Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews

Shimrit Oz,Hagith Yonath, Leonid Visochyk,Efrat Ofek,Natalie Landa,Haike Reznik-Wolf,Martin Ortiz-Genga,Lorenzo Monserrat,Tuvia Ben-Gal,Orly Goitein,Roy Beinart,Michael Glikson,Dov Freimark,Elon Pras,Michael Arad,Eyal Nof

International Journal of Cardiology（2020）

引用 9|浏览25

暂无评分

摘要

•Intronic variation in FLNC was found in three unrelated Jewish Ashkenazi families.•Variation carriers had a variable expression of arrhythmogenic cardiomyopathy.•The mutated FLNC transcript was degraded.•Filamin C was distributed normally in myocytes.

查看译文

关键词

Filamin C,Arrhythmogenic cardiomyopathy,Gene expression and regulation

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要