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Jan 15, 2026 · Complete information for RBM20gene (Protein Coding), RNA Binding Motif Protein 20, including: function, proteins, disorders, pathways, orthologs, and expression.
Dec 19, 2024 · 本文将详细介绍RBM20基因的功能、作用机制、信号通路及其与疾病的关系，帮助读者全面了解这一重要的RNA结合蛋白基因。 RBM20基因概述 RBM20 ，全称为RNA结合基序蛋白20，位于人类染色体10q25.2上。
Feb 9, 2025 · RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy. Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.
Jan 30, 2024 · Abstract RBM20 (RNA-binding motif protein 20) is a vertebrate- and muscle-specific RNA-binding protein that belongs to the serine-arginine-rich family of splicing factors. The RBM20gene was first identi...
Oct 13, 2023 · This review will conclude the pathogenesis, pathology, molecular genetics, clinical features, and treatment of RBM20-associated dilated cardiomyopathy. The research on DCM subtype emphasizes the importa...
This article delves into the characteristics of the RBM20gene, highlighting its role in regulating alternative splicing of the TTN gene and calcium/calmodulin-dependent protein kinase type II gene.
功能概要 该基因编码一种结合 RNA 并调节剪接的蛋白质。 该基因的突变与家族性扩张型心肌病有关。 [RefSeq 提供，2014 年 4 月] This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopa...
Nov 3, 2021 · Mutations in the splicing factor RBM20 cause aggressive Dilated Cardiomyopathy. Here the authors generated RBM20 R636S mutants and knockout in human iPSC-derived cardiomyocytes.
By positional cloning using a previously characterized rat strain with altered titin mRNA splicing, we identified a loss-of-function mutation in the gene encoding RNA binding motif protein 20 (Rbm20) as the underlying...
Nov 6, 2025 · 在心血管疾病研究领域，RBM20基因作为一种RNA剪接调节蛋白的编码基因，自2009年被发现与心肌病相关以来，其临床意义日益受到关注。 然而，根据2023年最新心肌病分类标准，该基因在不同表型中的具体表现特征仍不明确。
