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Select item 111785301.

Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models

Yang Li, Ke Ma, Zhujun Dong, Shijuan Gao, Jing Zhang, Shan Huang, Jie Yang, Guangming Fang, Yujie Li, Xiaowei Li, Carrie Welch, Emily L. Griffin, Prema Ramaswamy, Zaheer Valivullah, Xiuying Liu, Jianzeng Dong, Dao Wen Wang, Du, Wendy K. Chung, Yulin Li

J Clin Invest. 2024 Jun 17; 134(12): e177172. Published online 2024 Jun 17. doi: 10.1172/JCI177172

PMCID:: PMC11178530

Abstract Article PDF–15M

Select item 109176602.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 103713473.

Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy

Yanghai Zhang, Zachery R. Gregorich, Yujuan Wang, Camila Urbano Braz, Jibin Zhang, Yang Liu, Peiheng Liu, Jiaxi Shen, Nanyumuzi Aori, Timothy A. Hacker, Henk Granzier, Wei Guo

JCI Insight. 2023 Jul 10; 8(13): e170001. Published online 2023 Jul 10. doi: 10.1172/jci.insight.170001

PMCID:: PMC10371347

Abstract Article PDF–26M

Select item 103232514.

Quaking regulates circular RNA production in cardiomyocytes

Pablo Montañés-Agudo, Ingeborg van der Made, Simona Aufiero, Anke J. Tijsen, Yigal M. Pinto, Esther E. Creemers

J Cell Sci. 2023 Jul 1; 136(13): jcs261120. Published online 2023 Jun 30. doi: 10.1242/jcs.261120

PMCID:: PMC10323251

Abstract Article

Select item 102877525.

Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy

Markus Grosch, Laura Schraft, Adrian Chan, Leonie Küchenhoff, Kleopatra Rapti, Anne-Maud Ferreira, Julia Kornienko, Shengdi Li, Michael H. Radke, Chiara Krämer, Sandra Clauder-Münster, Emerald Perlas, Johannes Backs, Michael Gotthardt, Christoph Dieterich, Maarten M. G. van den Hoogenhof, Dirk Grimm, Lars M. Steinmetz

Nat Commun. 2023; 14: 3714. Published online 2023 Jun 22. doi: 10.1038/s41467-023-39352-1

PMCID:: PMC10287752

Abstract Article PDF–8.5M

Select item 100884656.

Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy

Takahiko Nishiyama, Yu Zhang, Miao Cui, Hui Li, Efrain Sanchez-Ortiz, John R. McAnally, Wei Tan, Jiwoong Kim, Kenian Chen, Lin Xu, Rhonda Bassel-Duby, Eric N. Olson

Sci Transl Med. Author manuscript; available in PMC 2023 Apr 11.

Published in final edited form as: Sci Transl Med. 2022 Nov 23; 14(672): eade1633. Published online 2022 Nov 23. doi: 10.1126/scitranslmed.ade1633

PMCID:: PMC10088465

Abstract Article PDF–3.2M

Select item 97797517.

Rbm20^ΔRRM Mice, Expressing a Titin Isoform with Lower Stiffness, Are Protected from Mechanical Ventilation-Induced Diaphragm Weakness

Marloes van den Berg, Eva L. Peters, Robbert J. van der Pijl, Shengyi Shen, Leo M. A. Heunks, Henk L. Granzier, Coen A. C. Ottenheijm

Int J Mol Sci. 2022 Dec; 23(24): 15689. Published online 2022 Dec 10. doi: 10.3390/ijms232415689

PMCID:: PMC9779751

Abstract Article PDF–3.2M

Select item 96914968.

I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy

Takuma Yamamoto, Rie Sano, Aya Miura, Mai Imasaka, Yoshiro Naito, Minori Nishiguchi, Kensuke Ihara, Naruhito Otani, Yoshihiko Kominato, Masaki Ohmuraya, Hidehito Kuroyanagi, Hajime Nishio

J Mol Med (Berl) 2022; 100(12): 1741–1754. Published online 2022 Oct 5. doi: 10.1007/s00109-022-02262-8

PMCID:: PMC9691496

Abstract Article PDF–2.4M

Select item 94736879.

The skeletal muscle circadian clock regulates titin splicing through RBM20

Lance A Riley, Xiping Zhang, Collin M Douglas, Joseph M Mijares, David W Hammers, Christopher A Wolff, Neil B Wood, Hailey R Olafson, Ping Du, Siegfried Labeit, Michael J Previs, Eric T Wang, Karyn A Esser

eLife. 2022; 11: e76478. Published online 2022 Sep 1. doi: 10.7554/eLife.76478

PMCID:: PMC9473687

Abstract Article PDF–6.3M

Select item 923341310.

RBM20 phosphorylation and its role in nucleocytoplasmic transport and cardiac pathogenesis

Yanghai Zhang, Chunyan Wang, Mingming Sun, Yutong Jin, Camila Urbano Braz, Hasan Khatib, Timothy A. Hacker, Martin Liss, Michael Gotthardt, Henk Granzier, Ying Ge, Wei Guo

FASEB J. 2022 May; 36(5): e22302. Published online 2022 Apr 8. doi: 10.1096/fj.202101811RR

PMCID:: PMC9233413

Abstract Article PDF–2.5M

Select item 908452411.

