Molecular genetics and pathogenesis of cardiomyopathy (Q38547817)

4 September 2017

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title

Molecular genetics and pathogenesis of cardiomyopathy (English)

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4 September 2017

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Akinori Kimura

1

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4 September 2017

16 July 2015

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Journal of Human Genetics

4 September 2017

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4 September 2017

61

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4 September 2017

1

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4 September 2017

41-50

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https://scigraph.springernature.com/pub.10.1038/jhg.2015.83

4 September 2017

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cites work

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

1 reference

12 December 2020

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy

1 reference

12 December 2020

1 reference

12 December 2020

Tnni3k modifies disease progression in murine models of cardiomyopathy

1 reference

12 December 2020

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

1 reference

12 December 2020

Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy.

1 reference

12 December 2020

A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy

1 reference

12 December 2020

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

1 reference

12 December 2020

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

1 reference

12 December 2020

Restrictive Cardiomyopathy

1 reference

12 December 2020

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

1 reference

12 December 2020

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

1 reference

12 December 2020

Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy

1 reference

12 December 2020

Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

1 reference

12 December 2020

A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.

1 reference

12 December 2020

Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations.

1 reference

12 December 2020

Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy

1 reference

12 December 2020

Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond

1 reference

12 December 2020

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

1 reference

12 December 2020

Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in mice

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12 December 2020

Length-dependent Ca(2+) activation in cardiac muscle: some remaining questions

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12 December 2020

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12 December 2020

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1

1 reference

12 December 2020

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

1 reference

12 December 2020

Dimerization of the cardiac ankyrin protein CARP: implications for MARP titin-based signaling

1 reference

12 December 2020

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

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12 December 2020

Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy.

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12 December 2020

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

1 reference

12 December 2020

SCH00013, a novel Ca(2+) sensitizer with positive inotropic and no chronotropic action in heart failure

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12 December 2020

Dilated cardiomyopathy-associated FHOD3 variant impairs the ability to induce activation of transcription factor serum response factor

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12 December 2020

Cardiac ankyrin repeat protein is a novel marker of cardiac hypertrophy: role of M-CAT element within the promoter

1 reference

12 December 2020

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

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12 December 2020

Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy

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12 December 2020

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

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12 December 2020

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

1 reference

12 December 2020

A common MLP (muscle LIM protein) variant is associated with cardiomyopathy

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12 December 2020

A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium Sensitivity

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12 December 2020

The relative phospholamban and SERCA2 ratio: a critical determinant of myocardial contractility

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12 December 2020

Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?

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12 December 2020

Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy

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12 December 2020

Titin isoform-dependent effect of calcium on passive myocardial tension

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12 December 2020

Desmin mutation responsible for idiopathic dilated cardiomyopathy

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12 December 2020

Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue.

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12 December 2020

5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.

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12 December 2020

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome

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12 December 2020

Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy

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12 December 2020

Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy

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12 December 2020

Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy

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12 December 2020

Sarcomeric protein mutations in dilated cardiomyopathy

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12 December 2020

Truncations of titin causing dilated cardiomyopathy.

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12 December 2020

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

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12 December 2020

DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death

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12 December 2020

Expression of R120G-alphaB-crystallin causes aberrant desmin and alphaB-crystallin aggregation and cardiomyopathy in mice

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12 December 2020

Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy

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12 December 2020

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

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12 December 2020

Structural analysis of obscurin gene in hypertrophic cardiomyopathy

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12 December 2020

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy

1 reference

12 December 2020

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

1 reference

12 December 2020

A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1038%2FJHG.2015.83

7 January 2021

inferred from DOI database lookup

Attenuation of cardiac remodeling after myocardial infarction by muscle LIM protein-calcineurin signaling at the sarcomeric Z-disc

1 reference

12 December 2020

The multifunctional roles of the four-and-a-half-LIM only protein FHL2.

1 reference

12 December 2020

Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy

1 reference

12 December 2020

Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy

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12 December 2020

Titin-based modulation of calcium sensitivity of active tension in mouse skinned cardiac myocytes

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12 December 2020

Identification of the Syrian hamster cardiomyopathy gene.

