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...

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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:	Science Q
Acceso en línea:	https://doaj.org/article/66e16b61abb241279ef0843df3598a01
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spelling	oai:doaj.org-article:66e16b61abb241279ef0843df3598a012021-12-02T15:35:48ZMutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects10.1038/s41467-019-10849-y2041-1723https://doaj.org/article/66e16b61abb241279ef0843df3598a012019-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-10849-yhttps://doaj.org/toc/2041-1723Why 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 abnormality, corpus callosum agenesis, is due to midline glia aberrations.Alina FilatovaLinda K. ReyMarion B. LechlerJörg SchaperMaja HempelRenata PosmykKrzysztof SzczalubaGijs W. E. SantenDagmar WieczorekUlrike A. NuberNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
description	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 abnormality, corpus callosum agenesis, is due to midline glia aberrations.
format	article
author	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
author_facet	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
author_sort	Alina Filatova
title	Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
title_short	Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
title_full	Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
title_fullStr	Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
title_full_unstemmed	Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
title_sort	mutations in smarcb1 and in other coffin–siris syndrome genes lead to various brain midline defects
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/66e16b61abb241279ef0843df3598a01
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Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

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