Associated Papers
Exploring Syndecan-4 and MLP and Their Interaction in Primary Cardiomyocytes and H9c2 Cells.
Støle TP et al.
Cells, 2024
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.
Chauhan PK et al.
Scientific Reports, 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
First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.
Janin A et al.
Gene, 2018
Muscle Lim Protein and myosin binding protein C form a complex regulating muscle differentiation.
Arvanitis DA et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B
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
Conservation in the CYP51 family. Role of the B' helix/BC loop and helices F and G in enzymatic function.
Lepesheva GI et al.
Biochemistry, 2003
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