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Unformatted text preview: ild-type channel function by intracellular retention of heteromeric channels. Our
results demonstrate that 2398+1G>C activates a cryptic site and generates a full-length hERG protein Long QT syndrome type 2 (LQT2) is caused by mutations in the human ether-a-go-gorelated Long QT 2 IPS Cells Become Functional Myocytes
Frank Fabris 0 µm hES 2
Long QT original article Patient-Specific Induced Pluripotent StemCell Models for Long-QT Syndrome
Alessandra Moretti, Ph.D., Milena Bellin, Ph.D., Andrea Welling, Ph.D.,
Christian Billy Jung, M.Sc., Jason T. Lam, Ph.D., Lorenz Bott-Flügel, M.D.,
Tatjana Dorn, Ph.D., Alexander Goedel, M.D., Christian Höhnke, M.D.,
Franz Hofmann, M.D., Melchior Seyfarth, M.D., Daniel Sinnecker, M.D.,
Albert Schömig, M.D., and Karl-Ludwig Laugwitz, M.D.
T he New Eng land Jour nal of Medicine A BS T R AC T P ROGNOSTIC IMPORTANCE OF ELEVATED JUGULAR VENOUS PRESSURE
AND A THIRD HEART SOUND IN PATIENTS WITH HEART FAILURE
Long-QT syndromes are heritable diseases associated with prolongation of the QT From the Cardiology Division, First Deinterval on an electrocardiogram and a high risk of sudden cardiac death due to partment of Medicine (A.M., M.B., C.B.J.,
MARK H. DRAZNER, M.D., J. EDUARDO RAME, M.D., M.PHIL., LYNNE W. STEVENSON, M.D., J.T.L., L.B.-F., T.D., A.G., M.S., D.S., A.S.,
ventricular tachyarrhythmia. ANIEL L. DRIES, M.D., M.P.H.1, mutations occur in the K.-L.L.), and the Plastic Surgery DepartIn long-QT syndrome type
KCNQ1 gene, which encodes the repolarizing potassium channel mediating the de- ment (C.H.), Klinikum rechts der Isar; the
Cardiology Department, German Heart
layed rectifier IKs current. Center Munich (A.M., M.B., C.B.J., J.T.L.,
L.B.-F., T.D., A.G., M.S., D.S., A.S., K.-L.L.);
and the mocommon illness such as chronic heart failure mayInstitute of Pharmacology and
We screened a family affectedvalue of
by long-QT tivate physicians and trainees to refine their diagnos- F.H.) — all at the Techsyndrome type 1
identified an auto- Toxicology (A.W.,
Background The independent prog...
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- Fall '14