메뉴 건너뛰기




Volumn 18, Issue 1, 2017, Pages

TRPM4 non-selective cation channel variants in long QT syndrome

Author keywords

Arrhythmia; Electrophysiology; Gene mutation; Long QT syndrome; Outward rectifying current; TRPM4

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; PANTOTHENATE KINASE 2; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5; TRANSIENT RECEPTOR POTENTIAL CHANNEL M4; VOLTAGE GATED SODIUM CHANNEL BETA 4 SUBUNIT; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; TRPM4 PROTEIN, HUMAN;

EID: 85015688744     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-017-0397-4     Document Type: Article
Times cited : (30)

References (29)
  • 3
    • 84883270737 scopus 로고    scopus 로고
    • Long QT syndrome: beyond the causal mutation
    • Amin AS, Pinto YM, Wilde AAM. Long QT syndrome: beyond the causal mutation. J Physiol. 2013;591:4125-39.
    • (2013) J Physiol , vol.591 , pp. 4125-4139
    • Amin, A.S.1    Pinto, Y.M.2    Wilde, A.A.M.3
  • 4
    • 84955451158 scopus 로고    scopus 로고
    • Genetics of long-QT syndrome
    • Nakano Y, Shimizu W. Genetics of long-QT syndrome. J Hum Genet. 2016;61:51-5.
    • (2016) J Hum Genet , vol.61 , pp. 51-55
    • Nakano, Y.1    Shimizu, W.2
  • 5
    • 79960867817 scopus 로고    scopus 로고
    • HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
    • Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm. 2011;8:1308-39.
    • (2011) Heart Rhythm , vol.8 , pp. 1308-1339
    • Ackerman, M.J.1    Priori, S.G.2    Willems, S.3    Berul, C.4    Brugada, R.5    Calkins, H.6
  • 6
    • 0037012649 scopus 로고    scopus 로고
    • TRPM4 is a Ca2 + -activated nonselective cation channel mediating cell membrane depolarization
    • Launay P, Fleig A, Perraud AL, Scharenberg AM, Penner R, Kinet JP. TRPM4 is a Ca2 + -activated nonselective cation channel mediating cell membrane depolarization. Cell. 2002;109:397-407.
    • (2002) Cell , vol.109 , pp. 397-407
    • Launay, P.1    Fleig, A.2    Perraud, A.L.3    Scharenberg, A.M.4    Penner, R.5    Kinet, J.P.6
  • 7
    • 4043127405 scopus 로고    scopus 로고
    • Functional characterization of a Ca(2+)-activated non-selective cation channel in human atrial cardiomyocytes
    • Guinamard R, Chatelier A, Demion M, Potreau D, Patri S, Rahmati M, et al. Functional characterization of a Ca(2+)-activated non-selective cation channel in human atrial cardiomyocytes. J Physiol. 2004;558:75-83.
    • (2004) J Physiol , vol.558 , pp. 75-83
    • Guinamard, R.1    Chatelier, A.2    Demion, M.3    Potreau, D.4    Patri, S.5    Rahmati, M.6
  • 8
    • 84919784836 scopus 로고    scopus 로고
    • Trpm4 gene invalidation leads to cardiac hypertrophy and electrophysiological alterations
    • Demion M, Thireau J, Gueffier M, Finan A, Khoueiry Z, Cassan C, et al. Trpm4 gene invalidation leads to cardiac hypertrophy and electrophysiological alterations. PLoS One. 2014;9:e115256.
    • (2014) PLoS One , vol.9
    • Demion, M.1    Thireau, J.2    Gueffier, M.3    Finan, A.4    Khoueiry, Z.5    Cassan, C.6
  • 9
    • 70349215874 scopus 로고    scopus 로고
    • Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I
    • Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G, et al. Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. J Clin Invest. 2009;119:2737-44.
    • (2009) J Clin Invest , vol.119 , pp. 2737-2744
    • Kruse, M.1    Schulze-Bahr, E.2    Corfield, V.3    Beckmann, A.4    Stallmeyer, B.5    Kurtbay, G.6
  • 10
    • 78649264172 scopus 로고    scopus 로고
    • Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease
    • Liu H, El Zein L, Kruse M, Guinamard R, Beckmann A, Bozio A, et al. Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease. Circ Cardiovasc Genet. 2010;3:374-85.
    • (2010) Circ Cardiovasc Genet , vol.3 , pp. 374-385
    • Liu, H.1    Zein, L.2    Kruse, M.3    Guinamard, R.4    Beckmann, A.5    Bozio, A.6
  • 11
    • 84873828417 scopus 로고    scopus 로고
    • Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel
    • Liu H, Chatel S, Simard C, Syam N, Salle L, Probst V, et al. Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel. PLoS One. 2013;8:e54131.
    • (2013) PLoS One , vol.8
    • Liu, H.1    Chatel, S.2    Simard, C.3    Syam, N.4    Salle, L.5    Probst, V.6
  • 13
    • 84888610885 scopus 로고    scopus 로고
    • World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects
