The KCNH2-IVS9-28A/G mutation causes aberrant isoform expression and hERG trafficking defect in cardiomyocytes derived from patients affected by Long QT Syndrome type 2.
暂无分享,去创建一个
P. Schwartz | M. Mura | A. Mehta | C. Ramachandra | R. Zappatore | Federica Pisano | M. Ciuffreda | V. Barbaccia | L. Crotti | W. Shim | M. Gnecchi
[1] M. Mura,et al. Induced pluripotent stem cell technology: Toward the future of cardiac arrhythmias. , 2017, International journal of cardiology.
[2] C. Mummery,et al. Inherited heart disease – what can we expect from the second decade of human iPS cell research? , 2016, FEBS letters.
[3] C. January,et al. Molecular pathogenesis of long QT syndrome type 2 , 2016, Journal of arrhythmia.
[4] Michael J Ackerman,et al. The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy. , 2013, European heart journal.
[5] Lia Crotti,et al. Long-QT syndrome: from genetics to management. , 2012, Circulation. Arrhythmia and electrophysiology.
[6] Stefan A. Mann,et al. hERG K(+) channels: structure, function, and clinical significance. , 2012, Physiological reviews.
[7] Lior Gepstein,et al. Modelling the long QT syndrome with induced pluripotent stem cells , 2011, Nature.
[8] Karl-Ludwig Laugwitz,et al. Patient-specific induced pluripotent stem-cell models for long-QT syndrome. , 2010, New England Journal of Medicine.
[9] Q. Gong,et al. Alternative Splicing and Polyadenylation Contribute to the Generation of hERG1 C-terminal Isoforms* , 2010, The Journal of Biological Chemistry.
[10] A. P. Larsen. Role of ERG1 isoforms in modulation of ERG1 channel trafficking and function , 2010, Pflügers Archiv - European Journal of Physiology.
[11] Lior Gepstein,et al. Cardiomyocyte Differentiation of Human Induced Pluripotent Stem Cells , 2009, Circulation.
[12] P. Schwartz,et al. A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome. , 2009, Heart rhythm.
[13] E. Redaelli,et al. Identification of a Posttranslational Mechanism for the Regulation of hERG1 K+ Channel Expression and hERG1 Current Density in Tumor Cells , 2008, Molecular and Cellular Biology.
[14] A. Moss,et al. A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome. , 2008, Journal of molecular and cellular cardiology.
[15] T. Ichisaka,et al. Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors , 2007, Cell.
[16] J. Carlquist,et al. An intronic mutation causes long QT syndrome. , 2004, Journal of the American College of Cardiology.
[17] A. Malliani,et al. The long Q-T syndrome. , 1975, American heart journal.