An atrial fibrillation-associated regulatory region modulates cardiac Tbx5 levels and arrhythmia susceptibility

Autor: Fernanda M Bosada, Karel van Duijvenboden, Alexandra E Giovou, Mathilde R Rivaud, Jae-Sun Uhm, Arie O Verkerk, Bastiaan J Boukens, Vincent M Christoffels

Publikováno v: eLife, Vol 12 (2023)

Heart development and rhythm control are highly Tbx5 dosage-sensitive. TBX5 haploinsufficiency causes congenital conduction disorders, whereas increased expression levels of TBX5 in human heart samples has been associated with atrial fibrillation (AF

Externí odkaz: https://doaj.org/article/6c9f0c237a34499487c877a31f70329b

Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction

Autor: Antoinette F. van Ouwerkerk, Fernanda M. Bosada, Karel van Duijvenboden, Arjan C. Houweling, Koen T. Scholman, Vincent Wakker, Cornelis P. Allaart, Jae-Sun Uhm, Inge B. Mathijssen, Ton Baartscheer, Alex V. Postma, Phil Barnett, Arie O. Verkerk, Bastiaan J. Boukens, Vincent M. Christoffels

Publikováno v: Circulation, 145(8), 606-619. Lippincott Williams and Wilkins
Circulation
Circulation, 2022, 145 (8), pp.606-619. ⟨10.1161/CIRCULATIONAHA.121.054347⟩
van Ouwerkerk, A F, Bosada, F M, van Duijvenboden, K, Houweling, A C, Scholman, K T, Wakker, V, Allaart, C P, Uhm, J-S, Mathijssen, I B, Baartscheer, T, Postma, A V, Barnett, P, Verkerk, A O, Boukens, B J & Christoffels, V M 2022, ' Patient-specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction ', Circulation, vol. 145, no. 8, pp. 606-619 . https://doi.org/10.1161/CIRCULATIONAHA.121.054347

Background: The pathogenic missense variant p.G125R in TBX5 (T-box transcription factor 5) causes Holt–Oram syndrome (also known as hand–heart syndrome) and early onset of atrial fibrillation. Revealing how an altered key developmental transcript

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a209d08a9c687a2e9aca26b1941332b
http://www.scopus.com/inward/record.url?scp=85125020282&partnerID=8YFLogxK

A Variant Noncoding Region Regulates Prrx1 and Predisposes to Atrial Arrhythmias

Autor: Sander Verheule, Jae-Sun Uhm, Mathilde R. Rivaud, Karel van Duijvenboden, Bastiaan J. Boukens, Fernanda M Bosada, Vincent M. Christoffels, Arie O. Verkerk

Publikováno v: Circulation research, 129(3), 420-434. Lippincott Williams and Wilkins
Circulation Research, 129(3), 420-434. LIPPINCOTT WILLIAMS & WILKINS

Rationale: Atrial fibrillation (AF) is the most common cardiac arrhythmia diagnosed in clinical practice. Genome-wide association studies have identified AF-associated common variants across 100+ genomic loci, but the mechanism underlying the impact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a26dfe29ddc0b58b4d5e1c9b6e188af9
https://doi.org/10.1161/circresaha.121.319146

T-box transcription factor 3 governs a transcriptional program for the function of the mouse atrioventricular conduction system

Autor: Ingeborg B. Hooijkaas, Gerard J.J. Boink, Phil Barnett, Vincent Wakker, Jan Hendrik van Weerd, Mathilda T.M. Mommersteeg, Karel van Duijvenboden, Rajiv A Mohan, Jeroen Bakkers, Jianan Wang, Fernanda M Bosada, Bas J. Boukens, Ruben Coronel, Corrie de Gier-de Vries, Vincent M. Christoffels

Publikováno v: Proceedings of the National Academy of Sciences
Proceedings of the National Academy of Sciences of the United States of America, 117(31), 18617-18626. National Academy of Sciences
Proc Natl Acad Sci U S A

Genome-wide association studies have identified noncoding variants near TBX3 that are associated with PR interval and QRS duration, suggesting that subtle changes in TBX3 expression affect atrioventricular conduction system function. To explore wheth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8663cd23b81fb29e373e075da220d7c
https://doi.org/10.1073/pnas.1919379117

BS-515-01 NON-CODING DELETION INDUCES 3D CHROMATIN REMODELLING AND PITX2 EXPRESSION DYSREGULATION ASSOCIATED WITH A SYNDROMIC CARDIAC DISORDER

Autor: Manon Baudic, Hiroshige Murata, Fernanda M. Bosada, Uira Souto Melo, Taisuke Ishikawa, Takanori Aizawa, Amaury Guedon, Estelle Baron, ADRIEN FOUCAL, Pierre Lindenbaum, Solena Le Scouarnec, Wataru Shimizu, JEAN BAPTISTE GOURRAUD, Naomasa Makita, Herve Le Marec, Claude Vieyres, Stephan Mundlos, Vincent M. Christoffels, Takeru Makiyama, VINCENT PROBST, Jean-Jacques Schott, Julien Barc

Publikováno v: Heart Rhythm. 19:S51-S52

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a0bea031d8a8718b12dfe4e05469d154
https://doi.org/10.1016/j.hrthm.2022.03.683