Rbm20 and cardiomyopathy
WebAlternative splicing generates specialized protein isoforms that allow the heart to adapt during development and disease. The recent discovery that mutations in the splicing … Webthese proteins in human cardiomyopathy is still unknown. At present, only mutations in the gene RBM20 encoding a cardiac splice factor have been shown to be associated with …
Rbm20 and cardiomyopathy
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WebA number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1O (CMD1O) is caused by heterozygous mutation in the ABCC9 gene ( 601439) on … WebNational Center for Biotechnology Information
WebJan 1, 2016 · RBM20 alternatively splices a set of genes including titin, CaMKIID, and GIT2 at the post transcriptional level to yield diverse isoforms. These target proteins are … WebJun 7, 2024 · NM_001134363.3(RBM20):c.1292_1293del (p.Val431fs) AND Dilated cardiomyopathy 1DD Clinical significance: Uncertain significance (Last evaluated: Jun 7, 2024) Review status: 1 star out of maximum of 4 stars
WebApr 2, 2024 · Cardiomyopathy (kahr-dee-o-my-OP-uh-thee) is a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body. Cardiomyopathy … WebNov 1, 2024 · RBM20 has initially been identified as one of dilated cardiomyopathy (DCM)-linked genes. RBM20 is a regulator of heart-specific alternative splicing and Rbm20ΔRRM …
WebSep 2, 2024 · ICD implantation should be considered in dilated cardiomyopathy and hypokinetic nondilated cardiomyopathy patients with an LVEF 50% and ≥2 risk factors (syncope; LGE on CMR; inducible as monomorphic VT at EP study; pathogenic mutations in LMNA, PLN, FLNC, and RBM20 genes).
WebNov 3, 2024 · RBM20 has initially been identified as one of dilated cardiomyopathy (DCM)-linked genes. RBM20 is a regulator of heart-specific alternative splicing and Rbm20ΔRRM mice lacking the RRM domain are ... tsla holdingsWebAug 13, 2024 · The RBM20 gene encodes RNA binding motif protein 20, a trans -acting splicing factor [ 7 ]. RBM20 is highly expressed in striated muscle, especially the heart, … phi med flightWebFeb 13, 2024 · Dilated cardiomyopathy (DCM) is a primary myocardial disease characterized by dilatation and systolic dysfunction of the left or both ventricles in the absence of hemodynamic overload or coronary artery disease that may be the cause of this myocardial dysfunction [1, 2].The natural history of DCM has improved substantially the last 10 years … tsla historical volumesWebGaertner, A., Klauke, B., Felski, E., Kassner, A., Brodehl, A., Gerdes, D., … Milting, H. (2024). Cardiomyopathy associated mutations in the RS domain affect ... tsl albaniaWebDec 1, 2024 · RBM20 is a cardiac splicing factor that regulates titin-based stiffness and thus cardiac filling. Using in silico, cell-, and animal-based screening, Radke et al. identified … phi med abbreviationWebFamilial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the … tsla insider activityWebDec 1, 1994 · RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations … tsla historical prices