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Journal of Molecular and Cellular Cardiology
Volume 44, Issue 3
, Pages 502-509
, March 2008
A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome
References
- . A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995;80:795–803
- . A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell. 1995;81:299–307
- . HERG, a human inward rectifier in the voltage-gated potassium channel family. Science. 1995;269:92–95
- Properties of HERG channels stably expressed in HEK 293 cells studied at physiological temperature. Biophys J. 1998;74:230–241
- Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000;102:1178–1185
- Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005;294:2975–2980
- . Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005;2:507–517
- An intronic mutation causes long QT syndrome. J Am Coll Cardiol. 2004;44:1283–1291
- A novel splice mutation of HERG in a Chinese family with long QT syndrome. J Zhejiang Univ Sci B. 2005;6:626–630
- . Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia. Proc Natl Acad Sci USA. 1996;93:2208–2212
- . HERG channel dysfunction in human long QT syndrome: Intracellular transport and functional defects. J Biol Chem. 1998;273:21061–21066
- . Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome. J Mol Cell Cardiol. 2004;37:1225–1233
- . Biology of cardiac arrhythmias: ion channel protein trafficking. Circ Res. 2004;94:1418–1428
- HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency. Cardiovasc Res. 2005;67:467–475
- . The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 1992;90:41–54
- . Pre-mRNA splicing and human disease. Genes Dev. 2003;17:419–437
- . Pharmacological rescue of trafficking defective HERG channels formed by coassembly of wild type and long QT mutant N470D subunits. Am J Physiol Heart Circ Physiol. 2004;287:H652–H658
- . Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long QT syndrome. Circulation. 2007;116:17–24
- . Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. Genet Med. 2007;9:23–33
- . Role of glycosylation in the cell surface expression and stability of HERG potassium channels. Am J Physiol Heart Circ Physiol. 2002;283:H77–H84
- . Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome: Pharmacological and temperature effects. J Biol Chem. 1999;274:31123–31126
- Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006;113:365–373
- Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts. Circulation. 1999;100:1077–1084
- Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome. J Mol Cell Cardiol. 2005;38:555–560
- Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy. J Med Genet. 2005;42:e29
- Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene. J Mol Cell Cardiol. 2007;42:662–669
- Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange–Nielsen syndrome. J Biol Chem. 2006;281:35397–35403
- . RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 1987;15:7155–7174
- . Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. J Biol Chem. 2006;280:4069–4074
- . Role of the cytosolic chaperones Hsp70 and Hsp90 in maturation of the cardiac potassium channel HERG. Circ Res. 2003;92:87–100
- . Degradation of trafficking defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway. J Biol Chem. 2005;280:19419–19425
- . Identification of the cyclic-nucleotide-binding domain as a conserved determinant of ion-channel cell-surface localization. J Cell Sci. 2005;118:2803–2812
- Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002;105:794–799
PII: S0022-2828(08)00006-0
doi: 10.1016/j.yjmcc.2008.01.002
© 2008 Elsevier Inc. All rights reserved.
« Previous
Next »
Journal of Molecular and Cellular Cardiology
Volume 44, Issue 3
, Pages 502-509
, March 2008
