Work

The impact of the genetic background in the Noonan syndrome phenotype induced by K-RasV14I

Year: 2015

Type: article

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.

Source: Rare Diseases

DOI: 10.1080/21675511.2015.1045169

Authors: Isabel Hernández-Porras, Beatriz Jiménez-Catalán, Alberto J Schuhmacher, Carmen Guerra

Institutions: Spanish National Cancer Research Centre, Molecular Oncology (United States)

Language: English

Topic: Protein Tyrosine Phosphatases

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W1556332247

FWCI: 0.59

Cites: 40

Cited by: 16

Related to: 10