Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
Why and how mutations in genes encoding BAF complex components lead to distinct disease entitites remains unresolved. In this study, authors establish the first Smarcb1 mutant mouse model with multiple brain abnormalities recapitulating human Coffin–Siris syndrome and show that one prominent midline...
Guardado en:
Autores principales: | Alina Filatova, Linda K. Rey, Marion B. Lechler, Jörg Schaper, Maja Hempel, Renata Posmyk, Krzysztof Szczaluba, Gijs W. E. Santen, Dagmar Wieczorek, Ulrike A. Nuber |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2019
|
Materias: | |
Acceso en línea: | https://doaj.org/article/66e16b61abb241279ef0843df3598a01 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Síndrome de Coffin-Siris: casos clínicos y revisión de la literatura
por: Aravena C,Teresa, et al.
Publicado: (2001) -
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
por: Erfan Aref-Eshghi, et al.
Publicado: (2018) -
Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
por: Guanting Lu, et al.
Publicado: (2021) -
Inhibition of MYC by the SMARCB1 tumor suppressor
por: April M. Weissmiller, et al.
Publicado: (2019) -
Siris empirismo e idealismo platónico en el siglo XVIII /
por: Berkeley, George
Publicado: (2009)