1 reference

12 December 2020

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

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12 December 2020

Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis

1 reference

12 December 2020

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 mutation

1 reference

12 December 2020

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations

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12 December 2020

The giant protein titin: a major player in myocardial mechanics, signaling, and disease

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12 December 2020

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

1 reference

12 December 2020

BMP10 is essential for maintaining cardiac growth during murine cardiogenesis

1 reference

12 December 2020

Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy.

1 reference

12 December 2020

Chronic phospholamban-sarcoplasmic reticulum calcium ATPase interaction is the critical calcium cycling defect in dilated cardiomyopathy

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12 December 2020

Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes

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12 December 2020

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

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12 December 2020

Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy

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12 December 2020

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy

1 reference

12 December 2020

The heart in human dystrophinopathies

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12 December 2020

The molecular genetic basis for hypertrophic cardiomyopathy

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12 December 2020

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

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12 December 2020

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans

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12 December 2020

Reversal of calcium cycling defects in advanced heart failure toward molecular therapy

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12 December 2020

The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma

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12 December 2020

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy

1 reference

12 December 2020

Frequency of familial dilated cardiomyopathy

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12 December 2020

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy

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12 December 2020

Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly

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12 December 2020

Regulation of cardiac hypertrophy by intracellular signalling pathways

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12 December 2020

Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy

1 reference

12 December 2020

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

1 reference

12 December 2020

SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia

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12 December 2020

A novel de novo mutation of β-cardiac myosin heavy chain gene found in a twelve-year-old boy with hypertrophic cardiomyopathy

1 reference

12 December 2020

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease

1 reference

12 December 2020

Heart specific expression of mouse BMP-10 a novel member of the TGF-beta superfamily

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12 December 2020

Alpha B-crystallin mutation in dilated cardiomyopathy

1 reference

12 December 2020

Chronic suppression of heart-failure progression by a pseudophosphorylated mutant of phospholamban via in vivo cardiac rAAV gene delivery

1 reference

12 December 2020

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

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12 December 2020

Modifier genes for hypertrophic cardiomyopathy

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12 December 2020

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

1 reference

12 December 2020

Prevalence of Desmin Mutations in Dilated Cardiomyopathy

1 reference

12 December 2020

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

12 December 2020

A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy

1 reference

12 December 2020

Population-based variation in cardiomyopathy genes

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12 December 2020

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy

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12 December 2020

Hypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-C

1 reference

12 December 2020

A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin

1 reference

12 December 2020

Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy

1 reference

12 December 2020

Genetics of inherited cardiomyopathy.

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12 December 2020

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy

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12 December 2020

Phenotypic diversity in hypertrophic cardiomyopathy

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12 December 2020

Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy

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12 December 2020

Calsarcins, a novel family of sarcomeric calcineurin-binding proteins

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12 December 2020

Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C

1 reference

12 December 2020

Serum cardiac troponin I is related to increased left ventricular wall thickness, left ventricular dysfunction, and male gender in hypertrophic cardiomyopathy.

1 reference

12 December 2020

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

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12 December 2020

Prevalence, Clinical Significance, and Genetic Basis of Hypertrophic Cardiomyopathy With Restrictive Phenotype

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12 December 2020

Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.

1 reference

12 December 2020

Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation.

1 reference

12 December 2020

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

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12 December 2020

Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction

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12 December 2020

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

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12 December 2020

Titin mutations as the molecular basis for dilated cardiomyopathy

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12 December 2020

Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.

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12 December 2020

Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy.

1 reference

12 December 2020

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

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12 December 2020

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

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12 December 2020

Lamin A/C and cardiac diseases

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12 December 2020

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

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12 December 2020

A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.

1 reference

12 December 2020

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

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12 December 2020

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

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12 December 2020

The genetic basis for cardiac remodeling

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12 December 2020

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

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12 December 2020

Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

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12 December 2020

Molecular etiology and pathogenesis of hereditary cardiomyopathy

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12 December 2020

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene

1 reference

12 December 2020

QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival

1 reference

12 December 2020

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

1 reference

12 December 2020

Familial dilated cardiomyopathy

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12 December 2020

Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation

1 reference

12 December 2020

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

1 reference

12 December 2020

The Genetic Basis for Cardiomyopathy

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12 December 2020

Identifiers

DOI

10.1038/JHG.2015.83

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4 September 2017

1 reference

PubMed ID

26178429