Ontology highlight
ABSTRACT:
SUBMITTER: Le Scouarnec S
PROVIDER: S-EPMC2563133 | biostudies-other | 2008 Oct
REPOSITORIES: biostudies-other
Le Scouarnec Solena S Bhasin Naina N Vieyres Claude C Hund Thomas J TJ Cunha Shane R SR Koval Olha O Marionneau Celine C Chen Biyi B Wu Yuejin Y Demolombe Sophie S Song Long-Sheng LS Le Marec Hervé H Probst Vincent V Schott Jean-Jacques JJ Anderson Mark E ME Mohler Peter J PJ
Proceedings of the National Academy of Sciences of the United States of America 20081001 40
The identification of nearly a dozen ion channel genes involved in the genesis of human atrial and ventricular arrhythmias has been critical for the diagnosis and treatment of fatal cardiovascular diseases. In contrast, very little is known about the genetic and molecular mechanisms underlying human sinus node dysfunction (SND). Here, we report a genetic and molecular mechanism for human SND. We mapped two families with highly penetrant and severe SND to the human ANK2 (ankyrin-B/AnkB) locus. Mi ...[more]