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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Detalles Bibliográficos
Autores principales: Lazarte, Julieta, Hegele, Robert A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Editorial
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642461/
https://www.ncbi.nlm.nih.gov/pubmed/34862397
http://dx.doi.org/10.1038/s41525-021-00266-w
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author Lazarte, Julieta
Hegele, Robert A.
author_facet Lazarte, Julieta
Hegele, Robert A.
author_sort Lazarte, Julieta
collection PubMed
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.
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spelling pubmed-86424612021-12-15 Lamin A/C missense variants: from discovery to functional validation Lazarte, Julieta Hegele, Robert A. NPJ Genom Med Editorial 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. Nature Publishing Group UK 2021-12-03 /pmc/articles/PMC8642461/ /pubmed/34862397 http://dx.doi.org/10.1038/s41525-021-00266-w Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Editorial
Lazarte, Julieta
Hegele, Robert A.
Lamin A/C missense variants: from discovery to functional validation
title 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_short Lamin A/C missense variants: from discovery to functional validation
title_sort lamin a/c missense variants: from discovery to functional validation
topic Editorial
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642461/
https://www.ncbi.nlm.nih.gov/pubmed/34862397
http://dx.doi.org/10.1038/s41525-021-00266-w
work_keys_str_mv AT lazartejulieta laminacmissensevariantsfromdiscoverytofunctionalvalidation
AT hegeleroberta laminacmissensevariantsfromdiscoverytofunctionalvalidation

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