Trait-associated noncoding variant regions affect TBX3 regulation and cardiac conduction

Autor: Jan Hendrik van Weerd, Rajiv A Mohan, Karel van Duijvenboden, Ingeborg B Hooijkaas, Vincent Wakker, Bastiaan J Boukens, Phil Barnett, Vincent M Christoffels

Publikováno v: eLife, Vol 9 (2020)

Genome-wide association studies have implicated common genomic variants in the gene desert upstream of TBX3 in cardiac conduction velocity. Whether these noncoding variants affect expression of TBX3 or neighboring genes and how they affect cardiac co

Externí odkaz: https://doaj.org/article/46aaf9b6deb8477aad93b64460517e7b

Identification and functional characterization of cardiac pacemaker cells in zebrafish.

Autor: Federico Tessadori, Jan Hendrik van Weerd, Silja B Burkhard, Arie O Verkerk, Emma de Pater, Bastiaan J Boukens, Aryan Vink, Vincent M Christoffels, Jeroen Bakkers

Publikováno v: PLoS ONE, Vol 7, Iss 10, p e47644 (2012)

In the mammalian heart a conduction system of nodes and conducting cells generates and transduces the electrical signals evoking myocardial contractions. Specialized pacemaker cells initiating and controlling cardiac contraction rhythmicity are local

Externí odkaz: https://doaj.org/article/140dc362c5174df0958a27bc64963c64

Trait-associated noncoding variant regions affect TBX3 regulation and cardiac conduction

Autor: Karel van Duijvenboden, Bastiaan J. Boukens, Ingeborg B. Hooijkaas, Rajiv A Mohan, Vincent M. Christoffels, Vincent Wakker, Jan Hendrik van Weerd, Phil Barnett

Publikováno v: eLife, Vol 9 (2020)
eLife, 9:e56697, 1-26. eLife Sciences Publications

Genome-wide association studies have implicated common genomic variants in the gene desert upstream of TBX3 in cardiac conduction velocity. Whether these noncoding variants affect expression of TBX3 or neighboring genes and how they affect cardiac co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f154eabea91e93d9900b0811c10a5eb
https://elifesciences.org/articles/56697

Identification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 Regulation

Autor: Phil Barnett, Harmen J.G. van de Werken, Wouter de Laat, Federico Tessadori, Jeroen Bakkers, Malou van den Boogaard, Amira C. Bawazeer, Vincent M. Christoffels, Jan Hendrik van Weerd, Ingeborg B. Hooijkaas

Publikováno v: Cell Reports, 28(10), 2704. Cell Press
Cell Reports, Vol 28, Iss 10, Pp 2704-2714.e5 (2019)
Cell Reports, 28(10), 2704-+. Cell Press
Cell reports, 28(10), 2704-2714.e5. Cell Press
Cell Reports, 28(10), 2704-2714.e5. Cell Press

Summary: The human ether-a-go-go-related gene KCNH2 encodes the voltage-gated potassium channel underlying IKr, a current critical for the repolarization phase of the cardiac action potential. Mutations in KCNH2 that cause a reduction of the repolari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e1a7cf315db8607cb05125d491a5e3b
https://dspace.library.uu.nl/handle/1874/390330

The formation and function of the cardiac conduction system

Autor: Jan Hendrik van Weerd, Vincent M. Christoffels

Publikováno v: Development (Cambridge, England). 143(2)

The cardiac conduction system (CCS) consists of distinctive components that initiate and conduct the electrical impulse required for the coordinated contraction of the cardiac chambers. CCS development involves complex regulatory networks that act in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad8895e022d0fbc6bb1b7370a6cb28eb
https://pubmed.ncbi.nlm.nih.gov/26786210