Associated Papers
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
41147441 (PubMed )
Supplement: KCHL_A_2580177_SM8819.pdf
Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness.
Oertli A et al.
International Journal of Molecular Sciences, 2021
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.
Giacomelli E et al.
Cellular and Molecular Life Sciences : Cmls, 2017
New iPSC for old long QT syndrome modeling: putting the evidence into perspective.
Li G et al.
Experimental Biology and Medicine (maywood, N.j.), 2014
Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.
Jagu B et al.
Frontiers in Physiology, 2013
Modeling long-QT syndromes with iPS cells.
Sinnecker D et al.
Journal of Cardiovascular Translational Research, 2013
Disease characterization using LQTS-specific induced pluripotent stem cells.
Egashira T et al.
Cardiovascular Research, 2012
Extreme QT prolongation during therapeutic hypothermia after cardiac arrest due to long QT syndrome.
Nishiyama N et al.
The American Journal of Emergency Medicine, 2012
Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.
Sato A et al.
The Journal of Biological Chemistry, 2009
Coinheritance of long QT syndrome and Kearns-Sayre syndrome.
Skinner JR et al.
Heart Rhythm, 2007
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
Zafari Z et al.
Journal of Electrocardiology, 0
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