| 1 | KCNQ1, LQT1
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| Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.
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| Ruwald MH, Xu Parks X, Moss AJ, Zareba W, Baman J, McNitt S, Kanters JK, Shimizu W, Wilde AA, Jons C, Lopes CM.
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| Heart Rhythm 13(1):122-31. doi: 10.1016/j.hrthm.2015.08.033. Epub 2015 Aug 28.
2016
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| 2 | KCNQ1, LQT1
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| Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.
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| Harmer SC, Mohal JS, Royal AA, McKenna WJ, Lambiase PD, Tinker A.
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| Biochem J 462(1):133-42. doi: 10.1042/BJ20140425.
2014
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| 3 | KCNQ1, LQT1
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| Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.
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| Summers KM, Bokil NJ, Lu FT, Low JT, Baisden JM, Duffy D, Radford DJ.
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| Am J Med Genet A 152A(3):613-21.PMID: 20186784 2010
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| 4 | KCNQ1, LQT1
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| Congenital long QT syndrome caused by the F275S KCNQ1 mutation: mechanism of impaired channel function.
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| Li W, Wang QF, Du R, Xu QM, Ke QM, Wang B, Chen XL, Tian L, Zhang SY, Kang CL, Guan SM, Yang JG, Song ZF.
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| Biochem Biophys Res Commun 380(1):127-31. Epub 2009 Jan 22.
2009
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| 5 | KCNQ1, LQT1
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| LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1.
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| Peroz D, Dahimène S, Baró I, Loussouarn G, Mérot J.
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| J Biol Chem 284(8):5250-6. Epub 2008 Dec 29.
2009
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| 6 | KCNQ1, LQT1
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| The G314S KCNQ1 mutation exerts a dominant-negative effect on expression of KCNQ1 channels in oocytes.
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| Li W, Du R, Wang QF, Tian L, Yang JG, Song ZF.
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| Biochem Biophys Res Commun 383(2):206-9. Epub 2009 Apr 5.
2009
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| 7 | KCNQ1, LQT1
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| Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.
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| Sato A, Arimura T, Makita N, Ishikawa T, Aizawa Y, Ushinohama H, Aizawa Y, Kimura A.
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| J Biol Chem 284(50):35122-33. Epub 2009 Oct 13.PMID: 19825999 2009
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| 8 | KCNQ1, LQT1
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| A double-point mutation in the selectivity filter site of the KCNQ1 potassium channel results in a severe phenotype, LQT1, of long QT syndrome.
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| Ikrar T, Hanawa H, Watanabe H, Okada S, Aizawa Y, Ramadan MM, Komura S, Yamashita F, Chinushi M, Aizawa Y.
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| J Cardiovasc Electrophysiol 19(5):541-9. Epub 2008 Feb 4.PMID: 18266681 2008
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| 9 | KCNQ1, LQT1
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| Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.
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| Tsuji K, Akao M, Ishii TM, Ohno S, Makiyama T, Takenaka K, Doi T, Haruna Y, Yoshida H, Nakashima T, Kita T, Horie M.
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| J Mol Cell Cardiol 42(3):662-9. Epub 2007 Jan 5.
2007
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| 10 | KCNQ1, LQT1
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| Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
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| Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S.
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| Circulation 115(19):2481-9. Epub 2007 Apr 30.
2007
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| 11 | KCNQ1, LQT1, KCNE1, KCNE2, LQT5, LQT6, SCN5A, LQT3, KCNH2, LQT2
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| Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
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| Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzalez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.
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| Clin Genet 70(3):214-27. 2006
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| 12 | KCNQ1, LQT1
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| The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome.
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| Dahimène S, Alcoléa S, Naud P, Jourdon P, Escande D, Brasseur R, Thomas A, Baró I, Mérot J.
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| Circ Res 99(10):1076-83. Epub 2006 Oct 19.
2006
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| 13 | KCNQ1, LQT1
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| Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).
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| Wilson AJ, Quinn KV, Graves FM, Bitner-Glindzicz M, Tinker A.
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| Cardiovasc Res 67(3):476-86. 2005
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| 14 | KCNE1, KCNQ1, LQT1, LQT5
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| Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome.
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| Thomas D, Wimmer AB, Karle CA, Licka M, Alter M, Khalil M, Ulmer HE, Kathofer S, Kiehn J, Katus HA, Schoels W, Koenen M, Zehelein J.
