Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.
暂无分享,去创建一个
Heidi L Rehm | Birgit H Funke | H. Rehm | B. Funke | N. Lakdawala | M. Kelly | P. Teekakirikul | Polakit Teekakirikul | Neal K Lakdawala | Melissa A Kelly | M. Kelly
[1] Gian Antonio Danieli,et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. , 2005, Cardiovascular Research.
[2] F. Berger,et al. Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction , 2008, Circulation.
[3] J. Chambers,et al. Adult left ventricular noncompaction: reappraisal of current diagnostic imaging modalities. , 2014, JACC. Cardiovascular imaging.
[4] J. Finsterer. Cardiogenetics, Neurogenetics, and Pathogenetics of Left Ventricular Hypertrabeculation/Noncompaction , 2009, Pediatric Cardiology.
[5] P. Elliott,et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. , 2003, The Journal of clinical investigation.
[6] J. Gardin,et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. , 1995, Circulation.
[7] I. V. Van Gelder,et al. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. , 2009, Heart rhythm.
[8] P. Syrris,et al. Genetics of restrictive cardiomyopathy. , 2010, Heart failure clinics.
[9] H. Watkins,et al. The Effect of Mutations in α-Tropomyosin (E40K and E54K) That Cause Familial Dilated Cardiomyopathy on the Regulatory Mechanism of Cardiac Muscle Thin Filaments* , 2007, Journal of Biological Chemistry.
[10] P. J. Griffiths,et al. Dilated and Hypertrophic Cardiomyopathy Mutations in Troponin and &agr;-Tropomyosin Have Opposing Effects on the Calcium Affinity of Cardiac Thin Filaments , 2007, Circulation research.
[11] J. Seidman,et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. , 1995, The New England journal of medicine.
[12] M. Cheitlin. Metoprolol Reverses Left Ventricular Remodeling in Patients With Asymptomatic Systolic Dysfunction: The Reversal of Ventricular Remodeling with Toprol-Xl (Revert) Trial , 2008 .
[13] 杜昕,et al. Inherited cardiomyopathies , 2012 .
[14] C. Seidman,et al. Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. , 2001, American journal of human genetics.
[15] Sean Connors,et al. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. , 2008, American journal of human genetics.
[16] N. Protonotarios,et al. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. , 2004, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.
[17] R. Hui,et al. Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. , 2004, The American journal of medicine.
[18] H. Watkins,et al. Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype. , 2007, Journal of the American College of Cardiology.
[19] V. Fuster,et al. Idiopathic dilated cardiomyopathy. , 1994, The New England journal of medicine.
[20] N. Sebire,et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes , 2008, Heart.
[21] J. Schmitt,et al. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. , 2002, The Journal of clinical investigation.
[22] W. Paulus,et al. Peripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy , 2010, Circulation.
[23] R. Hershberger,et al. Dilated Cardiomyopathy Overview , 2015 .
[24] A. Burke,et al. Desmosomal protein gene mutations in patients with idiopathic DCM , 2011, Heart.
[25] J. Belmont,et al. Clinical Characterization of Left Ventricular Noncompaction in Children: A Relatively Common Form of Cardiomyopathy , 2003, Circulation.
[26] J. Towbin,et al. Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome , 2001, Circulation.
[27] L. Mestroni,et al. Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. , 2009, Journal of cardiac failure.
[28] G. Valle,et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. , 2003, Journal of the American College of Cardiology.
[29] Wojciech Zareba,et al. Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: Proposed Modification of the Task Force Criteria , 2010, Circulation.
[30] Kelly Schoch,et al. Clinical application of exome sequencing in undiagnosed genetic conditions , 2012, Journal of Medical Genetics.
[31] S. Day,et al. Psychological Issues in Genetic Testing for Inherited Cardiovascular Diseases , 2011, Circulation. Cardiovascular genetics.
[32] J. Seidman,et al. A novel custom resequencing array for dilated cardiomyopathy , 2010, Genetics in Medicine.
[33] Deborah A Nickerson,et al. Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era , 2012, Circulation. Cardiovascular genetics.
[34] A. Wilde,et al. Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. , 2010, Heart rhythm.
