| [Research progress on the expression of the RBM20 gene in dilated cardiomyopathy]. | [Research progress on the expression of the RBM20 gene in dilated cardiomyopathy].
Lin X., Free PMC Article | 11/3/2023 |
| Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants. | Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants.
Cannie DE, Protonotarios A, Bakalakos A, Syrris P, Lorenzini M, De Stavola B, Bjerregaard L, Dybro AM, Hey TM, Hansen FG, Navarro Peñalver M, Crespo-Leiro MG, Larrañaga-Moreira JM, de Frutos F, Johnson R, Slater TA, Monserrat L, Sengupta A, Mestroni L, Taylor MRG, Sinagra G, Bilinska Z, Solla-Ruiz I, Arana Achaga X, Barriales-Villa R, Garcia-Pavia P, Gimeno JR, Dal Ferro M, Merlo M, Wahbi K, Fatkin D, Mogensen J, Rasmussen TB, Elliott PM., Free PMC Article | 10/30/2023 |
| I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy. | I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.
Yamamoto T, Sano R, Miura A, Imasaka M, Naito Y, Nishiguchi M, Ihara K, Otani N, Kominato Y, Ohmuraya M, Kuroyanagi H, Nishio H., Free PMC Article | 12/3/2022 |
| SR Protein Kinases Regulate the Splicing of Cardiomyopathy-Relevant Genes via Phosphorylation of the RSRSP Stretch in RBM20. | SR Protein Kinases Regulate the Splicing of Cardiomyopathy-Relevant Genes via Phosphorylation of the RSRSP Stretch in RBM20.
Sun M, Jin Y, Zhang Y, Gregorich ZR, Ren J, Ge Y, Guo W., Free PMC Article | 10/8/2022 |
| RBM20(S639G) mutation is a high genetic risk factor for premature death through RNA-protein condensates. | RBM20(S639G) mutation is a high genetic risk factor for premature death through RNA-protein condensates.
Wang C, Zhang Y, Methawasin M, Braz CU, Gao-Hu J, Yang B, Strom J, Gohlke J, Hacker T, Khatib H, Granzier H, Guo W., Free PMC Article | 05/14/2022 |
| Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20. | Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A, Klauke B, Felski E, Kassner A, Brodehl A, Gerdes D, Stanasiuk C, Ebbinghaus H, Schulz U, Dubowy KO, Tiesmeier J, Laser KT, Bante H, Bergau L, Sommer P, Fox H, Morshuis M, Gummert J, Milting H. | 01/15/2022 |
| RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy. | RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy.
Dai J, Li Z, Huang W, Chen P, Sun Y, Wang H, Wu D, Chen Y, Li C, Xiao L, Liu H, Wei H, Li R, Duan Q, Peng L, Song X, Yu T, Wang Y, Wang DW. | 01/1/2022 |
| Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies. | Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.
Fenix AM, Miyaoka Y, Bertero A, Blue SM, Spindler MJ, Tan KKB, Perez-Bermejo JA, Chan AH, Mayerl SJ, Nguyen TD, Russell CR, Lizarraga PP, Truong A, So PL, Kulkarni A, Chetal K, Sathe S, Sniadecki NJ, Yeo GW, Murry CE, Conklin BR, Salomonis N., Free PMC Article | 12/11/2021 |
| The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy. | The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.
Gaertner A, Bloebaum J, Brodehl A, Klauke B, Sielemann K, Kassner A, Fox H, Morshuis M, Tiesmeier J, Schulz U, Knoell R, Gummert J, Milting H., Free PMC Article | 12/11/2021 |
| Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations. | Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations.
Robles-Mezcua A, Rodríguez-Miranda L, Morcillo-Hidalgo L, Jiménez-Navarro M, García-Pinilla JM. | 08/21/2021 |
| Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20. | Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.
Robyns T, Willems R, Van Cleemput J, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Breckpot J, Devriendt K, Corveleyn A., Free PMC Article | 08/14/2021 |
| RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart. | RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart.
Vakhrushev Y, Kozyreva A, Semenov A, Sokolnikova P, Lubimtseva T, Lebedev D, Smolina N, Zhuk S, Mitrofanova L, Vasichkina E, Kostareva A., Free PMC Article | 07/24/2021 |
| The Emerging Role of the RBM20 and PTBP1 Ribonucleoproteins in Heart Development and Cardiovascular Diseases. | The Emerging Role of the RBM20 and PTBP1 Ribonucleoproteins in Heart Development and Cardiovascular Diseases.
Fochi S, Lorenzi P, Galasso M, Stefani C, Trabetti E, Zipeto D, Romanelli MG., Free PMC Article | 03/13/2021 |
| Dysregulated ribonucleoprotein granules promote cardiomyopathy in RBM20 gene-edited pigs. | Dysregulated ribonucleoprotein granules promote cardiomyopathy in RBM20 gene-edited pigs.
Schneider JW, Oommen S, Qureshi MY, Goetsch SC, Pease DR, Sundsbak RS, Guo W, Sun M, Sun H, Kuroyanagi H, Webster DA, Coutts AW, Holst KA, Edwards BS, Newville N, Hathcock MA, Melkamu T, Briganti F, Wei W, Romanelli MG, Fahrenkrug SC, Frantz DE, Olson TM, Steinmetz LM, Carlson DF, Nelson TJ, Wanek Program Preclinical Pipeline., Free PMC Article | 01/9/2021 |
| Our data establish RBM20 cardiomyopathy as a highly penetrant and arrhythmogenic cardiomyopathy | Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.
