Back to search

Article

Mutations in <i>CSRP3/MLP</i>, a Z-disc associated gene are functionally associated with dilated cardiomyopathy in Indian population

2021-11-05

Abstract excerpt

CSRP3 is a LIM domain containing protein, known to play an important role in cardiomyocyte development, differentiation and pathology. Mutations in CSRP3 gene are reported in both dilated and hypertrophic cardiomyopathy (DCM and HCM), however, the genotype-phenotype correlation still remains elusive. To investigate the pathogenic potential of CSRP3 variants in our DCM cohort, we have screened 100 DCM cases and 100...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
ba1de2eb-b715-5637-8dbb-999e97fac4ba
DOI
10.1101/2021.11.05.21265852
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Mutations in <i>CSRP3/MLP</i>, a Z-disc associated gene are functionally associated with dilated cardiomyopathy in Indian populationDOI 10.1101/2021.11.05.21265852
Identification and functional characterization of <i>LDB3</i> gene variants in DCM patients from Indian PopulationSemantic proximity
LIM Domain-Wide Comprehensive Virtual Mutagenesis Provides Structural Rationale for Cardiomyopathy Mutations in CSRP3Semantic proximity
<i>MYBPC3</i>(c.194C>T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of dilated cardiomyopathy revealed by hiPSC modelingSemantic proximity
LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.Semantic proximity
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.Semantic proximity
MYBPC3 (c.194CT) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of DCM revealed by hiPSC modelingSemantic proximity
Dilated cardiomyopathy-associated<i>BAG3</i>mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytesSemantic proximity
MYBPC3 (c.194 C > T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of DCM revealed by HiPSC modeling.Semantic proximity
LIM domain-wide comprehensive mutagenesis reveals the role of leucine in CSRP3 protein stabilitySemantic proximity
Analysis of the Z-disc genes PDLIM3 and MYPN in Patients with Hypertrophic CardiomyopathySemantic proximity
CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family.Semantic proximity
Novel polymorphisms in PDLIM3 and PDLIM5 gene encoding Z ‐line proteins increase risk of idiopathic dilated cardiomyopathySemantic proximity
Select a neighboring publication to make it the new centre.