Exon identity crisis: disease-causing mutations that disrupt the splicing code

Cis-acting RNA elements control the accurate expression of human multi-exon protein coding genes. Single nucleotide variants altering the fidelity of this regulatory code and, consequently, pre-mRNA splicing are expected to contribute to the etiology of numerous human diseases.

Detalles Bibliográficos
Autores principales: Sterne-Weiler, Timothy, Sanford, Jeremy R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053859/
https://www.ncbi.nlm.nih.gov/pubmed/24456648
http://dx.doi.org/10.1186/gb4150
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author Sterne-Weiler, Timothy
Sanford, Jeremy R
author_facet Sterne-Weiler, Timothy
Sanford, Jeremy R
author_sort Sterne-Weiler, Timothy
collection PubMed
description Cis-acting RNA elements control the accurate expression of human multi-exon protein coding genes. Single nucleotide variants altering the fidelity of this regulatory code and, consequently, pre-mRNA splicing are expected to contribute to the etiology of numerous human diseases.
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spelling pubmed-40538592015-01-23 Exon identity crisis: disease-causing mutations that disrupt the splicing code Sterne-Weiler, Timothy Sanford, Jeremy R Genome Biol Review Cis-acting RNA elements control the accurate expression of human multi-exon protein coding genes. Single nucleotide variants altering the fidelity of this regulatory code and, consequently, pre-mRNA splicing are expected to contribute to the etiology of numerous human diseases. BioMed Central 2014 2014-01-23 /pmc/articles/PMC4053859/ /pubmed/24456648 http://dx.doi.org/10.1186/gb4150 Text en Copyright © 2014 Sterne-Weiler and Sanford; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 The licensee has exclusive rights to distribute this article, in any medium, for 12 months following its publication. After this time, the article is available under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Sterne-Weiler, Timothy
Sanford, Jeremy R
Exon identity crisis: disease-causing mutations that disrupt the splicing code
title Exon identity crisis: disease-causing mutations that disrupt the splicing code
title_full Exon identity crisis: disease-causing mutations that disrupt the splicing code
title_fullStr Exon identity crisis: disease-causing mutations that disrupt the splicing code
title_full_unstemmed Exon identity crisis: disease-causing mutations that disrupt the splicing code
title_short Exon identity crisis: disease-causing mutations that disrupt the splicing code
title_sort exon identity crisis: disease-causing mutations that disrupt the splicing code
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053859/
https://www.ncbi.nlm.nih.gov/pubmed/24456648
http://dx.doi.org/10.1186/gb4150
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