Generation of pluripotent stem cell lines and CRISPR/Cas9 modified isogenic controls from a patient with dilated cardiomyopathy harboring a RBM20 p.R634W mutation.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101901
Abstract: RNA binding motif protein 20 (RBM20) is an alternative splicing factor and highly expressed in cardiac tissue. Mutations in the RS domain of RBM20 have been shown to cause different cardiomyopathies. Here, we generated induced… read more here.
Keywords: crispr cas9; stem cell; pluripotent stem; dilated cardiomyopathy ... See more keywords
RBM20-mutations induce disturbed splicing of calcium relevant genes in patient-specific stem cell models of cardiomyopathies
Sign Up to like & getrecommendations! Published in 2020 at "European Heart Journal"
DOI: 10.1093/ehjci/ehaa946.3707
Abstract: Mutations in the splice factor RBM20 have been identified to account for ∼3% of cardiomyopathies. In particular, the highly conserved RS-domain is a hotspot for disease-associated mutations. Distinct mutations at position 634 in the RS-domain… read more here.
Keywords: dcm lvnc; cms; ca2; rbm20 ... See more keywords
RBM20, a Therapeutic Target to Alleviate Myocardial Stiffness via Titin Isoforms Switching in HFpEF
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2022.928244
Abstract: Increased myocardial stiffness is critically involved in heart diseases with impaired cardiac compliance, especially heart failure with preserved ejection fraction (HFpEF). Myocardial stiffness mainly derives from cardiomyocyte- and extracellular matrix (ECM)-derived passive stiffness. Titin, a… read more here.
Keywords: rbm20; stiffness; myocardial stiffness; titin isoforms ... See more keywords
Alternative Splicing Regulator RBM20 and Cardiomyopathy
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2018.00105
Abstract: RBM20 is a vertebrate-specific RNA-binding protein with two zinc finger (ZnF) domains, one RNA-recognition motif (RRM)-type RNA-binding domain and an arginine/serine (RS)-rich region. RBM20 has initially been identified as one of dilated cardiomyopathy (DCM)-linked genes.… read more here.
Keywords: ttn gene; splicing regulator; rrm; rbm20 ... See more keywords
SR Protein Kinases Regulate the Splicing of Cardiomyopathy-Relevant Genes via Phosphorylation of the RSRSP Stretch in RBM20
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13091526
Abstract: (1) Background: RNA binding motif 20 (RBM20) regulates mRNA splicing specifically in muscle tissues. Missense mutations in the arginine/serine (RS) domain of RBM20 lead to abnormal gene splicing and have been linked to severe dilated… read more here.
Keywords: stretch; protein kinases; rbm20; rsrsp stretch ... See more keywords