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Select item 107136141.

RIF1 regulates early replication timing in murine B cells

Daniel Malzl, Mihaela Peycheva, Ali Rahjouei, Stefano Gnan, Kyle N. Klein, Mariia Nazarova, Ursula E. Schoeberl, David M. Gilbert, Sara C. B. Buonomo, Michela Di Virgilio, Tobias Neumann, Rushad Pavri

Nat Commun. 2023; 14: 8049. Published online 2023 Dec 11. doi: 10.1038/s41467-023-43778-y

PMCID:: PMC10713614

Abstract Article PDF–5.7M

Select item 106066662.

Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force

Johan Lindqvist, Henk Granzier

Int J Mol Sci. 2023 Oct; 24(20): 15124. Published online 2023 Oct 12. doi: 10.3390/ijms242015124

PMCID:: PMC10606666

Abstract Article PDF–2.9M

Select item 103662673.

Rif1 Regulates Self-Renewal and Impedes Mesendodermal Differentiation of Mouse Embryonic Stem Cells

Cheng Liu, Peng Yu, Zongna Ren, Fang Yao, Li Wang, Guang Hu, Pishun Li, Quanyi Zhao

Stem Cell Rev Rep. 2023; 19(5): 1540–1553. Published online 2023 Mar 27. doi: 10.1007/s12015-023-10525-1

PMCID:: PMC10366267

Abstract Article PDF–8.3M

Select item 97588234.

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Natasha Ranu, Jenni Laitila, Hannah F. Dugdale, Jennifer Mariano, Justin S. Kolb, Carina Wallgren-Pettersson, Nanna Witting, John Vissing, Juan Jesus Vilchez, Chiara Fiorillo, Edmar Zanoteli, Mari Auranen, Manu Jokela, Giorgio Tasca, Kristl G. Claeys, Nicol C. Voermans, Johanna Palmio, Sanna Huovinen, Maurizio Moggio, Thomas Nyegaard Beck, Aikaterini Kontrogianni-Konstantopoulos, Henk Granzier, Julien Ochala

Acta Neuropathol Commun. 2022; 10: 185. Published online 2022 Dec 17. doi: 10.1186/s40478-022-01491-9

PMCID:: PMC9758823

Abstract Article PDF–4.3M

Select item 90075885.

Protection of nascent DNA at stalled replication forks is mediated by phosphorylation of RIF1 intrinsically disordered region

Sandhya Balasubramanian, Matteo Andreani, Júlia Goncalves Andrade, Tannishtha Saha, Devakumar Sundaravinayagam, Javier Garzón, Wenzhu Zhang, Oliver Popp, Shin-ichiro Hiraga, Ali Rahjouei, Daniel B Rosen, Philipp Mertins, Brian T Chait, Anne D Donaldson, Michela Di Virgilio

eLife. 2022; 11: e75047. Published online 2022 Apr 13. doi: 10.7554/eLife.75047

PMCID:: PMC9007588

Abstract Article PDF–2.2M

Select item 88182036.

Elevated RIF1 participates in the epigenetic abnormalities of zygotes by regulating histone modifications on MuERV-L in obese mice

Jiliang Huang, Gaizhen Ru, Jiajia Sun, Luying Sun, Zhiling Li

Mol Med. 2022; 28: 17. Published online 2022 Feb 5. doi: 10.1186/s10020-022-00446-z

PMCID:: PMC8818203

Abstract Article PDF–7.0M

Select item 86860757.

Loss of full-length DNA replication regulator Rif1 in two-cell embryos is associated with zygotic transcriptional activation

Naoko Yoshizawa-Sugata, Satoshi Yamazaki, Kaoru Mita-Yoshida, Tomio Ono, Yasumasa Nishito, Hisao Masai

J Biol Chem. 2021 Dec; 297(6): 101367. Published online 2021 Nov 1. doi: 10.1016/j.jbc.2021.101367

PMCID:: PMC8686075

Abstract Article PDF–5.3M

Select item 84824998.

Splicing factor Srsf5 deletion disrupts alternative splicing and causes noncompaction of ventricular myocardium

Xiaoli Zhang, Ze Wang, Qing Xu, Yuhan Chen, Wen Liu, Tong Zhong, Hongchang Li, Chengshi Quan, Lingqiang Zhang, Chun-Ping Cui

iScience. 2021 Oct 22; 24(10): 103097. Published online 2021 Sep 10. doi: 10.1016/j.isci.2021.103097

PMCID:: PMC8482499

Abstract Article PDF–5.1M

Select item 81317039.

Nuclear organisation and replication timing are coupled through RIF1–PP1 interaction

Stefano Gnan, Ilya M. Flyamer, Kyle N. Klein, Eleonora Castelli, Alexander Rapp, Andreas Maiser, Naiming Chen, Patrick Weber, Elin Enervald, M. Cristina Cardoso, Wendy A. Bickmore, David M. Gilbert, Sara C. B. Buonomo

Nat Commun. 2021; 12: 2910. Published online 2021 May 18. doi: 10.1038/s41467-021-22899-2

PMCID:: PMC8131703

Abstract Article PDF–3.4M

Select item 796892510.