[35] F. Takahashi‐Yanaga,et al. Ca2+-desensitizing effect of a deletion mutation ΔK210 in cardiac troponin T that causes familial dilated cardiomyopathy , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[36] P. Rozenfeld,et al. Treatment of fabry disease: current and emerging strategies. , 2011, Current pharmaceutical biotechnology.
[37] J. Crosson,et al. Infantile Restrictive Cardiomyopathy Resulting From a Mutation in the Cardiac Troponin T Gene , 2006, Pediatrics.
[38] P. Elliott,et al. Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. , 2007, Journal of the American College of Cardiology.
[39] Barry J Maron,et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interd , 2006, Circulation.
[40] M. Simoons,et al. Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies. , 2007, European heart journal.
[41] J. Seidman,et al. Sarcomere Protein Gene Mutations in Hypertrophic Cardiomyopathy of the Elderly , 2002, Circulation.
[42] Peter Nürnberg,et al. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. , 2008, Human molecular genetics.
[43] Matthew Wheeler,et al. A New Era in Clinical Genetic Testing for Hypertrophic Cardiomyopathy , 2009, Journal of cardiovascular translational research.
[44] B. Maron,et al. Clinical course of hypertrophic cardiomyopathy with survival to advanced age. , 2003, Journal of the American College of Cardiology.
[45] Brian C. Weiford,et al. Noncompaction of the Ventricular Myocardium , 2004, Circulation.
[46] A. Bozio,et al. A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. , 2008, Congenital heart disease.
[47] L. Mestroni,et al. Truncations of titin causing dilated cardiomyopathy. , 2012, The New England journal of medicine.
[48] Nicole M. Johnson,et al. Genetic testing for dilated cardiomyopathy in clinical practice. , 2012, Journal of cardiac failure.
[49] M. Sheppard,et al. Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy , 2010, Circulation. Cardiovascular genetics.
[50] D. Fatkin,et al. Molecular mechanisms of inherited cardiomyopathies. , 2002, Physiological reviews.
[51] Brian R. Anderson,et al. Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes , 2011, Circulation.
[52] J. Seidman,et al. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. , 2011, Circulation research.
[53] F O Mueller,et al. Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. , 1996, JAMA.
[54] B Maisch,et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. , 1996, Circulation.
[55] I. Ionita-Laza,et al. Estimating the number of unseen variants in the human genome , 2009, Proceedings of the National Academy of Sciences.
[56] I. V. Van Gelder,et al. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. , 2007, American heart journal.
[57] M. Vorgerd,et al. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. , 2010, Human molecular genetics.
[58] Jonathan Seidman,et al. Genetic causes of human heart failure. , 2005, The Journal of clinical investigation.
[59] N. Norton,et al. Coding Sequence Rare Variants Identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy , 2010, Circulation. Cardiovascular genetics.
[60] D. Stephan,et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). , 2001, Human molecular genetics.
[61] Dudley J Pennell,et al. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. , 2008, Journal of the American College of Cardiology.
[62] J. Seidman,et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. , 2005, The New England journal of medicine.
[63] Michael J Ackerman,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). , 2011, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.
[64] T. Nishikawa,et al. Hypertrophic cardiomyopathy in Noonan syndrome , 1996, Acta paediatrica Japonica : Overseas edition.
[65] Carolyn Y. Ho. Hypertrophic cardiomyopathy. , 2010, Heart failure clinics.
[66] A. Gomes,et al. Different Functional Properties of Troponin T Mutants That Cause Dilated Cardiomyopathy* , 2003, Journal of Biological Chemistry.
[67] G. Boriani,et al. Dilated-hypokinetic evolution of hypertrophic cardiomyopathy: prevalence, incidence, risk factors, and prognostic implications in pediatric and adult patients. , 2005, Journal of the American College of Cardiology.
[68] Heidi L Rehm,et al. Shared genetic causes of cardiac hypertrophy in children and adults. , 2008, The New England journal of medicine.
[69] R. Hershberger,et al. Coding Sequence Mutations Identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 Patients with Familial or Idiopathic Dilated Cardiomyopathy , 2008, Clinical and translational science.
