1) La descarga del recurso depende de la página de origen
2) Para poder descargar el recurso, es necesario ser usuario registrado en Universia


Opción 1: Descargar recurso

Detalles del recurso

Descripción

We report that the dominant human missense mutations G303E and G296S in GATA4, a cardiac-specific transcription factor gene, cause atrioventricular septal defects and valve abnormalities by disrupting a signaling cascade involved in endocardial cushion development. These GATA4 missense mutations, but not a mutation causing secundum atrial septal defects (S52F), demonstrated impaired protein interactions with SMAD4, a transcription factor required for canonical bone morphogenetic protein/transforming growth factor-β (BMP/TGF-β) signaling. Gata4 and Smad4 genetically interact in vivo: atrioventricular septal defects result from endothelial-specific Gata4 and Smad4 compound haploinsufficiency. Endothelial-specific knockout of Smad4 caused an absence of valve-forming activity: Smad4-deficient endocardium was associated with acellular endocardial cushions, absent epithelial-to-mesenchymal transformation, reduced endocardial proliferation, and loss of Id2 expression in valve-forming regions. We show that Gata4 and Smad4 cooperatively activated the Id2 promoter, that human GATA4 mutations abrogated this activity, and that Id2 deficiency in mice could cause atrioventricular septal defects. We suggest that one determinant of the phenotypic spectrum caused by human GATA4 mutations is differential effects on GATA4/SMAD4 interactions required for endocardial cushion development.

Pertenece a

PubMed Central (PMC3 - NLM DTD)  

Autor(es)

Moskowitz, Ivan P. -  Wang, Jun -  Peterson, Michael A. -  Pu, William T. -  Mackinnon, Alexander C. -  Oxburgh, Leif -  Chu, Gerald C. -  Sarkar, Molly -  Berul, Charles -  Smoot, Leslie -  Robertson, Elizabeth J. -  Schwartz, Robert -  Seidman, Jonathan G. -  Seidman, Christine E. - 

Id.: 54459972

Idioma: inglés  - 

Versión: 1.0

Estado: Final

Palabras claveBiological Sciences - 

Tipo de recurso: Text  - 

Tipo de Interactividad: Expositivo

Nivel de Interactividad: muy bajo

Audiencia: Estudiante  -  Profesor  -  Autor  - 

Estructura: Atomic

Coste: no

Copyright: sí

Requerimientos técnicos:  Browser: Any - 

Fecha de contribución: 09-sep-2011

Contacto:

Localización:

Otros recursos del mismo autor(es)

  1. Ground and bound state solutions for a Schrödinger system with linear and nonlinear couplings in $\mathbb{R}^N$ We study the existence of ground and bound state solutions for a system of coupled Schrödinger equat...
  2. CSF1R+ macrophages sustain pancreatic tumor growth through T cell suppression and maintenance of key gene programs that define the squamous subtype Pancreatic ductal adenocarcinoma (PDAC) is resistant to most therapies including single-agent immuno...
  3. Protonation equilibria and pore-opening structure of the dual-histidine influenza B virus M2 transmembrane proton channel from solid-state NMR The influenza A and B viruses are the primary cause of seasonal flu epidemics. Common to both viruse...
  4. A nonmagnetic differentiated early planetary body International audience
  5. $rec.titulo

Otros recursos de la mismacolección

No existen otros recursos

Aviso de cookies: Usamos cookies propias y de terceros para mejorar nuestros servicios, para análisis estadístico y para mostrarle publicidad. Si continua navegando consideramos que acepta su uso en los términos establecidos en la Política de cookies.