TWIST1 and chromatin regulatory proteins interact to guide neural crest cell differentiation

Xiaochen Fan, V Pragathi Masamsetti, Jane QJ Sun, Kasper Engholm-Keller, Pierre Osteil, Joshua Studdert, Mark E Graham, Nicolas Fossat, Patrick PL Tam

eLife. 2021; 10: e62873. Published online 2021 Feb 8. doi: 10.7554/eLife.62873

PMCID:: PMC7968925

Abstract Article PDF–4.0M

Select item 793877011.

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 767373812.

Nebulin and Lmod2 are critical for specifying thin-filament length in skeletal muscle

Balázs Kiss, Jochen Gohlke, Paola Tonino, Zaynab Hourani, Justin Kolb, Joshua Strom, Olga Alekhina, John E. Smith, III, Coen Ottenheijm, Carol Gregorio, Henk Granzier

Sci Adv. 2020 Nov; 6(46): eabc1992. Published online 2020 Nov 11. doi: 10.1126/sciadv.abc1992

PMCID:: PMC7673738

Abstract Article PDF–2.2M

Select item 739367913.

In vivo characterization of skeletal muscle function in nebulin-deficient mice

Charlotte Gineste, Augustin C. Ogier, Isabelle Varlet, Zaynab Hourani, Monique Bernard, Henk Granzier, David Bendahan, Julien Gondin

Muscle Nerve. Author manuscript; available in PMC 2020 Jul 31.

Published in final edited form as: Muscle Nerve. 2020 Mar; 61(3): 416–424. Published online 2020 Jan 21. doi: 10.1002/mus.26798

PMCID:: PMC7393679

Abstract Article PDF–1.0M

Select item 739258714.

Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy

Barbara Joureau, Josine M. de Winter, Kelly Stam, Henk Granzier, Coen A.C. Ottenheijm

Neuromuscul Disord. Author manuscript; available in PMC 2020 Jul 30.

Published in final edited form as: Neuromuscul Disord. 2017 Jan; 27(1): 83–89. Published online 2016 Oct 25. doi: 10.1016/j.nmd.2016.10.004

PMCID:: PMC7392587

Abstract Article PDF–575K

Select item 726419715.

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Johan Lindqvist, Weikang Ma, Frank Li, Yaeren Hernandez, Justin Kolb, Balazs Kiss, Paola Tonino, Robbert van der Pijl, Esmat Karimi, Henry Gong, Josh Strom, Zaynab Hourani, John E. Smith, III, Coen Ottenheijm, Thomas Irving, Henk Granzier

Nat Commun. 2020; 11: 2699. Published online 2020 Jun 1. doi: 10.1038/s41467-020-16526-9

PMCID:: PMC7264197

Abstract Article PDF–2.5M

Select item 724121516.

Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice

Haoyong Wang, Xiaoyue Nie, Xin Li, Yi Fang, Dandan Wang, William Wang, Yong Hu, Zijing Liu, Cheng Cao

Med Sci Monit. 2020; 26: e922953-1–e922953-9. Prepublished online 2020 May 4. Published online 2020 May 11. doi: 10.12659/MSM.922953

PMCID:: PMC7241215

Abstract Article PDF–1.1M

Select item 713233817.

USP1 deubiquitinates Akt to inhibit PI3K‐Akt‐FoxO signaling in muscle during prolonged starvation

Dana Goldbraikh, Danielle Neufeld, Yara Eid‐Mutlak, Inbal Lasry, Jennifer E Gilda, Anna Parnis, Shenhav Cohen

EMBO Rep. 2020 Apr 3; 21(4): e48791. Published online 2020 Mar 5. doi: 10.15252/embr.201948791

PMCID:: PMC7132338

Abstract Article PDF–1.6M

Select item 702723918.

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak

Acta Neuropathol Commun. 2020; 8: 18. Published online 2020 Feb 17. doi: 10.1186/s40478-020-0893-1

PMCID:: PMC7027239

Abstract Article PDF–9.5M

Select item 685330619.

Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy

Johan Lindqvist, Eun-Jeong Lee, Esmat Karimi, Justin Kolb, Henk Granzier

PLoS One. 2019; 14(11): e0224467. Published online 2019 Nov 13. doi: 10.1371/journal.pone.0224467

PMCID:: PMC6853306

Abstract Article PDF–1.6M

Select item 680441220.

Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse

Jennifer A Tinklenberg, Emily M Siebers, Margaret J Beatka, Brittany A Fickau, Samuel Ayres, Hui Meng, Lin Yang, Pippa Simpson, Henk L Granzier, Michael W Lawlor

J Neuropathol Exp Neurol. 2019 Feb; 78(2): 130–139. Published online 2018 Dec 29. doi: 10.1093/jnen/nly120

PMCID:: PMC6804412

Abstract Article PDF–1.5M

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