The X-linked splicing regulator MBNL3 has been co-opted to restrict placental growth in eutherians

Thomas Spruce, Mireya Plass, André Gohr, Debashish Ray, María Martínez de Lagrán, Gregor Rot, Ana Nóvoa, Demian Burguera, Jon Permanyer, Marta Miret, Hong Zheng, Maurice S. Swanson, Quaid Morris, Moises Mallo, Mara Dierssen, Timothy R. Hughes, Barbara Pernaute, Manuel Irimia

PLoS Biol. 2022 Apr; 20(4): e3001615. Published online 2022 Apr 27. doi: 10.1371/journal.pbio.3001615

PMCID:: PMC9084524

Abstract Article PDF–3.0M

Select item 894068612.

RBM20^S639G mutation is a high genetic risk factor for premature death through RNA-protein condensates

Chunyan Wang, Yanghai Zhang, Mei Methawasin, Camila Urbano Braz, Jeffrey Gao-Hu, Betty Yang, Joshua Strom, Jochen Gohlke, Timothy Hacker, Hasan Khatib, Henk Granzier, Wei Guo

J Mol Cell Cardiol. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: J Mol Cell Cardiol. 2022 Apr; 165: 115–129. Published online 2022 Jan 15. doi: 10.1016/j.yjmcc.2022.01.004

PMCID:: PMC8940686

Abstract Article PDF–2.5M

Select item 793877013.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 759152014.

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

Kensuke Ihara, Tetsuo Sasano, Yuichi Hiraoka, Marina Togo-Ohno, Yurie Soejima, Motoji Sawabe, Megumi Tsuchiya, Hidesato Ogawa, Tetsushi Furukawa, Hidehito Kuroyanagi

Sci Rep. 2020; 10: 17894. Published online 2020 Oct 27. doi: 10.1038/s41598-020-74800-8

PMCID:: PMC7591520

Abstract Article PDF–4.6M

Select item 739752915.

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A

William Lostal, Carinne Roudaut, Marine Faivre, Karine Charton, Laurence Suel, Nathalie Bourg, Heather Best, John Edward Smith, Jochen Gohlke, Guillaume Corre, Xidan Li, Zaher Elbeck, Ralph Knöll, Jack-Yves Deschamps, Henk Granzier, Isabelle Richard

Sci Transl Med. Author manuscript; available in PMC 2020 Aug 3.

Published in final edited form as: Sci Transl Med. 2019 Nov 27; 11(520): eaat6072. doi: 10.1126/scitranslmed.aat6072

PMCID:: PMC7397529

Abstract Article PDF–2.9M

Select item 727417416.

Deleting Titin’s C-Terminal PEVK Exons Increases Passive Stiffness, Alters Splicing, and Induces Cross-Sectional and Longitudinal Hypertrophy in Skeletal Muscle

Robbert J. van der Pijl, Brian Hudson, Tomotaroh Granzier-Nakajima, Frank Li, Anne M. Knottnerus, John Smith, Charles S. Chung, Michael Gotthardt, Henk L. Granzier, Coen A. C. Ottenheijm

Front Physiol. 2020; 11: 494. Published online 2020 May 29. doi: 10.3389/fphys.2020.00494

PMCID:: PMC7274174

Abstract Article PDF–4.2M

Select item 719261617.

Structural basis of UCUU RNA motif recognition by splicing factor RBM20

Santosh Kumar Upadhyay, Cameron D Mackereth

Nucleic Acids Res. 2020 May 7; 48(8): 4538–4550. Published online 2020 Mar 18. doi: 10.1093/nar/gkaa168

PMCID:: PMC7192616

Abstract Article PDF–5.7M

Select item 672539418.

Telencephalic Embryonic Subtractive Sequences: A Unique Collection of Neurodevelopmental Genes

Alessandro Bulfone, Pietro Carotenuto, Andrea Faedo, Veruska Aglio, Livia Garzia, Anna Maria Bello, Andrea Basile, Alessandra Andrè, Massimo Cocchia, Ombretta Guardiola, Andrea Ballabio, John L. R. Rubenstein, Massimo Zollo

J Neurosci. 2005 Aug 17; 25(33): 7586–7600. doi: 10.1523/JNEUROSCI.0522-05.2005

PMCID:: PMC6725394

Abstract Article PDF–682K

Select item 631438319.

Sarcomere length–dependent effects on Ca²⁺-troponin regulation in myocardium expressing compliant titin

King-Lun Li, Mei Methawasin, Bertrand C.W. Tanner, Henk L. Granzier, R. John Solaro, Wen-Ji Dong

J Gen Physiol. 2019 Jan 7; 151(1): 30–41. doi: 10.1085/jgp.201812218

PMCID:: PMC6314383

Abstract Article PDF–1.4M

Select item 620459920.

Titin‐based mechanosensing modulates muscle hypertrophy

Robbert van der Pijl, Joshua Strom, Stefan Conijn, Johan Lindqvist, Siegfried Labeit, Henk Granzier, Coen Ottenheijm

J Cachexia Sarcopenia Muscle. 2018 Oct; 9(5): 947–961. Published online 2018 Jul 5. doi: 10.1002/jcsm.12319

PMCID:: PMC6204599

Abstract Article PDF–1.4M

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