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

Targeting the Microtubule EB1-CLASP2 Complex Modulates Na(V)1.5 at Intercalated Discs

靶向微管EB1-CLASP2复合物调节闰盘中的Na(V)1.5

Marchal, Gerard A; Jouni, Mariam; Chiang, David Y; Pérez-Hernández, Marta; Podliesna, Svitlana; Yu, Nuo; Casini, Simona; Potet, Franck; Veerman, Christiaan C; Klerk, Mischa; Lodder, Elisabeth M; Mengarelli, Isabella; Guan, Kaomei; Vanoye, Carlos G; Rothenberg, Eli; Charpentier, Flavien; Redon, Richard; George, Alfred L Jr; Verkerk, Arie O; Bezzina, Connie R; MacRae, Calum A; Burridge, Paul W; Delmar, Mario; Galjart, Niels; Portero, Vincent; Remme, Carol Ann

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

GNB5 的基因变异通过增加乙酰胆碱激活的钾电流 (I(K,ACh)) 来增强胆碱能反应,从而导致心动过缓

Veerman Christiaan C, Mengarelli Isabella, Koopman Charlotte D, Wilders Ronald, van Amersfoorth Shirley C, Bakker Diane, Wolswinkel Rianne, Hababa Mariam, de Boer Teun P, Guan Kaomei, Milnes James, Lodder Elisabeth M, Bakkers Jeroen, Verkerk Arie O, Bezzina Connie R

Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation.

人类诱导多能干细胞衍生的心肌细胞中胎儿型 SCN5A 同工型向成人型 SCN5A 同工型的转变揭示了导致传导疾病的突变的细胞表型

Veerman Christiaan C, Mengarelli Isabella, Lodder Elisabeth M, Kosmidis Georgios, Bellin Milena, Zhang Miao, Dittmann Sven, Guan Kaomei, Wilde Arthur A M, Schulze-Bahr Eric, Greber Boris, Bezzina Connie R, Verkerk Arie O

hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities

来自未发现突变的布鲁加达综合征患者的hiPSC衍生心肌细胞未表现出明显的细胞电生理异常。

Veerman, Christiaan C; Mengarelli, Isabella; Guan, Kaomei; Stauske, Michael; Barc, Julien; Tan, Hanno L; Wilde, Arthur A M; Verkerk, Arie O; Bezzina, Connie R