Associated Papers
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.
Micolonghi C et al.
International Journal of Molecular Sciences, 2024
Exploring Syndecan-4 and MLP and Their Interaction in Primary Cardiomyocytes and H9c2 Cells.
Støle TP et al.
Cells, 2024
Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.
Broadway-Stringer S et al.
Cells, 2023
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
Computational analysis of the flexibility in the disordered linker region connecting LIM domains in cysteine-glycine-rich protein.
Chauhan PK et al.
Frontiers in Genetics, 2023
LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.
Chauhan PK et al.
Scientific Reports, 2022
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.
Walsh R et al.
Nature Reviews. Cardiology, 2022
CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family.
Huang H et al.
The Journal of Gene Medicine, 2022
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Lipari M et al.
Polish Archives of Internal Medicine, 2020
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.
Janin A et al.
Gene, 2018
Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.
Ehsan M et al.
Journal of Molecular and Cellular Cardiology, 2018
When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.
Ehsan M et al.
Journal of Muscle Research and Cell Motility, 2017
Muscle LIM Protein: Master regulator of cardiac and skeletal muscle functions.
Vafiadaki E et al.
Gene, 2015
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.
Vafiadaki E et al.
The Febs Journal, 2014
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier C et al.
Human Molecular Genetics, 2008
Sarcomeric proteins and inherited cardiomyopathies.
Morimoto S
Cardiovascular Research, 2008
Is there a common genetic basis for all familial cardiomyopathies?
Perrot A et al.
European Journal of Heart Failure, 2007
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
Bos JM et al.
Molecular Genetics and Metabolism, 2006
Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy.
Gehmlich K et al.
Cell and Tissue Research, 2004