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Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval

Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6561183

Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval

About this item

Full title

Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval

Publisher

United States: National Academy of Sciences

Journal title

Proceedings of the National Academy of Sciences - PNAS, 2019-05, Vol.116 (22), p.10636-10645

Language

English

Formats

Publication information

Publisher

United States: National Academy of Sciences

More information

Scope and Contents

Contents

The rationale for genome-wide association study (GWAS) results is sequence variation in cis-regulatory elements (CREs) modulating a target gene’s expression as the major cause of trait variation. To understand the complete molecular landscape of one of these GWAS loci, we performed in vitro reporter screens in cardiomyocyte cell lines for CREs over...

Alternative Titles

Full title

Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6561183

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6561183

Other Identifiers

ISSN

0027-8424

E-ISSN

1091-6490

DOI

10.1073/pnas.1808734116

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