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Items: 1 to 20 of 34

1.
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
AbstractArticlePDF–4.8M
2.
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
AbstractArticlePDF–26M
3.
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
AbstractArticlePDF–3.2M
4.
Rbm20ΔRRM 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
AbstractArticlePDF–3.2M
5.
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
AbstractArticlePDF–2.4M
6.
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
AbstractArticlePDF–6.3M
7.
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
AbstractArticlePDF–2.5M
8.
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
AbstractArticlePDF–3.0M
9.
RBM20S639G 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
AbstractArticlePDF–2.5M
10.
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
AbstractArticlePDF–2.0M
11.
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
AbstractArticlePDF–4.6M
12.
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
AbstractArticlePDF–2.9M
13.
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
AbstractArticlePDF–4.2M
14.
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
AbstractArticlePDF–5.7M
15.
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
AbstractArticlePDF–682K
16.
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
AbstractArticlePDF–1.4M
17.
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
AbstractArticlePDF–1.4M
18.
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization
Rie Murayama, Mariko Kimura-Asami, Marina Togo-Ohno, Yumiko Yamasaki-Kato, Taeko K. Naruse, Takeshi Yamamoto, Takeharu Hayashi, Tomohiko Ai, Katherine G. Spoonamore, Richard J. Kovacs, Matteo Vatta, Mai Iizuka, Masumi Saito, Shotaro Wani, Yuichi Hiraoka, Akinori Kimura, Hidehito Kuroyanagi
Sci Rep. 2018; 8: 8970. Published online 2018 Jun 12. doi: 10.1038/s41598-018-26624-w
PMCID:
PMC5997748
AbstractArticlePDF–2.9M
19.
Cardiac circRNAs arise mainly from constitutive exons rather than alternatively spliced exons
Simona Aufiero, Maarten M.G. van den Hoogenhof, Yolan J. Reckman, Abdelaziz Beqqali, Ingeborg van der Made, Jolanda Kluin, Mohsin A.F. Khan, Yigal M. Pinto, Esther E. Creemers
RNA. 2018 Jun; 24(6): 815–827. doi: 10.1261/rna.064394.117
PMCID:
PMC5959250
AbstractArticlePDF–3.3M
20.
Thin filament length in the cardiac sarcomere varies with sarcomere length but is independent of titin and nebulin
Justin Kolb, Frank Li, Mei Methawasin, Maya Adler, Yael-Natalie Escobar, Joshua Nedrud, Christopher T. Pappas, Samantha P. Harris, Henk Granzier
J Mol Cell Cardiol. Author manuscript; available in PMC 2017 Sep 5.
Published in final edited form as: J Mol Cell Cardiol. 2016 Aug; 97: 286–294. Published online 2016 Apr 30. doi: 10.1016/j.yjmcc.2016.04.013
PMCID:
PMC5584371
AbstractArticlePDF–1.0M

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