Publication: The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).
| dc.contributor.author | Hernández-Porras, Isabel | |
| dc.contributor.author | Jiménez-Catalán, Beatriz | |
| dc.contributor.author | Schuhmacher, Alberto J | |
| dc.contributor.author | Guerra, Carmen | |
| dc.contributor.funder | Comunidad de Madrid (España) | |
| dc.contributor.funder | Ministerio de Economía, Industria y Competitividad (España) | |
| dc.contributor.funder | Fundacion Ramón Areces | es_ES |
| dc.date.accessioned | 2024-06-25T09:31:14Z | |
| dc.date.available | 2024-06-25T09:31:14Z | |
| dc.date.issued | 2015 | |
| dc.description.abstract | Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature, craniofacial dysmorphism, and congenital heart defects. A significant fraction of NS-patients also develop myeloproliferative disorders. The penetrance of these defects varies considerably among patients. In this study, we have examined the effect of 2 genetic backgrounds (C57BL/6J.OlaHsd and 129S2/SvPasCrl) on the phenotypes displayed by a mouse model of NS induced by germline expression of the mutated K-Ras (V14I) allele, one of the most frequent NS-KRAS mutations. Our results suggest the presence of genetic modifiers associated to the genetic background that are essential for heart development and function at early stages of postnatal life as well as in the severity of the haematopoietic alterations. | es_ES |
| dc.description.sponsorship | Work was supported by grants from Fondo de Investigaci on Sanitaria (PI042124, PI08–1623, PI11–02529),Autonomous Community of Madrid (GR/SAL/0349/2004), and Fundaci on Ram on Areces (FRA 01–09–001) to C.G.I.H.-P. was supported by PFIS grant from the Instituto de Salud Carlos III and A.J. S. by a FPU fellowship from the Spanish Ministry of Economy and Competitiveness and by the COFUND scheme of the Seventh Framework Program of the Euro-pean Union (grant agreement 291820) | es_ES |
| dc.format.number | 1 | es_ES |
| dc.format.page | e1045169 | es_ES |
| dc.format.volume | 3 | es_ES |
| dc.identifier.citation | Rare Dis . 2015 ;3(1):e1045169 | es_ES |
| dc.identifier.doi | 10.1080/21675511.2015.1045169 | es_ES |
| dc.identifier.issn | 2167-5511 | es_ES |
| dc.identifier.journal | Rare diseases (Austin, Tex.) | es_ES |
| dc.identifier.pubmedID | 26458870 | es_ES |
| dc.identifier.uri | http://hdl.handle.net/20.500.12105/19851 | |
| dc.language.iso | eng | es_ES |
| dc.publisher | Taylor & Francis | |
| dc.repisalud.institucion | CNIO | es_ES |
| dc.repisalud.orgCNIO | CNIO::Grupos de investigación::Grupo de Oncología Experimental | es_ES |
| dc.rights.accessRights | open access | es_ES |
| dc.rights.license | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
| dc.title | The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). | es_ES |
| dc.type | research article | |
| dspace.entity.type | Publication | |
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