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| Cardiovasc Res 67(3):487-97. 2005
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| 15 | LQT1, KCNQ1
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| Effective long-term control of cardiac events with beta-blockers in a family with a common LQT1 mutation.
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| Wedekind H, Schwarz M, Hauenschild S, Djonlagic H, Haverkamp W, Breithardt G, Wulfing T, Pongs O, Isbrandt D, Schulze-Bahr E.
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| Clin Genet 65(3):233-41. 2004
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| 16 | LQT1, KCNQ1
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| Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome.
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| Zehelein J, Thomas D, Khalil M, Wimmer AB, Koenen M, Licka M, Wu K, Kiehn J, Brockmeier K, Kreye VA, Karle CA, Katus HA, Ulmer HE, Schoels W.
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| Biochim Biophys Acta 1690(3):185-92. 2004
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| 17 | KCNQ1, LQT1
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| Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing.
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| Sharma D, Glatter KA, Timofeyev V, Tuteja D, Zhang Z, Rodriguez J, Tester DJ, Low R, Scheinman MM, Ackerman MJ, Chiamvimonvat N.
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| J Mol Cell Cardiol 37(1):79-89. 2004
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| 18 | KCNQ1, LQT1, JLNS1
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| Mutations in a Dominant-Negative Isoform Correlate with Phenotype in Inherited Cardiac Arrhythmias.
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| Mohammad-Panah R, et al.
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| Am J Hum Genet 64(4):1015-1023. 1999
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| 19 | KCNQ1, LQT1, JLNS1
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| Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.
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| Chen Q, et al.
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| Circulation 99(10):1344-7. 1999
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| 20 | KCNQ1, LQT1
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| Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
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| Larsen LA, et al.
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| Eur J Hum Genet 7(6):724-8 1999
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| 21 | KCNQ1, LQT1
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| Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.
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| Franqueza L, et al.
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| J Biol Chem 274(30):21063-70 1999
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| 22 | KCNQ1, LQT1
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| Molecular genetics of the long QT syndrome : two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
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| Saarinen K, Swan H, Kainulainen K, Toivonen L, Viitasalo M, Kontula K.
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| Hum Mutat 11(2):158-65. 1998
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| 23 | KCNQ1, LQT1
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| A dominant negative isoform of the long QT syndrome 1 gene product.
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| Demolombe S, et al.
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| J Biol Chem 273 : 6837-6843. 1998
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| 24 | KCNQ1, LQT1
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| Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.
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| Neyroud N, et al.
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| Eur J Hum Genet 6 : 129-133. 1998
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| 25 | KCNQ1, LQT1
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| New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
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| Li H, et al.
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| Circulation 97 : 1264-1269. 1998
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| 26 | KCNQ1, LQT1
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| Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome.
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| Kanters JK, et al.
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| J Cardiovasc Electrophysiol 9 : 620-624. 1998
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| 27 | LQT1, LQT3
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| Influence of the genotype on the clinical course of the long-QT syndrome.
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| Zareba W, et al.
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| N Engl J Med 339 : 960-965. 1998
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| 28 | KCNQ1, LQT1
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| Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
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| Itoh T, et al.
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| Hum Genet 103 : 290-294. 1998
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| 29 | KCNQ1, KCNH2, LQT1, LQT2
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| Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
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| Tanaka T, et al.
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| Circulation 95 : 565-567. 1997
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| 30 | KCNQ1, LQT1
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| KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias.
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| Yang WP, et al.
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| Proc Natl Acad Sci U S A 94 : 4017-4021. 1997
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| 31 | KCNQ1, JLNS1, LQT1
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| Molecular basis of the long-QT syndrome associated with deafness.
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| Splawski I, et al.
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| N Engl J Med 336 : 1562-1567. 1997
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| 32 | KCNQ1, LQT1
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| The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
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| van den Berg MH, Wilde AA, Robles de Medina EO, Meyer H, Geelen JL, Jongbloed RJ, Wellens HJ, Geraedts JP.
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| Hum Genet 100(3-4):356-61. 1997
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| 33 | JLNS1, KCNQ1, LQT1
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| Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.
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| Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ.
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| Hum Mol Genet 6(11):1943-9. 1997
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| 34 | KCNQ1, LQT1
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| Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
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| Shalaby FY, Levesque PC, Yang WP, Little WA, Conder ML, Jenkins-West T, Blanar MA.
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| Circulation 96(6):1733-6. 1997
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| 35 | KCNQ1, LQT1
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| Positional cloning of a novel potassium channel gene : KVLQT1 mutations cause cardiac arrhythmias.