[70] Carolyn Y. Ho,et al. Is Genotype Clinically Useful in Predicting Prognosis in Hypertrophic Cardiomyopathy? Genetics and Clinical Destiny: Improving Care in Hypertrophic Cardiomyopathy Response by Landstrom on P 2440 Genetics of Hcm Controversies in Cardiovascular Medicine , 2022 .
[71] J. Seidman,et al. Sarcomere protein gene mutations: A frequent cause of elderly-onset hypertrophic cardiomyopathy. , 2000 .
[72] Y. Suh,et al. Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B , 2005, Journal of Korean medical science.
[73] B. Maron. Hypertrophic cardiomyopathy: a systematic review. , 2002, JAMA.
[74] A. Marian,et al. Molecular Genetics and Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy: A Disease of Cardiac Stem Cells , 2011, Pediatric Cardiology.
[75] Michael J Ackerman,et al. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. , 2006, Molecular genetics and metabolism.
[76] W. Roberts,et al. Quantitative Analysis of Cardiac Muscle Cell Disorganization in the Ventricular Septum of Patients with Hypertrophic Cardiomyopathy , 1979, Circulation.
[77] Carolyn Y. Ho,et al. Hypertrophic Cardiomyopathy Overview , 2014 .
[78] T. Callis,et al. Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all , 2010, Expert review of molecular diagnostics.
[79] G. Thiene,et al. Arrhythmogenic right ventricular cardiomyopathy: An update. , 2001, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.
[80] M. Davies,et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. , 1997, Journal of the American College of Cardiology.
[81] D. Corrado,et al. Arrhythmogenic right ventricular cardiomyopathy: an update , 2009, Heart.
[82] 艶琳. Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity , 2006 .
[83] M. Ritter,et al. Isolated noncompaction of the myocardium in adults. , 1997, Mayo Clinic proceedings.
[84] V. Regitz-Zagrosek,et al. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. , 2003, European heart journal.
[85] D. J. Veldhuisen,et al. Heart Failure Peripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy , 2010 .
[86] H. Calkins,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). , 2011, Heart rhythm.
[87] N. Bit-Avragim,et al. Cardiac hypertrophy in Friedreich's ataxia. , 2002, Cardiovascular research.
[88] S. Russell,et al. Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy , 2009, Circulation. Cardiovascular genetics.
[89] David Reich,et al. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia , 2009, Nature Genetics.
[90] H. Watkins,et al. Inherited cardiomyopathies. , 2011, The New England journal of medicine.
[91] F. Ichida. Left ventricular noncompaction. , 2009, Circulation journal : official journal of the Japanese Circulation Society.
[92] Rolf Jenni,et al. Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity? , 2011, European heart journal.
[93] Eloisa Arbustini,et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. , 2007, European heart journal.
[94] P. Elliott,et al. Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy , 2002, Circulation.
[95] D. Corrado,et al. Comparison of clinical features of arrhythmogenic right ventricular cardiomyopathy in men versus women. , 2008, The American journal of cardiology.
[96] L. Tavazzi,et al. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects , 2006, European journal of heart failure.
[97] A. Tajik,et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. , 2004, Journal of the American College of Cardiology.
[98] S. Coughlin,et al. Idiopathic dilated cardiomyopathy. , 1994, The New England journal of medicine.
[99] P. Elliott,et al. Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study , 2011, Heart.
[100] P. Syrris,et al. Arrhythmogenic Right Ventricular Cardiomyopathy , 2009 .
[101] R. Pauli,et al. Ventricular noncompaction and distal chromosome 5q deletion. , 1999, American journal of medical genetics.
[102] Sha Tang,et al. Left ventricular noncompaction is associated with mutations in the mitochondrial genome. , 2010, Mitochondrion.
[103] L. Køber,et al. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy , 2009, European Journal of Human Genetics.
[104] Roger R Markwald,et al. Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β. , 2010, The Journal of clinical investigation.
[105] L. Monserrat,et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. , 2004, The American journal of cardiology.
[106] O. Havndrup,et al. Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency , 2004, European Journal of Human Genetics.
[107] P. Rahko,et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. , 2008, American heart journal.
[108] B. Hainque,et al. Familial hypertrophic cardiomyopathy: from mutations to functional defects. , 1998, Circulation research.