Rbm20 and cardiomyopathy
WebMalaCards based summary: Cardiomyopathy, Dilated, 1dd, also known as dilated cardiomyopathy 1dd, is related to mitochondrial dna depletion syndrome 12b and constrictive pericarditis. An important gene associated with Cardiomyopathy, Dilated, 1dd is RBM20 (RNA Binding Motif Protein 20), and among its related pathways/superpathways … WebMar 18, 2024 · Dilated cardiomyopathy 1DD (CMD1DD) Identifiers: MONDO : MONDO:0013168; MedGen: C2750995; Orphanet: ... This variant has not been reported in the literature in individuals affected with RBM20-related conditions. ClinVar contains an entry for this variant (Variation ID: 854294). Advanced modeling of protein sequence and ...
Rbm20 and cardiomyopathy
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WebE78.4 - Other Hyperlipidemia E78.5 - Hyperlipidemia, unspecified E87.1 - Hypo - osmolality and / or hypernatremia G89.29 - Other Chronic Pain 110 - Essential (Primary) Hypertension WebDec 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 …
WebJun 16, 2024 · RBM20 deficiency in rats leads to many phenotypic features that are observed in individuals with cardiomyopathy related to mutant RBM20, suggesting … WebDec 1, 1994 · RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations …
WebApr 12, 2024 · RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and CAMK2D (calcium/calmodulin-dependent kinase II delta). Aberrant TTN … http://www.protein-cell.org/article/exportPdf?id=cd273b9b-5c8a-4af5-bcb9-650583f697f5&language=en
WebGaertner, A., Klauke, B., Felski, E., Kassner, A., Brodehl, A., Gerdes, D., … Milting, H. (2024). Cardiomyopathy associated mutations in the RS domain affect ...
WebDilated cardiomyopathy is the end phenotype of diverse mutations in heterogeneous pathways ranging from components of the membrane-scaffolding apparatus (e.g., sarcoglycan and dystrophinopathies ... highway gospel community templeWebClinical Utility. Molecular confirmation of a clinical diagnosis in symptomatic patients. Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia. Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia. Recurrence risk calculation. highway go go stand userWebMar 29, 2024 · RBM20 missense mutation is a novel gene underlying one form of dilated cardiomyopathy. RBM20 as a dilated cardiomyopathy gene and reveal a mutation hotspot … highway gospel church scarboroughWebJan 13, 2024 · RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to cause the ... small subwoofers for carsWebThis review article highlights some of the recent advances in the field, ranging from aspects of granule formation to 3D genome architectures underlying RBM20-related … small succulents colorsWebClinical Molecular Genetics test for Dilated cardiomyopathy 1DD and using Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Fulgent Genetics. There are links to the lab to order the test and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, … highway gospel churchWebRBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to cause the development of dilated cardiomyopathy by erroneous splicing of the gene TTN (titin). Titin is a giant protein found in a structure of the sarcomere that functions as a … small succulents types