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| Wang Q, et al.
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| Nat Genet 12 : 17-23. 1996
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| 36 | LQT1
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| Evidence of a long QT founder gene with varying phenotypic expression in South African families.
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| de Jager T, et al.
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| J Med Genet 33 : 567-573. 1996
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| 37 | KCNQ1, LQT1
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| KVLQT1 mutations in three families with familial or sporadic long QT syndrome.
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| Russell MW, et al.
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| Hum Mol Genet 5 : 1319-1324. 1996
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| 38 | LQT1
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| Linkage of the long QT syndrome to the short arm of chromosome 11 : use of five highly polymorphic markers towards more detailed localization of the mutant gene.
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| Kainulainen K, et al.
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| Hum Genet 96 : 395-400. 1995
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| 39 | HRAS, LQT1
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| Molecular analysis at the Harvey Ras-1 gene in patients with long QT syndrome.
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| Schulze-Bahr E, et al.
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| J Mol Med 73 : 565-569. 1995
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| 40 | LQT1
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| Localization of Romano-Ward long QT syndrome gene, LQTI, to the interval between tyrosine hydroxylase (TH) and D11S1349.
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| Russel MW, et al.
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| Am J Hum Genet 57 : 503-507. 1995
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| 41 | LQT1, LQT2, LQT3, IDDM2
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| Genetics of the long QT syndrome.
|
| Keating M.
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| J Cardiovasc Electrophysiol 5 : 146-153. 1994
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| 42 | HRAS, LQT1
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| Exclusion of HRAS from long QT locus.
|
| Roy N, et al.
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| Nat Genet 8 : 113-114. 1994
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| 43 | LQT1, LQT2, LQT3
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| No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family : evidence for genetic heterogeneity.
|
| Ko YL, et al.
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| Hum Genet 94 : 364-366. 1994
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| 44 | LQT1
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| Genetic linkage analyses of Romano-Ward syndrome (RWS) in 13 Japanese families.
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| Tanaka T, et al.
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| Hum Genet 94 : 380-384. 1994
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| 45 | LQT1
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| Characterization of a recombination event excluding the Harvey-ras-1 (H-ras-1) locus in a Romano-Ward Long QT syndrome family linked to chromosome 11p15 and isolation of a polymorphic repeat telomeric to H-ras-1. (abstr)
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| Russell MW, et al.
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| Am J Hum Genet 55 : A353. 1994
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| 46 | LQT1
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| Analysis of HLA and disease susceptibility : chromosome 6 genes and sex influence long-QT phenotype.
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| Weitkamp LR, et al.
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| Am J Hum Genet 55 : 1230-1241. 1994
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| 47 | LQT1, LQT2, LQT3, IDDM2
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| Evidence of genetic and phenotypic heterogeneity in the Romano-Ward syndrome.
|
| Dean JCS, et al.
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| J Med Genet 30 : 947-950. 1993
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| 48 | LQT1, LQT2, LQT3
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| Locus heterogeneity of autosomal dominant long QT syndrome.
|
| Curran M, et al.
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| J Clin Invest 92 : 799-803. 1993
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| 49 | LQT1, IDDM2
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| Long QT syndrome with insulin-dependent diabetes mellitus : contiguous gene syndrome on chromosome 11p.
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| Ohzeki T, et al.
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| J Inter Med 234 : 227-229. 1993
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| 50 | LQT1, LQT2, LQT3
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| Evidence of genetic heterogeneity in the long QT syndrome.
|
| Benhorin J, et al.
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| Science 260 : 1960-1962. 1993
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| 51 | LQT1, LQT2, LQT3
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| The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome.
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| Vincent GM, et al.
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| N Engl J Med 327 : 846-852. 1992
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| 52 | LQT1
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| Linkage of cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene.
|
| Keating M, et al.
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| Science 251 : 704-706. 1991
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| 53 | LQT1, LQT2, LQT3
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| Exclusion data for the long QT (Romano-Ward) syndrome gene on the chromosomal region 6p21-6cen.
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| Yurov YB, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1918. 1991
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| 54 | LQT1
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| Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11.
|
| Keating M, et al.
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| Am J Hum Genet 49 : 1335-1339. 1991
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| 55 | LQT1
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| ras p21 and GAP inhibit coupling of muscarinic receptors to atrial K+ channels.
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| Yatani A, et al.
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| Cell 61 : 769-776. 1990
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