Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

Heterozygous mutations in KCNQ1 cause type 1 long QT syndrome (LQT1), a disease characterized by prolonged heart rate-corrected QT interval (QTc) and life-threatening arrhythmias. It is unknown why disease penetrance and expressivity is so variable between individuals hosting identical mutations. We...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	European heart journal 2012-03, Vol.33 (6), p.714-723
Hauptverfasser:	AMIN, Ahmad S, GIUDICESSI, John R, MÜLLER, Martina, WIJNEN, Wino J, TAN, Hanno L, BEZZINA, Connie R, CREEMERS, Esther E, WILDE, Arthur A. M, ACKERMAN, Michael J, PINTO, Yigal M, TIJSEN, Anke J, SPANJAART, Anne M, RECKMAN, Yolan J, KLEMENS, Christine A, TANCK, Michael W, KAPPLINGER, Jamie D, HOFMAN, Nynke, SINNER, Moritz F
Format:	Artikel
Sprache:	eng
Schlagworte:	3' Untranslated Regions - genetics Adult Alleles Animals Biological and medical sciences Cardiac dysrhythmias Cardiology. Vascular system Electrocardiography Fasttrack Clinical Female Genetic Variation Heart Heterozygote Humans KCNQ1 Potassium Channel - genetics Luciferases - metabolism Male Medical sciences Mutation - genetics Myocytes, Cardiac - enzymology Polymorphism, Single Nucleotide - genetics Rats Romano-Ward Syndrome - enzymology Romano-Ward Syndrome - genetics Transfection
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!