2026-05-22T00:32:51Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/198512025-03-13T07:33:00Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
Hernández-Porras, Isabel
author
Jiménez-Catalán, Beatriz
author
Schuhmacher, Alberto J
author
Guerra, Carmen
funder
Comunidad de Madrid (España)
funder
Ministerio de Economía, Industria y Competitividad (España)
funder
Fundacion Ramón Areces
2024-06-25T09:31:14Z
2024-06-25T09:31:14Z
2015
Rare Dis . 2015 ;3(1):e1045169
10.1080/21675511.2015.1045169
2167-5511
Rare diseases (Austin, Tex.)
26458870
http://hdl.handle.net/20.500.12105/19851
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.
eng
The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).
research article
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Theimpactofthegeneticbackground_2015.pdf.txt
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