日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand

泰国SCN5A基因中一种罕见的非编码增强子变异导致布鲁加达综合征高发

Walsh, Roddy; Mauleekoonphairoj, John; Mengarelli, Isabella; Bosada, Fernanda M; Verkerk, Arie O; van Duijvenboden, Karel; Poovorawan, Yong; Wongcharoen, Wanwarang; Sutjaporn, Boosamas; Wandee, Pharawee; Chimparlee, Nitinan; Chokesuwattanaskul, Ronpichai; Vongpaisarnsin, Kornkiat; Dangkao, Piyawan; Wu, Cheng-I; Tadros, Rafik; Amin, Ahmad S; Lieve, Krystien V V; Postema, Pieter G; Kooyman, Maarten; Beekman, Leander; Sahasatas, Dujdao; Amnueypol, Montawatt; Krittayaphong, Rungroj; Prechawat, Somchai; Anannab, Alisara; Makarawate, Pattarapong; Ngarmukos, Tachapong; Phusanti, Keerapa; Veerakul, Gumpanart; Kingsbury, Zoya; Newington, Taksina; Maheswari, Uma; Ross, Mark T; Grace, Andrew; Lambiase, Pier D; Behr, Elijah R; Schott, Jean-Jacques; Redon, Richard; Barc, Julien; Christoffels, Vincent M; Wilde, Arthur A M; Nademanee, Koonlawee; Bezzina, Connie R; Khongphatthanayothin, Apichai

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

TAD 边界缺失导致 PITX2 相关的心脏电和结构缺陷

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 Scou

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

心房颤动相关调节区域调节心脏 Tbx5 水平和心律失常易感性

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

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

患者特异性TBX5-G125R变异体诱发严重的转录失调和心房功能障碍

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

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

常见基因变异会增加大动脉转位的风险

Škorić-Milosavljević, Doris; Tadros, Rafik; Bosada, Fernanda M; Tessadori, Federico; van Weerd, Jan Hendrik; Woudstra, Odilia I; Tjong, Fleur V Y; Lahrouchi, Najim; Bajolle, Fanny; Cordell, Heather J; Agopian, A J; Blue, Gillian M; Barge-Schaapveld, Daniela Q C M; Gewillig, Marc; Preuss, Christoph; Lodder, Elisabeth M; Barnett, Phil; Ilgun, Aho; Beekman, Leander; van Duijvenboden, Karel; Bokenkamp, Regina; Müller-Nurasyid, Martina; Vliegen, Hubert W; Konings, Thelma C; van Melle, Joost P; van Dijk, Arie P J; van Kimmenade, Roland R J; Roos-Hesselink, Jolien W; Sieswerda, Gertjan T; Meijboom, Folkert; Abdul-Khaliq, Hashim; Berger, Felix; Dittrich, Sven; Hitz, Marc-Phillip; Moosmann, Julia; Riede, Frank-Thomas; Schubert, Stephan; Galan, Pilar; Lathrop, Mark; Munter, Hans M; Al-Chalabi, Ammar; Shaw, Christopher E; Shaw, Pamela J; Morrison, Karen E; Veldink, Jan H; van den Berg, Leonard H; Evans, Sylvia; Nobrega, Marcelo A; Aneas, Ivy; Radivojkov-Blagojević, Milena; Meitinger, Thomas; Oechslin, Erwin; Mondal, Tapas; Bergin, Lynn; Smythe, John F; Altamirano-Diaz, Luis; Lougheed, Jane; Bouma, Berto J; Chaix, Marie-A; Kline, Jennie; Bassett, Anne S; Andelfinger, Gregor; van der Palen, Roel L F; Bouvagnet, Patrice; Clur, Sally-Ann B; Breckpot, Jeroen; Kerstjens-Frederikse, Wilhelmina S; Winlaw, David S; Bauer, Ulrike M M; Mital, Seema; Goldmuntz, Elizabeth; Keavney, Bernard; Bonnet, Damien; Mulder, Barbara J; Tanck, Michael W T; Bakkers, Jeroen; Christoffels, Vincent M; Boogerd, Cornelis J; Postma, Alex V; Bezzina, Connie R

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

编码 VEGF 受体 2 的 KDR 基因的罕见变异与法洛四联症相关。

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; Dombrowsky, Gregor; Williams, Simon G; Lesurf, Robert; Tjong, Fleur V Y; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A; Mulder, Barbara J; Mefford, Heather C; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E; Roberts, Amy; Lodder, Elisabeth M; Keavney, Bernard D; Clur, Sally-Ann B; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M; Postma, Alex V; Bezzina, Connie R

Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

更正:KDR基因(编码VEGF受体2)的罕见变异与法洛四联症相关

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; Dombrowsky, Gregor; Williams, Simon G; Lesurf, Robert; Tjong, Fleur V Y; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A; Mulder, Barbara J; Mefford, Heather C; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E; Roberts, Amy; Lodder, Elisabeth M; Keavney, Bernard D; Clur, Sally-Ann B; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M; Postma, Alex V; Bezzina, Connie R

Epigenetic and Transcriptional Networks Underlying Atrial Fibrillation

心房颤动的表观遗传和转录网络

van Ouwerkerk, Antoinette F; Hall, Amelia W; Kadow, Zachary A; Lazarevic, Sonja; Reyat, Jasmeet S; Tucker, Nathan R; Nadadur, Rangarajan D; Bosada, Fernanda M; Bianchi, Valerio; Ellinor, Patrick T; Fabritz, Larissa; Martin, James F; de Laat, Wouter; Kirchhof, Paulus; Moskowitz, Ivan P; Christoffels, Vincent M

Genome-Wide Analysis Identifies an Essential Human TBX3 Pacemaker Enhancer

全基因组分析鉴定出一种重要的人类TBX3起搏器增强子

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

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

T-box 转录因子 3 控制小鼠房室传导系统功能的转录程序

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