Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy (Q34781987)

4 August 2017

title

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. (English)

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4 August 2017

20

Peter Nürnberg

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Elisabeth Ehler

3

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Simone Spuler

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object named as

Simone Spuler

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Katrin Wenzel

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Christian Geier

1

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Katja Gehmlich

2

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Sabine Hassfeld

4

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Andreas Perrot

5

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Katrin Hayess

6

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Nuno Cardim

7

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Bettina Erdmann

9

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Florian Krackhardt

10

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Maximilian G Posch

11

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Karl J Osterziel

12

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Angelika Bublak

13

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Herbert Nägele

14

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Thomas Scheffold

15

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Rainer Dietz

16

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Kenneth R Chien

17

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Dieter O Fürst

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Cemil Ozcelik

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publication date

27 May 2008

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4 August 2017

published in

Human Molecular Genetics

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4 August 2017

volume

17

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issue

18

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page(s)

2753-2765

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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

4 August 2017

cites work

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Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum. Comparison of fetuses and infants with and without congenital heart disease and patients with hypertrophic cardiomyopathy

21 January 2018

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

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Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

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Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

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MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

Mapping of a human LIM protein (CLP) to human chromosome 11p15.1 by fluorescence in situ hybridization

21 January 2018

1 reference

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

21 January 2018

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

21 January 2018

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Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

21 January 2018

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

21 January 2018

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Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

21 January 2018

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W4R variant in CSRP3 encoding muscle LIM protein in a patient with hypertrophic cardiomyopathy

21 January 2018

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

21 January 2018

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Muscle LIM Protein Promotes Myogenesis by Enhancing the Activity of MyoD

21 January 2018

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Comparison of Three Members of the Cysteine-rich Protein Family Reveals Functional Conservation and Divergent Patterns of Gene Expression

21 January 2018

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Alterations at the intercalated disk associated with the absence of muscle LIM protein

21 January 2018

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Glycogen storage diseases presenting as hypertrophic cardiomyopathy

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Decreased expression of the cardiac LIM domain protein MLP in chronic human heart failure

21 January 2018

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Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants

21 January 2018

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Subclinical skeletal muscle abnormalities in patients with hypertrophic cardiomyopathy and their relation to clinical characteristics

21 January 2018

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Muscle LIM protein, a novel essential regulator of myogenesis, promotes myogenic differentiation

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Muscle LIM protein plays both structural and functional roles in skeletal muscle

21 January 2018

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

21 January 2018

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Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy

21 January 2018

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Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy

21 January 2018

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21 January 2018

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The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

21 January 2018

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Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

21 January 2018

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Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies

21 January 2018

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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

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Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families

21 January 2018

1 reference

Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2

21 January 2018

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Cytoskeletal structure and recovery in single human cardiac myocytes

21 January 2018

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Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP

21 January 2018

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Paxillin and ponsin interact in nascent costameres of muscle cells

21 January 2018

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Epidemiology of Hypertrophic Cardiomyopathy–Related Death

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDN160

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4 August 2017

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