Lamin A/C missense variants: from discovery to functional validation

Rare variants in the LMNA gene encoding nuclear lamin A/C are causal for more than a dozen diverse mendelian disorders. Defining the functional consequences of LMNA variants has been challenging given the pleiotropy of gene functions and potential pathogenic mechanisms. It is essential to develop tr...

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Autores principales:	Julieta Lazarte, Robert A. Hegele
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/a82e742e29dd429d8ca915fd00244634
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spelling	oai:doaj.org-article:a82e742e29dd429d8ca915fd002446342021-12-05T12:26:32ZLamin A/C missense variants: from discovery to functional validation10.1038/s41525-021-00266-w2056-7944https://doaj.org/article/a82e742e29dd429d8ca915fd002446342021-12-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00266-whttps://doaj.org/toc/2056-7944Rare variants in the LMNA gene encoding nuclear lamin A/C are causal for more than a dozen diverse mendelian disorders. Defining the functional consequences of LMNA variants has been challenging given the pleiotropy of gene functions and potential pathogenic mechanisms. It is essential to develop trustworthy, scalable and rapidly deployable in vitro assays of function to enable timely assessment of missense variants that are being uncovered by high throughout next-generation sequencing.Julieta LazarteRobert A. HegeleNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-2 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Julieta Lazarte Robert A. Hegele Lamin A/C missense variants: from discovery to functional validation
description	Rare variants in the LMNA gene encoding nuclear lamin A/C are causal for more than a dozen diverse mendelian disorders. Defining the functional consequences of LMNA variants has been challenging given the pleiotropy of gene functions and potential pathogenic mechanisms. It is essential to develop trustworthy, scalable and rapidly deployable in vitro assays of function to enable timely assessment of missense variants that are being uncovered by high throughout next-generation sequencing.
format	article
author	Julieta Lazarte Robert A. Hegele
author_facet	Julieta Lazarte Robert A. Hegele
author_sort	Julieta Lazarte
title	Lamin A/C missense variants: from discovery to functional validation
title_short	Lamin A/C missense variants: from discovery to functional validation
title_full	Lamin A/C missense variants: from discovery to functional validation
title_fullStr	Lamin A/C missense variants: from discovery to functional validation
title_full_unstemmed	Lamin A/C missense variants: from discovery to functional validation
title_sort	lamin a/c missense variants: from discovery to functional validation
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a82e742e29dd429d8ca915fd00244634
work_keys_str_mv	AT julietalazarte laminacmissensevariantsfromdiscoverytofunctionalvalidation AT robertahegele laminacmissensevariantsfromdiscoverytofunctionalvalidation
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Lamin A/C missense variants: from discovery to functional validation

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