    • World Medical Association. World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects. JAMA. 2013;310:2191-4.
    • (2013) JAMA , vol.310 , pp. 2191-2194
  • 14
    • 81355132248 scopus 로고    scopus 로고
    • QTc behavior during exercise and genetic testing for the long-QT syndrome
    • Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation. 2011;124:2181-4.
    • (2011) Circulation , vol.124 , pp. 2181-2184
    • Schwartz, P.J.1    Crotti, L.2
  • 15
    • 78650579692 scopus 로고    scopus 로고
    • 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, et al. Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. J Am Coll Cardiol. 2011;57:40-7.
    • (2011) J Am Coll Cardiol , vol.57 , pp. 40-47
    • Barc, J.1    Briec, F.2    Schmitt, S.3    Kyndt, F.4    Cunff, M.5    Baron, E.6
  • 16
    • 42149169648 scopus 로고    scopus 로고
    • 9-phenanthrol inhibits human TRPM4 but not TRPM5 cationic channels
    • Grand T, Demion M, Norez C, Mettey Y, Launay P, Becq F, et al. 9-phenanthrol inhibits human TRPM4 but not TRPM5 cationic channels. Br J Pharmacol. 2008;153:1697-705.
    • (2008) Br J Pharmacol , vol.153 , pp. 1697-1705
    • Grand, T.1    Demion, M.2    Norez, C.3    Mettey, Y.4    Launay, P.5    Becq, F.6
  • 17
    • 67749137351 scopus 로고    scopus 로고
    • Functional annotations improve the predictive score of human disease-related mutations in proteins
    • Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat. 2009;30:1237-44.
    • (2009) Hum Mutat , vol.30 , pp. 1237-1244
    • Calabrese, R.1    Capriotti, E.2    Fariselli, P.3    Martelli, P.L.4    Casadio, R.5
  • 18
    • 33751013750 scopus 로고    scopus 로고
    • Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information
    • Capriotti E, Calabrese R, Casadio R. Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information. Bioinformatics Oxf Engl. 2006;22:2729-34.
    • (2006) Bioinformatics Oxf Engl , vol.22 , pp. 2729-2734
    • Capriotti, E.1    Calabrese, R.2    Casadio, R.3
  • 19
    • 34547100092 scopus 로고    scopus 로고
    • SNAP: predict effect of non-synonymous polymorphisms on function
    • Bromberg Y, Rost B. SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res. 2007;35:3823-35.
    • (2007) Nucleic Acids Res , vol.35 , pp. 3823-3835
    • Bromberg, Y.1    Rost, B.2
  • 20
    • 84896698938 scopus 로고    scopus 로고
    • PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations
    • Bendl J, Stourac J, Salanda O, Pavelka A, Wieben ED, Zendulka J, et al. PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. PLoS Comput Biol. 2014;10:e1003440.
    • (2014) PLoS Comput Biol , vol.10
    • Bendl, J.1    Stourac, J.2    Salanda, O.3    Pavelka, A.4    Wieben, E.D.5    Zendulka, J.6
  • 21
    • 84857687674 scopus 로고    scopus 로고
    • Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances
    • Stallmeyer B, Zumhagen S, Denjoy I, Duthoit G, Hébert J-L, Ferrer X, et al. Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances. Hum Mutat. 2012;33:109-17.
    • (2012) Hum Mutat , vol.33 , pp. 109-117
    • Stallmeyer, B.1    Zumhagen, S.2    Denjoy, I.3    Duthoit, G.4    Hébert, J.-L.5    Ferrer, X.6
  • 26
    • 84874941940 scopus 로고    scopus 로고
    • The TRPM4 non-selective cation channel contributes to the mammalian atrial action potential
    • Simard C, Hof T, Keddache Z, Launay P, Guinamard R. The TRPM4 non-selective cation channel contributes to the mammalian atrial action potential. J Mol Cell Cardiol. 2013;59:11-9.
    • (2013) J Mol Cell Cardiol , vol.59 , pp. 11-19
    • Simard, C.1    Hof, T.2    Keddache, Z.3    Launay, P.4    Guinamard, R.5
  • 27
    • 84897108860 scopus 로고    scopus 로고
    • Increased β-adrenergic inotropy in ventricular myocardium from Trpm4-/- mice
    • Mathar I, Kecskes M, Van der Mieren G, Jacobs G, Camacho Londoño JE, Uhl S, et al. Increased β-adrenergic inotropy in ventricular myocardium from Trpm4-/- mice. Circ Res. 2014;114:283-94.
    • (2014) Circ Res , vol.114 , pp. 283-294
    • Mathar, I.1    Kecskes, M.2    Mieren, G.3    Jacobs, G.4    Camacho Londoño, J.E.5    Uhl, S.6
  • 28
  • 29
    • 5344223383 scopus 로고    scopus 로고
    • Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004;119:19-31.
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1    Timothy, K.W.2    Sharpe, L.M.3    Decher, N.4    Kumar, P.5    Bloise, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.