Parikh VN, Caleshu C, Reuter C, Lazzeroni LC, Ingles J, Garcia J, McCaleb K, Adesiyun T, Sedaghat-Hamedani F, Kumar S, Graw S, Gigli M, Stolfo D, Dal Ferro M, Ing AY, Nussbaum R, Funke B, Wheeler MT, Hershberger RE, Cook S, Steinmetz LM, Lakdawala NK, Taylor MRG, Mestroni L, Merlo M, Sinagra G, Semsarian C, Meder B, Judge DP, Ashley E., Free PMC Article | 02/1/2020 |
| Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization. | Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization.
Murayama R, Kimura-Asami M, Togo-Ohno M, Yamasaki-Kato Y, Naruse TK, Yamamoto T, Hayashi T, Ai T, Spoonamore KG, Kovacs RJ, Vatta M, Iizuka M, Saito M, Wani S, Hiraoka Y, Kimura A, Kuroyanagi H., Free PMC Article | 10/12/2019 |
| RBM20 mutations/loss disturbs Ca(2+) handling and leads to more proarrhythmic Ca(2+) releases from the sarcoplasmic reticulum. | RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.
van den Hoogenhof MMG, Beqqali A, Amin AS, van der Made I, Aufiero S, Khan MAF, Schumacher CA, Jansweijer JA, van Spaendonck-Zwarts KY, Remme CA, Backs J, Verkerk AO, Baartscheer A, Pinto YM, Creemers EE. | 10/5/2019 |
| The study showed that genotypic and phenotypic characterization of a family displaying dilated cardiomyopathy (DCM). 6 members of a family carrying the RBM20 mutation NM_001134363.2:c.1900C>T. The findings are the first report of co-segregation of the mutation in 6 family members, supporting its pathogenic role. | Phenotypic Heterogeneity within Members of a Family Carrying the Same RBM20 Mutation R634W.
Pantou MP, Gourzi P, Gkouziouta A, Tsiapras D, Zygouri C, Constantoulakis P, Adamopoulos S, Degiannis D. | 09/14/2019 |
| The carboxy-terminal region of RBM20 is necessary for exon repression.RBM20 binds the cluster containing most RBM20 binding motifs through its RNA recognition motif domain and represses the upstream and downstream introns.Repressor activity of RBM20 is counteracted by PTB4. | Molecular basis of titin exon exclusion by RBM20 and the novel titin splice regulator PTB4.
Dauksaite V, Gotthardt M., Free PMC Article | 08/24/2019 |
| These results indicate that RBM20 and PTBP1 play a role in the actin filament functional organization mediated by FHOD3 isoforms and suggest their possible involvement in heart diseases. | RNA-binding proteins RBM20 and PTBP1 regulate the alternative splicing of FHOD3.
Lorenzi P, Sangalli A, Fochi S, Dal Molin A, Malerba G, Zipeto D, Romanelli MG. | 07/20/2019 |
| The first light on molecular mechanisms of RBM20-dependent pathological cardiac remodeling leading to DCM. | Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Streckfuss-Bömeke K, Tiburcy M, Fomin A, Luo X, Li W, Fischer C, Özcelik C, Perrot A, Sossalla S, Haas J, Vidal RO, Rebs S, Khadjeh S, Meder B, Bonn S, Linke WA, Zimmermann WH, Hasenfuss G, Guan K. | 06/2/2018 |
| Mutations in RBM20 cause dilated cardiomyopathy along with dysregulated isoform switch. | Emerging Role for RBM20 and its Splicing Substrates in Cardiac Function and Heart Failure.
Ma J, Lu L, Guo W, Ren J, Yang J. | 11/26/2017 |
| Heterozygous loss of RBM20 suffices to profoundly impair myocyte biomechanics by its disturbance of TTN splicing causing dilated cardiomyopathy. | A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
Beqqali A, Bollen IA, Rasmussen TB, van den Hoogenhof MM, van Deutekom HW, Schafer S, Haas J, Meder B, Sørensen KE, van Oort RJ, Mogensen J, Hubner N, Creemers EE, van der Velden J, Pinto YM. | 09/30/2017 |
| RBM20 is crucial for the formation of a subset of circular RNAs that originate from the I-band of the titin gene. | RBM20 Regulates Circular RNA Production From the Titin Gene.
Khan MA, Reckman YJ, Aufiero S, van den Hoogenhof MM, van der Made I, Beqqali A, Koolbergen DR, Rasmussen TB, van der Velden J, Creemers EE, Pinto YM. | 05/6/2017 |
| RBM20 familial dilated cardiomyopathy is a developmental disorder initiated by molecular defects that pattern maladaptive cellular mechanisms of pathological cardiac remodeling. | Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells.
Wyles SP, Li X, Hrstka SC, Reyes S, Oommen S, Beraldi R, Edwards J, Terzic A, Olson TM, Nelson TJ., Free PMC Article | 10/22/2016 |