Varaico: Literature-Extracted Genetic Variants

Gene:CSRP3
Variant:p.K69R
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CSRP3

NM_003476.5:p.K69R

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

The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.

Sepp R et al.

Diagnostics (basel, Switzerland), 2022

35626289 (PubMed )
Supplement: diagnostics-12-01132-s001.zip › diagnostics-1699952-supplementary.pdf

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

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.

Ehsan M et al.

Journal of Molecular and Cellular Cardiology, 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

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

Burns C et al.

Circulation. Cardiovascular Genetics, 2017

28790153 (PubMed )
Supplement: circgenetics_circcvg-2016-001666_supp1.pdf

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Nouhravesh N et al.

Molecular Genetics & Genomic Medicine, 2016

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

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

Sarcomeric protein mutations in dilated cardiomyopathy.

Chang AN et al.

Heart Failure Reviews, 2005

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

Mohapatra B et al.

Molecular Genetics and Metabolism, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."