |
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