Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Genetic variants in ACTB and ACTG1 have been associated with Baraitser-Winter Cerebrofrontofacial syndrome. Here, the authors report of a syndromic thrombocytopenia caused by variants in ACTB exons 5 or 6 that compromise the organization and coupling of the cytoskeleton, leading to impaired platelet...

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Autores principales:	Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/569cb18d81a94fddbe69e1080068e13d
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spelling	oai:doaj.org-article:569cb18d81a94fddbe69e1080068e13d2021-12-02T17:31:57ZVariants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia10.1038/s41467-018-06713-02041-1723https://doaj.org/article/569cb18d81a94fddbe69e1080068e13d2018-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-06713-0https://doaj.org/toc/2041-1723Genetic variants in ACTB and ACTG1 have been associated with Baraitser-Winter Cerebrofrontofacial syndrome. Here, the authors report of a syndromic thrombocytopenia caused by variants in ACTB exons 5 or 6 that compromise the organization and coupling of the cytoskeleton, leading to impaired platelet maturation.Sharissa L. LathamNadja EhmkePatrick Y. A. ReinkeManuel H. TaftDorothee EickeTheresia ReindlWerner StenzelMichael J. LyonsMichael J. FriezJennifer A. LeeRamona HeckerMichael C. FrühwaldKerstin BeckerTeresa M. NeuhannDenise HornEvelin SchrockIndra NiehausKatharina SarnowKonrad GrützmannLuzie GawehnBarbara KlinkAndreas RumpChristine ChaponnierConstanca FigueiredoRalf KnöflerDietmar J. MansteinNataliya Di DonatoNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Sharissa L. Latham Nadja Ehmke Patrick Y. A. Reinke Manuel H. Taft Dorothee Eicke Theresia Reindl Werner Stenzel Michael J. Lyons Michael J. Friez Jennifer A. Lee Ramona Hecker Michael C. Frühwald Kerstin Becker Teresa M. Neuhann Denise Horn Evelin Schrock Indra Niehaus Katharina Sarnow Konrad Grützmann Luzie Gawehn Barbara Klink Andreas Rump Christine Chaponnier Constanca Figueiredo Ralf Knöfler Dietmar J. Manstein Nataliya Di Donato Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
description	Genetic variants in ACTB and ACTG1 have been associated with Baraitser-Winter Cerebrofrontofacial syndrome. Here, the authors report of a syndromic thrombocytopenia caused by variants in ACTB exons 5 or 6 that compromise the organization and coupling of the cytoskeleton, leading to impaired platelet maturation.
format	article
author	Sharissa L. Latham Nadja Ehmke Patrick Y. A. Reinke Manuel H. Taft Dorothee Eicke Theresia Reindl Werner Stenzel Michael J. Lyons Michael J. Friez Jennifer A. Lee Ramona Hecker Michael C. Frühwald Kerstin Becker Teresa M. Neuhann Denise Horn Evelin Schrock Indra Niehaus Katharina Sarnow Konrad Grützmann Luzie Gawehn Barbara Klink Andreas Rump Christine Chaponnier Constanca Figueiredo Ralf Knöfler Dietmar J. Manstein Nataliya Di Donato
author_facet	Sharissa L. Latham Nadja Ehmke Patrick Y. A. Reinke Manuel H. Taft Dorothee Eicke Theresia Reindl Werner Stenzel Michael J. Lyons Michael J. Friez Jennifer A. Lee Ramona Hecker Michael C. Frühwald Kerstin Becker Teresa M. Neuhann Denise Horn Evelin Schrock Indra Niehaus Katharina Sarnow Konrad Grützmann Luzie Gawehn Barbara Klink Andreas Rump Christine Chaponnier Constanca Figueiredo Ralf Knöfler Dietmar J. Manstein Nataliya Di Donato
author_sort	Sharissa L. Latham
title	Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
title_short	Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
title_full	Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
title_fullStr	Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
title_full_unstemmed	Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
title_sort	variants in exons 5 and 6 of actb cause syndromic thrombocytopenia
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/569cb18d81a94fddbe69e1080068e13d
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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

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