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Rebs, Sabine [Author]

Analysis of splice-defect associated cardiac diseases using a patient-specific iPSC-cardiomyocyte system

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Göttingen: Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2021
Eberle, Hanna [Author]; Rebs, Sabine [Author]; Hoppe, Stefanie [Author]; Sedaghat-Hamedani, Farbod [Author]; Kayvanpour, Elham [Author]; Meder, Benjamin [Author]; Streckfuss-Bömeke, Katrin [Author]

Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies

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February 2024

Published in: Stem cell research ; 74(2024) vom: Feb., Artikel-ID 103290, Seite 1-6
Ebbinghaus, Hans [Author] ; Milting, Hendrik [Other]; Stratmann, Bernd [Other] Medizinische Fakultät

Etablierung zellulärer Testsysteme zur Untersuchung Kardiomyopathie-assoziierter RBM20-Mutationen in HL1- Zellen und murinen embryonalen Stammzellen (CM7/1) mittels CRISPR-Cas9

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Bochum: Ruhr-Universität Bochum, 2022
Pitt, Geoffrey S.; Long, Yicheng

Mutations of Splicing Regulator RBM20 in Atrial Fibrillation

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Elsevier BV, 2024

Published in: JACC: Basic to Translational Science, 9 (2024) 2, Seite 181-184
Gaertner, Anna; Klauke, Bärbel; Brodehl, Andreas; Milting, Hendrik

RBM20 mutations in left ventricular non‐compaction cardiomyopathy

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Wiley, 2020

Published in: Pediatric Investigation, 4 (2020) 1, Seite 61-63
Ebbinghaus, Hans [Author] ; Milting, Hendrik [Other]; Stratmann, Bernd [Other] Medizinische Fakultät

Etablierung zellulärer Testsysteme zur Untersuchung Kardiomyopathie-assoziierter RBM20-Mutationen in HL1- Zellen und murinen embryonalen Stammzellen (CM7/1) mittels CRISPR-Cas9

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Bochum: Ruhr-Universität Bochum, 2022
Nishiyama, Takahiko; Zhang, Yu; mcanally, john; Xu, Lin; Liu, Ning; Bassel-duby, Rhonda S; Olson, Eric N

Abstract 11164: Precise Genomic Correction of RBM20 Mutations Rescues Dilated Cardiomyopathy

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Ovid Technologies (Wolters Kluwer Health), 2022

Published in: Circulation, 146 (2022) Suppl_1
Nishiyama, Takahiko; Zhang, Yu; Cui, Miao; Li, Hui; Sanchez-Ortiz, Efrain; McAnally, John R.; Tan, Wei; Kim, Jiwoong; Chen, Kenian; Xu, Lin; Bassel-Duby, Rhonda; Olson, Eric N.

Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy

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American Association for the Advancement of Science (AAAS), 2022

Published in: Science Translational Medicine, 14 (2022) 672
Lennermann, David C.; Pepin, Mark E.; Grosch, Markus; Konrad, Laura; Kemmling, Elena; Hartmann, Joshua; Nolte, Janica L.; Clauder-Münster, Sandra; Kayvanpour, Elham; Sedaghat-Hamedani, Farbod; Haas, Jan; Meder, Benjamin; van den Boogaard, Malou; Amin, Ahmad S.; Dewenter, Matthias; Krüger, Marcus; Steinmetz, Lars M.; Backs, Johannes; van den Hoogenhof, Maarten M. G.

Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy

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American Physiological Society, 2022

Published in: American Journal of Physiology-Heart and Circulatory Physiology, 323 (2022) 6, Seite H1296-H1310
Das, Soumi; Seth, Sandeep

Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report

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Springer Science and Business Media LLC, 2021

Published in: The Egyptian Heart Journal, 73 (2021) 1
Gaertner, Anna; Klauke, Baerbel; Felski, Elina; Kassner, Astrid; Brodehl, Andreas; Gerdes, Désirée; Stanasiuk, Caroline; Ebbinghaus, Hans; Schulz, Uwe; Dubowy, Karl‐Otto; Tiesmeier, Jens; Laser, Kai‐Thorsten; Bante, Hendrik; Bergau, Leonard; Sommer, Philipp; Fox, Henrik; Morshuis, Michiel; Gummert, Jan; Milting, Hendrik

Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20

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Hindawi Limited, 2020

Published in: Human Mutation, 41 (2020) 11, Seite 1931-1943
Pantou, Malena P.; Gourzi, Polyxeni; Gkouziouta, Aggeliki; Tsiapras, Dimitrios; Zygouri, Christianna; Constantoulakis, Pantelis; Adamopoulos, Stamatis; Degiannis, Dimitrios

Phenotypic Heterogeneity within Members of a Family Carrying the Same RBM20 Mutation R634W

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S. Karger AG, 2018

Published in: Cardiology, 141 (2018) 3, Seite 150-155
van den Hoogenhof, Maarten M.G.; Beqqali, Abdelaziz; Amin, Ahmad S.; van der Made, Ingeborg; Aufiero, Simona; Khan, Mohsin A.F.; Schumacher, Cees A.; Jansweijer, Joeri A.; van Spaendonck-Zwarts, Karin Y.; Remme, Carol Ann; Backs, Johannes; Verkerk, Arie O.; Baartscheer, Antonius; Pinto, Yigal M.; Creemers, Esther E.

RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling

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Ovid Technologies (Wolters Kluwer Health), 2018

Published in: Circulation, 138 (2018) 13, Seite 1330-1342
Sedaghat-Hamedani, F.; Haas, J.; Zhu, F.; Kayvanpour, E.; Geier, C.; Lai, A.; Frese, K.; Amr, A.; Liss, M.; Ehlermann, P.H.; Dieterich, C.; Gotthardt, M.; Katus, H.A.; Meder, B.

P1338Mutations in RBM20 and titin cause left ventricular non-compaction cardiomyopathy

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Oxford University Press (OUP), 2017

Published in: European Heart Journal, 38 (2017) suppl_1
Li, Duanxiang; Morales, Ana; Gonzalez‐Quintana, Jorge; Norton, Nadine; Siegfried, Jill D.; Hofmeyer, Mark; Hershberger, Ray E.

Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy

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Wiley, 2010

Published in: Clinical and Translational Science, 3 (2010) 3, Seite 90-97
Fenix, Aidan M.; Miyaoka, Yuichiro; Bertero, Alessandro; Blue, Steven M.; Spindler, Matthew J.; Tan, Kenneth K. B.; Perez-Bermejo, Juan A.; Chan, Amanda H.; Mayerl, Steven J.; Nguyen, Trieu D.; Russell, Caitlin R.; Lizarraga, Paweena P.; Truong, Annie; So, Po-Lin; Kulkarni, Aishwarya; Chetal, Kashish; Sathe, Shashank; Sniadecki, Nathan J.; Yeo, Gene W.; Murry, Charles E.; Conklin, Bruce R.; Salomonis, Nathan

Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies

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Springer Science and Business Media LLC, 2021

Published in: Nature Communications, 12 (2021) 1
Rebs, S; Sedaghat-Hamedani, F; Kayvanpour, E; Huebscher, D; Wagdi, A; Hasenfuss, G; Meder, B; Streckfuss-Boemeke, K

RBM20-mutations induce disturbed splicing of calcium relevant genes and guides clinically therapy in different cardiomyopathies

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Oxford University Press (OUP), 2021

Published in: European Heart Journal, 42 (2021) Supplement_1
Ihara, Kensuke; Sasano, Tetsuo; Hiraoka, Yuichi; Togo-Ohno, Marina; Soejima, Yurie; Sawabe, Motoji; Tsuchiya, Megumi; Ogawa, Hidesato; Furukawa, Tetsushi; Kuroyanagi, Hidehito

A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice

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Springer Science and Business Media LLC, 2020

Published in: Scientific Reports, 10 (2020) 1
Rebs, S; Sedaghat-Hamedani, F; Kayvanpour, E; Huebscher, D; Katus, H; Hasenfuss, G; Meder, B; Streckfuss-Boemeke, K

RBM20-mutations induce disturbed splicing of calcium relevant genes in patient-specific stem cell models of cardiomyopathies

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Oxford University Press (OUP), 2020

Published in: European Heart Journal, 41 (2020) Supplement_2
Gaertner-Rommel, A; Bloebaum, J; Klauke, B; Schulz, U; Gummert, J; Milting, H

P137Cardiomyopathy-associated arginine-mutations within the RS-domain of RBM20 lead to mislocalization of the protein

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Oxford University Press (OUP), 2018

Published in: Cardiovascular Research, 114 (2018) suppl_1, Seite S34-S34

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