Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).
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A. Wilde | Hanlin Gao | D. Tester | M. Ackerman | L. Faivre | C. Bezzina | Shengnan Wu | A. Khongphatthanayothin | E. Lodder | B. Cannon | G. Laurent | G. Bertaux | S. Podliesna | Hai-Yun Yen | J. Delanne | S. Yano | M. Klerk | M. Uzunyan | S. Falcon-Eicher | L. Miller | Mischa Klerk | Elisabeth M. Lodder | M. Ackerman | S. Falcon‐Eicher | Merujan Y. Uzunyan
[1] P. Lambiase,et al. Pathophysiology, diagnosis and treatment of tachycardiomyopathy , 2017, Heart.
[2] C. Lien,et al. Frequency of mononuclear diploid cardiomyocytes underlies natural variation in heart regeneration , 2017, Nature Genetics.
[3] Salah S Al-Zaiti,et al. Paroxysmal Supraventricular Tachycardia: Pathophysiology, Diagnosis, and Management. , 2016, Critical care nursing clinics of North America.
[4] M. Helton. Diagnosis and Management of Common Types of Supraventricular Tachycardia. , 2015, American family physician.
[5] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[6] C. Bezzina,et al. TNNI3K in cardiovascular disease and prospects for therapy. , 2015, Journal of molecular and cellular cardiology.
[7] L. Aravind,et al. Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia. , 2015, International journal of cardiology.
[8] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[9] Michael T. Zimmermann,et al. TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. , 2014, Human molecular genetics.
[10] A. P. Graves,et al. Inhibition of the Cardiomyocyte-Specific Kinase TNNI3K Limits Oxidative Stress, Injury, and Adverse Remodeling in the Ischemic Heart , 2013, Science Translational Medicine.
[11] R. Hui,et al. TNNI3K, a Cardiac-Specific Kinase, Promotes Physiological Cardiac Hypertrophy in Transgenic Mice , 2013, PloS one.
[12] D. Marchuk,et al. Dissection of a Quantitative Trait Locus for PR Interval Duration Identifies Tnni3k as a Novel Modulator of Cardiac Conduction , 2012, PLoS genetics.
[13] Christopher A. Miller,et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. , 2012, Genome research.
[14] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[15] J. Shubrook,et al. Common types of supraventricular tachycardia: diagnosis and management. , 2010, American family physician.
[16] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[17] Jan Menke,et al. Thromboembolism in atrial fibrillation. , 2010, The American journal of cardiology.
[18] T. Hadnott,et al. Tnni3k Modifies Disease Progression in Murine Models of Cardiomyopathy , 2009, PLoS genetics.
[19] Ken Chen,et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples , 2009, Bioinform..
[20] J. Ding,et al. Identification of the dual specificity and the functional domains of the cardiac-specific protein kinase TNNI3K. , 2007, General physiology and biophysics.
[21] D. Marchuk,et al. QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival , 2005, Mammalian Genome.
[22] D. Wilber,et al. Influence of age and gender on the mechanism of supraventricular tachycardia. , 2004, Heart rhythm.
[23] Ying-jie Wei,et al. Cloning and characterization of a novel cardiac-specific kinase that interacts specifically with cardiac troponin I , 2003, Journal of Molecular Medicine.
[24] D. Marchuk,et al. Genetic Modifier Loci Affecting Survival and Cardiac Function in Murine Dilated Cardiomyopathy , 2002, Circulation.
[25] J. Strasburger,et al. Supraventricular tachycardia mechanisms and their age distribution in pediatric patients. , 1992, The American journal of cardiology.
[26] P. Brugada,et al. Mechanisms of supraventricular tachycardia. , 1988, The American journal of cardiology.
[27] D. Marchuk,et al. Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction. , 2013, Journal of molecular and cellular cardiology.
[28] K. Wood. Mechanisms and clinical manifestations of supraventricular tachycardias. , 1995, Progress in cardiovascular nursing.