TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

Autor: Manon Baudic, Hiroshige Murata, Fernanda M. Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E. van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean J. Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T. Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M. Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

Abstract While 3D chromatin organization in topologically associating domains (TADs) and loops mediating regulatory element-promoter interactions is crucial for tissue-specific gene regulation, the extent of their involvement in human Mendelian disea

Externí odkaz: https://doaj.org/article/973ce46b9b9a4d84b5710238b42950a4

Sodium Glucose Cotransporter-2 Inhibitor Empagliflozin Reduces Infarct Size Independently of Sodium Glucose Cotransporter-2

Autor: Sha Chen, Qian Wang, Andriana Christodoulou, Nikolaos Mylonas, Diane Bakker, Rianne Nederlof, Markus W. Hollmann, Nina C. Weber, Ruben Coronel, Vincent Wakker, Vincent M. Christoffels, Ioanna Andreadou, Coert J. Zuurbier

Publikováno v: Circulation, 147(3), 276-279. Lippincott Williams and Wilkins

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4377d971e615f9c2eaded667418a57ee
https://doi.org/10.1161/circulationaha.122.061688

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

Genetic Dissection of a Super Enhancer Controlling the

Autor: Joyce C K, Man, Karel, van Duijvenboden, Peter H L, Krijger, Ingeborg B, Hooijkaas, Ingeborg, van der Made, Corrie, de Gier-de Vries, Vincent, Wakker, Esther E, Creemers, Wouter, de Laat, Bastiaan J, Boukens, Vincent M, Christoffels

Publikováno v: Circ Res

ANP (atrial natriuretic peptide) and BNP (B-type natriuretic peptide), encoded by the clustered genesTo explore the physiological functions of the enhancer cluster and elucidate the genomic mechanism underlyingBy analyzing epigenetic data we uncovere

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::122f4e3901c11ca0942167cfeb96a916
https://pubmed.ncbi.nlm.nih.gov/33411631

Genome-Wide Analysis Identifies an Essential Human TBX3 Pacemaker Enhancer

Autor: Brian L. Black, Karel van Duijvenboden, Stephanie Protze, Michael D. Wilson, Corrie de Gier-de Vries, Rajiv A Mohan, Vincent W. W. van Eif, Arie O. Verkerk, Fernanda M Bosada, Tanvi Sinha, Ian C. Scott, Auriane C. Ernault, Jeroen Bakkers, Xuefei Yuan, Vincent Wakker, Bastiaan J. Boukens, Ingeborg B. Hooijkaas, Vincent M. Christoffels

Publikováno v: Circ Res
Circulation Research, 127(12), 1522-1535. Lippincott Williams & Wilkins
Circulation research, 127(12), 1522-1535. Lippincott Williams and Wilkins
Circulation Research
Circulation Research, American Heart Association, 2020, 127 (12), pp.1522-1535. ⟨10.1161/CIRCRESAHA.120.317054⟩

Rationale: The development and function of the pacemaker cardiomyocytes of the sinoatrial node (SAN), the leading pacemaker of the heart, are tightly controlled by a conserved network of transcription factors, including TBX3 (T-box transcription fact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d71635892586d118c861bf7fd7d94417
https://europepmc.org/articles/PMC8153223/