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Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased ac...

Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased ac...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9a0498e951bf479a8ce5b96fc11940df

Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current ( I K,ACh)

About this item

Full title

Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current ( I K,ACh)

Publisher

England: The Company of Biologists Ltd

Journal title

Disease models & mechanisms, 2019-07, Vol.12 (7)

Language

English

Formats

Publication information

Publisher

England: The Company of Biologists Ltd

More information

Scope and Contents

Contents

Mutations in GNB5, encoding the G-protein β5 subunit (Gβ5), have recently been linked to a multisystem disorder that includes severe bradycardia. Here, we investigated the mechanism underlying bradycardia caused by the recessive p.S81L Gβ5 variant. Using CRISPR/Cas9-based targeting, we generated an isogenic series of human induced pluripotent stem...

Alternative Titles

Full title

Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current ( I K,ACh)

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_9a0498e951bf479a8ce5b96fc11940df

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9a0498e951bf479a8ce5b96fc11940df

Other Identifiers

ISSN

1754-8403

E-ISSN

1754-8411

DOI

10.1242/dmm.037994

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