BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

325 related articles for article (PubMed ID: 19959132)

  • 1. 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; 6(12):1792-801. PubMed ID: 19959132
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A trafficking-deficient KCNQ1 mutation, T587M, causes a severe phenotype of long QT syndrome by interfering with intracellular hERG transport.
    Wu J; Sakaguchi T; Takenaka K; Toyoda F; Tsuji K; Matsuura H; Horie M
    J Cardiol; 2019 May; 73(5):343-350. PubMed ID: 30591322
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2.
    Cordeiro JM; Perez GJ; Schmitt N; Pfeiffer R; Nesterenko VV; Burashnikov E; Veltmann C; Borggrefe M; Wolpert C; Schimpf R; Antzelevitch C
    Can J Physiol Pharmacol; 2010 Dec; 88(12):1181-90. PubMed ID: 21164565
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Differential effects of the β-adrenoceptor blockers carvedilol and metoprolol on SQT1- and SQT2-mutant channels.
    Bodi I; Franke G; Pantulu ND; Wu K; Perez-Feliz S; Bode C; Zehender M; zur Hausen A; Brunner M; Odening KE
    J Cardiovasc Electrophysiol; 2013 Oct; 24(10):1163-71. PubMed ID: 23718892
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Trafficking-competent KCNQ1 variably influences the function of HERG long QT alleles.
    Hayashi K; Shuai W; Sakamoto Y; Higashida H; Yamagishi M; Kupershmidt S
    Heart Rhythm; 2010 Jul; 7(7):973-80. PubMed ID: 20348026
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome.
    Grunnet M; Behr ER; Calloe K; Hofman-Bang J; Till J; Christiansen M; McKenna WJ; Olesen SP; Schmitt N
    Heart Rhythm; 2005 Nov; 2(11):1238-49. PubMed ID: 16253915
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus.
    Yamashita F; Horie M; Kubota T; Yoshida H; Yumoto Y; Kobori A; Ninomiya T; Kono Y; Haruna T; Tsuji K; Washizuka T; Takano M; Otani H; Sasayama S; Aizawa Y
    J Mol Cell Cardiol; 2001 Feb; 33(2):197-207. PubMed ID: 11162126
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Allelic Complexity in Long QT Syndrome: A Family-Case Study.
    Zullo A; Frisso G; Detta N; Sarubbi B; Romeo E; Cordella A; Vanoye CG; Calabrò R; George AL; Salvatore F
    Int J Mol Sci; 2017 Jul; 18(8):. PubMed ID: 28749435
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.
    Aizawa Y; Ueda K; Scornik F; Cordeiro JM; Wu Y; Desai M; Guerchicoff A; Nagata Y; Iesaka Y; Kimura A; Hiraoka M; Antzelevitch C
    J Cardiovasc Electrophysiol; 2007 Sep; 18(9):972-7. PubMed ID: 17655673
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 9():87. PubMed ID: 18808722
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.
    Ohno S; Toyoda F; Zankov DP; Yoshida H; Makiyama T; Tsuji K; Honda T; Obayashi K; Ueyama H; Shimizu W; Miyamoto Y; Kamakura S; Matsuura H; Kita T; Horie M
    Hum Mutat; 2009 Apr; 30(4):557-63. PubMed ID: 19306396
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms.
    Aromolaran AS; Subramanyam P; Chang DD; Kobertz WR; Colecraft HM
    Cardiovasc Res; 2014 Dec; 104(3):501-11. PubMed ID: 25344363
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A hERG mutation E1039X produced a synergistic lesion on I
    Wu J; Mizusawa Y; Ohno S; Ding WG; Higaki T; Wang Q; Kohjitani H; Makiyama T; Itoh H; Toyoda F; James AF; Hancox JC; Matsuura H; Horie M
    Sci Rep; 2018 Feb; 8(1):3129. PubMed ID: 29449639
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 108(2):143-50. PubMed ID: 15500450
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.
    Oka Y; Itoh H; Ding WG; Shimizu W; Makiyama T; Ohno S; Nishio Y; Sakaguchi T; Miyamoto A; Kawamura M; Matsuura H; Horie M
    Circ J; 2010 Nov; 74(12):2562-71. PubMed ID: 20975234
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases.
    Winkel BG; Larsen MK; Berge KE; Leren TP; Nissen PH; Olesen MS; Hollegaard MV; Jespersen T; Yuan L; Nielsen N; Haunsø S; Svendsen JH; Wang Y; Kristensen IB; Jensen HK; Tfelt-Hansen J; Banner J
    J Cardiovasc Electrophysiol; 2012 Oct; 23(10):1092-8. PubMed ID: 22882672
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 67(3):467-75. PubMed ID: 15958262
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel intracellular transport-refractory mutations in KCNH2 identified in patients with symptomatic long QT syndrome.
    Fukumoto D; Ding WG; Wada Y; Fujii Y; Ichikawa M; Takayama K; Fukuyama M; Kato K; Itoh H; Makiyama T; Omatsu-Kanbe M; Matsuura H; Horie M; Ohno S
    J Cardiol; 2018 Apr; 71(4):401-408. PubMed ID: 29146210
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.