Genetics of dilated cardiomyopathy (Q36799386)

16 August 2017

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title

Genetics of dilated cardiomyopathy. (English)

1 reference

16 August 2017

Satu Kärkkäinen

1

1 reference

PubMed ID

17453673

16 August 2017

Keijo Peuhkurinen

series ordinal

2

1 reference

PubMed ID

17453673

16 August 2017

language of work or name

English

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publication date

1 January 2007

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16 August 2017

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16 August 2017

39

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16 August 2017

2

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16 August 2017

91-107

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Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

16 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Frequency of familial nature of dilated cardiomyopathy and usefulness of cardiac transplantation in this subset

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Prevalence of overt dilated cardiomyopathy in two regions of England

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Cardiomyopathy in western Denmark

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Idiopathic Dilated Cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Incidence, causes, and outcomes of dilated cardiomyopathy in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Epidemiology of idiopathic cardiomyopathies in children and adolescents. A nationwide study in Finland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Frequency and phenotypes of familial dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Familial dilated cardiomyopathy in the United Kingdom

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

21 January 2018

Familial cardiomegaly

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Mutations in the LMNA gene encoding lamin A/C

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Desmin mutation responsible for idiopathic dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Lamin A/C truncation in dilated cardiomyopathy with conduction disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Genetic aspects of heart failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Molecular mechanisms of inherited cardiomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

The role of the cytoskeleton in heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Titin mutations as the molecular basis for dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Titins: giant proteins in charge of muscle ultrastructure and elasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

A structural scaffolding of intermediate filaments in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Many roads lead to a broken heart: the genetics of dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Enteroviral protease 2A directly cleaves dystrophin and is inhibited by a dystrophin-based substrate analogue

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

The internal and external protein scaffold of the T-tubular system in cardiomyocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Immunolocalization of meta-vinculin in human smooth and cardiac muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Modulation of cardiac myocyte phenotype in vitro by the composition and orientation of the extracellular matrix.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Identification of the Syrian hamster cardiomyopathy gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Muscle LIM protein promotes myogenesis by enhancing the activity of MyoD

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Nuclear lamins: building blocks of nuclear architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Cardiomyopathies: from genetics to the prospect of treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Nuclear lamins: their structure, assembly, and interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

21 January 2018

Emery-Dreifuss syndrome

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Primary prevention of sudden death in patients with lamin A/C gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Detergent-salt resistance of LAP2alpha in interphase nuclei and phosphorylation-dependent association with chromosomes early in nuclear assembly implies functions in nuclear structure dynamics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Distinct functions of the unique C terminus of LAP2alpha in cell proliferation and nuclear assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

A single Na(+) channel mutation causing both long-QT and Brugada syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

The other human genome: mitochondrial DNA and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Mitochondrial DNA and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

The clinical course of idiopathic dilated cardiomyopathy. A population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Mode of death in idiopathic dilated cardiomyopathy: a multivariate analysis of prognostic determinants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Prognostic significance of mitral regurgitation and tricuspid regurgitation in patients with left ventricular systolic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Treatment of congestive heart failure: interfering the aldosterone-cardiac extracellular matrix relationship.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Endotoxin and immune activation in chronic heart failure: a prospective cohort study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Molecular normalization of dystrophin in the failing left and right ventricle of patients treated with either pulsatile or continuous flow-type ventricular assist devices.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

The Ile164 beta2-adrenergic receptor polymorphism adversely affects the outcome of congestive heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Familial dilated cardiomyopathy locus maps to chromosome 2q31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Mapping a cardiomyopathy locus to chromosome 3p22-p25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890601145821

10.1080/07853890601145821

21 January 2018

Identifiers

DOI

1 reference

16 August 2017

1 reference

PubMed ID

17453673