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Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome
| Indexado |
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| DOI | 10.1186/1471-2199-11-63 | ||||
| Año | 2010 | ||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
Abstract
Conclusion: Our results indicate that transcription factor activity and subcellular localization signals reside in two separate domains of the protein and both are essential for the correct functionality of RAI1. The pathogenic outcome of some of the mutated forms can be explained by the dissociation of these two domains.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Carmona-Mora, Paulina | Mujer |
UNIV MIAMI - Estados Unidos
Centro de Estudios Científicos - Chile University of Miami Leonard M. Miller School of Medicine - Estados Unidos |
| 2 | ENCINA-OLAVARRIA, CAROLINA ANDREA | Mujer |
Centro de Estudios Científicos - Chile
Universidad Austral de Chile - Chile |
| 3 | CANALES-MARTINEZ, CESAR PATRICIO | Hombre |
UNIV MIAMI - Estados Unidos
Centro de Estudios Científicos - Chile University of Miami Leonard M. Miller School of Medicine - Estados Unidos |
| 4 | Cao, Lei | - |
UNIV MIAMI - Estados Unidos
University of Miami Leonard M. Miller School of Medicine - Estados Unidos |
| 5 | MOLINA-ARAVENA, JESSICA ALEJANDRA | Mujer |
Centro de Estudios Científicos - Chile
|
| 6 | KAIRATH-OLIVA, PAMELA ANDREA | Mujer |
Centro de Estudios Científicos - Chile
Universidad Austral de Chile - Chile |
| 7 | Young, Juan I. | Hombre |
UNIV MIAMI - Estados Unidos
Centro de Estudios Científicos - Chile University of Miami Leonard M. Miller School of Medicine - Estados Unidos |
| 8 | Walz, Katherina | Mujer |
UNIV MIAMI - Estados Unidos
Centro de Estudios Científicos - Chile University of Miami Leonard M. Miller School of Medicine - Estados Unidos |
| Fuente |
|---|
| FONDECYT |
| Fondo Nacional de Desarrollo Científico y Tecnológico |
| Fogarty International Center |
| Comisión Nacional de Investigación Científica y Tecnológica |
| FIC |
| CMPC |
| Telefónica del Sur |
| Arauco |
| Chilean Government through Conicyt |
| Antofagasta Minerals |
| Indura |
| Naviera Ultragas |
| Empresas |
| Agradecimiento |
|---|
| We thank Ana Lorenzo and Irene Perez for administrative support and English editing of the manuscript. This work was supported by FONDECYT [grant 1061067 (KW), 1051079 (JIY)], FIC [R03 TW07536 (KW)]. The Centro de Estudios Cientificos (CECS) is funded by the Chilean Government through the Millennium Science Initiative and the Centers of Excellence Base Financing Program of Conicyt. CECS is also supported by a group of private companies which at present include Antofagasta Minerals, Arauco, Empresas CMPC, Indura, Naviera Ultragas and Telefonica del Sur. |
| We thank Ana Lorenzo and Irene Perez for administrative support and English editing of the manuscript. This work was supported by FONDECYT [grant 1061067 (KW), 1051079 (JIY)], FIC [R03 TW07536 (KW)]. The Centro de Estudios Científicos (CECS) is funded by the Chilean Government through the Millennium Science Initiative and the Centers of Excellence Base Financing Program of Conicyt. CECS is also supported by a group of private companies which at present include Antofagasta Minerals, Arauco, Empresas CMPC, Indura, Naviera Ultragas and Telefónica del Sur. |
