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Journal Abstract Search

313 related items for PubMed ID: 23010577

  • 1. A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome.
    Liu L, Hayashi K, Kaneda T, Ino H, Fujino N, Uchiyama K, Konno T, Tsuda T, Kawashiri MA, Ueda K, Higashikata T, Shuai W, Kupershmidt S, Higashida H, Yamagishi M.
    Heart Rhythm; 2013 Jan; 10(1):61-7. PubMed ID: 23010577
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  • 2. KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
    Liu W, Yang J, Hu D, Kang C, Li C, Zhang S, Li P, Chen Z, Qin X, Ying K, Li Y, Li Y, Li Z, Cheng X, Li L, Qi Y, Chen S, Wang Q.
    Hum Mutat; 2002 Dec; 20(6):475-6. PubMed ID: 12442276
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  • 3. [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].
    Liu WL, Hu DY, Li P, Li CL, Qin XG, Li YT, Li L, Li ZM, Dong W, Qi Y, Wang Q.
    Zhonghua Nei Ke Za Zhi; 2006 Jun; 45(6):463-6. PubMed ID: 16831322
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  • 4. Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.
    Barc J, Briec F, Schmitt S, Kyndt F, Le Cunff M, Baron E, Vieyres C, Sacher F, Redon R, Le Caignec C, Le Marec H, Probst V, Schott JJ.
    J Am Coll Cardiol; 2011 Jan 04; 57(1):40-7. PubMed ID: 21185499
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  • 5. Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome.
    Yamaguchi M, Shimizu M, Ino H, Terai H, Hayashi K, Kaneda T, Mabuchi H, Sumita R, Oshima T, Hoshi N, Higashida H.
    Clin Sci (Lond); 2005 Feb 04; 108(2):143-50. PubMed ID: 15500450
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  • 6. Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by impairment of KCNH2 membrane localization: evidence for clinically significant IKr-IKs alpha-subunit interaction.
    Biliczki P, Girmatsion Z, Brandes RP, Harenkamp S, Pitard B, Charpentier F, Hébert TE, Hohnloser SH, Baró I, Nattel S, Ehrlich JR.
    Heart Rhythm; 2009 Dec 04; 6(12):1792-801. PubMed ID: 19959132
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  • 7. HERG-F463L potassium channels linked to long QT syndrome reduce I(Kr) current by a trafficking-deficient mechanism.
    Yang HT, Sun CF, Cui CC, Xue XL, Zhang AF, Li HB, Wang DQ, Shu J.
    Clin Exp Pharmacol Physiol; 2009 Aug 04; 36(8):822-7. PubMed ID: 19215240
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  • 9. Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
    Zhang X, Chen S, Zhang L, Liu M, Redfearn S, Bryant RM, Oberti C, Vincent GM, Wang QK.
    BMC Med Genet; 2008 Sep 23; 9():87. PubMed ID: 18808722
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  • 10. Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.
    Andrsova I, Novotny T, Kadlecova J, Bittnerova A, Vit P, Florianova A, Sisakova M, Gaillyova R, Manouskova L, Spinar J.
    J Electrocardiol; 2012 Sep 23; 45(6):746-51. PubMed ID: 22727609
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  • 11. HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.
    Paulussen AD, Raes A, Jongbloed RJ, Gilissen RA, Wilde AA, Snyders DJ, Smeets HJ, Aerssens J.
    Cardiovasc Res; 2005 Aug 15; 67(3):467-75. PubMed ID: 15958262
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  • 12. Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome.
    Rossenbacker T, Mubagwa K, Jongbloed RJ, Vereecke J, Devriendt K, Gewillig M, Carmeliet E, Collen D, Heidbüchel H, Carmeliet P.
    Circulation; 2005 Mar 01; 111(8):961-8. PubMed ID: 15699249
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  • 13. Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome.
    Eddy CA, MacCormick JM, Chung SK, Crawford JR, Love DR, Rees MI, Skinner JR, Shelling AN.
    Heart Rhythm; 2008 Sep 01; 5(9):1275-81. PubMed ID: 18774102
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