Molecular genetics and pathogenesis of cardiomyopathy.

PubWeight™: 1.02‹?› | Rank: Top 15%

🔗 View Article (PMID 26178429)

Published in J Hum Genet on July 16, 2015

Authors

Akinori Kimura1

Author Affiliations

1: Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Articles citing this

Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders. J Am Coll Cardiol (2016) 0.79

Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body. BMC Cardiovasc Disord (2016) 0.76

Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes. Cell Mol Life Sci (2017) 0.75

A Restrictive Cardiomyopathy Mutation in an Invariant Proline at the Myosin Head/Rod Junction Enhances Head Flexibility and Function, Yielding Muscle Defects in Drosophila. J Mol Biol (2016) 0.75

The Role of Leucine-Rich Repeat Containing Protein 10 (LRRC10) in Dilated Cardiomyopathy. Front Physiol (2016) 0.75

Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations. Medicine (Baltimore) (2017) 0.75

In Utero Caffeine Exposure Induces Transgenerational Effects on the Adult Heart. Sci Rep (2016) 0.75

A Mitochondrial DNA A8701G Mutation Partly Associated with Maternally Inherited Hypertension and Dilated Cardiomyopathy in a Chinese Pedigree. Chin Med J (Engl) (2016) 0.75

Cardiac cytoarchitecture - why the "hardware" is important for heart function! Biochim Biophys Acta (2015) 0.75

CX3CR1 knockout aggravates Coxsackievirus B3-induced myocarditis. PLoS One (2017) 0.75

Immunological and pathological consequences of coxsackievirus RNA persistence in the heart. Virology (2017) 0.75

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: A case with clinical, pathologic, and genetic evaluation. Neuropathol Appl Neurobiol (2017) 0.75

Articles cited by this

(truncated to the top 100)

Regulation of cardiac hypertrophy by intracellular signalling pathways. Nat Rev Mol Cell Biol (2006) 10.71

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 Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation (2006) 9.44

Truncations of titin causing dilated cardiomyopathy. N Engl J Med (2012) 6.07

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell (1990) 5.77

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med (1999) 5.61

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell (2001) 5.35

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet (1999) 5.04

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell (2002) 4.72

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet (2000) 4.54

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell (1994) 4.47

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med (2000) 4.30

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med (1992) 4.20

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res (2005) 3.99

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet (2004) 3.88

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science (2003) 3.71

Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in mice. Cell (2007) 3.54

Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol (2003) 3.46

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet (2000) 3.39

The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet (2005) 3.36

The giant protein titin: a major player in myocardial mechanics, signaling, and disease. Circ Res (2004) 3.30

Restrictive cardiomyopathy. N Engl J Med (1997) 3.29

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science (1998) 3.22

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol (2003) 3.20

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet (2001) 3.12

SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation (2004) 3.01

The heart in human dystrophinopathies. Cardiology (2003) 2.97

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet (2004) 2.85

The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol (2001) 2.83

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation (2006) 2.81

Chronic phospholamban-sarcoplasmic reticulum calcium ATPase interaction is the critical calcium cycling defect in dilated cardiomyopathy. Cell (1999) 2.68

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet (2002) 2.67

The failing heart. Nature (2002) 2.66

Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation (1999) 2.59

Expression of R120G-alphaB-crystallin causes aberrant desmin and alphaB-crystallin aggregation and cardiomyopathy in mice. Circ Res (2001) 2.51

BMP10 is essential for maintaining cardiac growth during murine cardiogenesis. Development (2004) 2.50

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med (2015) 2.43

Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab (2003) 2.42

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet (2011) 2.38

Chronic suppression of heart-failure progression by a pseudophosphorylated mutant of phospholamban via in vivo cardiac rAAV gene delivery. Nat Med (2002) 2.37

Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ Res (2000) 2.35

Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function. Circulation (2007) 2.33

Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. Proc Natl Acad Sci U S A (2000) 2.33

Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. Hum Mol Genet (2004) 2.31

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation (1993) 2.30

The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ Res (2004) 2.29

Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun (2006) 2.27

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation (2001) 2.24

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet (1997) 2.20

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J (2007) 2.14

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation (2003) 2.12

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc Natl Acad Sci U S A (2006) 2.05

Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest (2003) 2.04

Population-based variation in cardiomyopathy genes. Circ Cardiovasc Genet (2012) 2.00

The multifunctional roles of the four-and-a-half-LIM only protein FHL2. Cell Mol Life Sci (2006) 1.99

Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly. J Cell Biol (2001) 1.97

Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation (2002) 1.95

Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet (2002) 1.93

A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell (1990) 1.92

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest (2000) 1.91

Titin-based modulation of calcium sensitivity of active tension in mouse skinned cardiac myocytes. Circ Res (2001) 1.88

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J Clin Invest (2007) 1.87

Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. Hum Mutat (2011) 1.85

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol (2003) 1.84

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A (2004) 1.82

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol (2004) 1.79

Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction. J Biol Chem (1994) 1.77

Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C. J Biol Chem (1999) 1.75

Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol (1999) 1.71

Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem Biophys Res Commun (2002) 1.70

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol (2007) 1.70

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest (1999) 1.64

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. Circ J (2011) 1.64

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet (2006) 1.64

Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet (1997) 1.63

Dimerization of the cardiac ankyrin protein CARP: implications for MARP titin-based signaling. J Muscle Res Cell Motil (2005) 1.62

A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity. Circ Res (1998) 1.59

Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. Circulation (2007) 1.57

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet (1997) 1.55

Sarcomeric protein mutations in dilated cardiomyopathy. Heart Fail Rev (2005) 1.54

Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proc Natl Acad Sci U S A (2002) 1.49

Length-dependent Ca(2+) activation in cardiac muscle: some remaining questions. J Muscle Res Cell Motil (2005) 1.49

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun (1999) 1.48

Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol (2002) 1.47

Dilated cardiomyopathy-associated FHOD3 variant impairs the ability to induce activation of transcription factor serum response factor. Circ J (2013) 1.47

Tnni3k modifies disease progression in murine models of cardiomyopathy. PLoS Genet (2009) 1.44

Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. J Am Coll Cardiol (2007) 1.43

Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun (2004) 1.39

Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet (2004) 1.38

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. J Am Coll Cardiol (2009) 1.38

Attenuation of cardiac remodeling after myocardial infarction by muscle LIM protein-calcineurin signaling at the sarcomeric Z-disc. Proc Natl Acad Sci U S A (2005) 1.36

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. J Biol Chem (2000) 1.36

Heart specific expression of mouse BMP-10 a novel member of the TGF-beta superfamily. Mech Dev (1999) 1.35

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol (2006) 1.34

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet (2013) 1.30

Prevalence of desmin mutations in dilated cardiomyopathy. Circulation (2007) 1.28

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol (2004) 1.26

A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem (2003) 1.23

Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res (2007) 1.21

Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. J Biol Chem (1999) 1.21

Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy. Circulation (2002) 1.21