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Items: 1 to 20 of 129

1.
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
Remko Goossens, Marlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, Patrick J van der Vliet, Iris M Willemsen, Julie Schouten, Ignazio Maggio, Nienke van der Stoep, Rob C Hoeben, Stephen J Tapscott, Niels Geijsen, Manuel A F V Gonçalves, Sabrina Sacconi, Rabi Tawil, Silvère M van der Maarel
J Med Genet. Author manuscript; available in PMC 2024 Nov 20.
Published in final edited form as: J Med Genet. 2019 Dec; 56(12): 828–837. Published online 2019 Nov 1. doi: 10.1136/jmedgenet-2019-106402
PMCID:
PMC11578682
AbstractArticlePDF–1.4M
2.
SMCHD1 activates the expression of genes required for the expansion of human myoblasts
Matthew Man-Kin Wong, Sarah Hachmer, Ed Gardner, Valeria Runfola, Eric Arezza, Lynn A Megeney, Charles P Emerson, Jr, Davide Gabellini, F Jeffrey Dilworth
Nucleic Acids Res. 2024 Sep 9; 52(16): 9450–9462. Published online 2024 Jul 12. doi: 10.1093/nar/gkae600
PMCID:
PMC11381350
AbstractArticlePDF–1.9M
3.
Antagonistic roles of canonical and alternative-RPA in disease-associated tandem CAG repeat instability
Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, Amit L. Deshmukh, Rachel J. Harding, Stephanie Tran, Mustafa Mehkary, Vanessa Li, David E. Leib, Ran Chen, Hikari Tanaka, Amanda G. Mason, Dominique Lévesque, Mahreen Khan, Mortezaali Razzaghi, Tanya Prasolava, Stella Lanni, Nozomu Sato, Marie-Christine Caron, Gagan B. Panigrahi, Peixiang Wang, Rachel Lau, Arturo López Castel, Jean-Yves Masson, Lynette Tippett, Clinton Turner, Maria Spies, Albert R. La Spada, Eric I. Campos, Maurice A. Curtis, François-Michel Boisvert, Richard L.M. Faull, Beverly L. Davidson, Masayuki Nakamori, Hitoshi Okazawa, Marc S. Wold, Christopher E. Pearson
Cell. Author manuscript; available in PMC 2024 Oct 26.
Published in final edited form as: Cell. 2023 Oct 26; 186(22): 4898–4919.e25. Published online 2023 Oct 11. doi: 10.1016/j.cell.2023.09.008
PMCID:
PMC11209935
AbstractArticlePDF–3.0M
4.
DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis
Eden Engal, Aveksha Sharma, Uria Aviel, Nadeen Taqatqa, Sarah Juster, Shiri Jaffe-Herman, Mercedes Bentata, Ophir Geminder, Adi Gershon, Reyut Lewis, Gillian Kay, Merav Hecht, Silvina Epsztejn-Litman, Marc Gotkine, Vincent Mouly, Rachel Eiges, Maayan Salton, Yotam Drier
Sci Adv. 2024 May 31; 10(22): eadn7732. Published online 2024 May 29. doi: 10.1126/sciadv.adn7732
PMCID:
PMC11135424
AbstractArticlePDF–4.7M
5.
Nasal construction in congenital arhinia due to novel SMCHD1 gene variant
Marie Bargiela, Janina Kueper, Arman T. Serebrakian, MaKenna R. Browne, Susan Brogna, Zachary S. Peacock, Branko Bojovic, Natalie D. Shaw, Eric C. Liao
J Craniofac Surg. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: J Craniofac Surg. 2023 May 1; 34(3): 849–854. Published online 2023 Mar 22. doi: 10.1097/SCS.0000000000009261
PMCID:
PMC10802859
AbstractArticlePDF–1.9M
6.
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype
Camille Laberthonnière, Mégane Delourme, Raphaël Chevalier, Camille Dion, Benjamin Ganne, David Hirst, Leslie Caron, Pierre Perrin, José Adélaïde, Max Chaffanet, Shifeng Xue, Karine Nguyen, Bruno Reversade, Jérôme Déjardin, Anaïs Baudot, Jérôme D Robin, Frédérique Magdinier
Nucleic Acids Res. 2023 Aug 11; 51(14): 7269–7287. Published online 2023 Jun 19. doi: 10.1093/nar/gkad523
PMCID:
PMC10415154
AbstractArticlePDF–3.5M
7.
SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action
Darina Šikrová, Alessandra M. Testa, Iris Willemsen, Anita van den Heuvel, Stephen J. Tapscott, Lucia Daxinger, Judit Balog, Silvère M. van der Maarel
Commun Biol. 2023; 6: 677. Published online 2023 Jun 28. doi: 10.1038/s42003-023-05053-0
PMCID:
PMC10307901
AbstractArticlePDF–1.2M
8.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
9.
Analysis of Ku70 S155 Phospho-Specific BioID2 Interactome Identifies Ku Association with TRIP12 in Response to DNA Damage
Sanna Abbasi, Laila Bayat, Caroline Schild-Poulter
Int J Mol Sci. 2023 Apr; 24(8): 7041. Published online 2023 Apr 11. doi: 10.3390/ijms24087041
PMCID:
PMC10138931
AbstractArticlePDF–4.0M
10.
Fibril treatment changes protein interactions of tau and α-synuclein in human neurons
Tagan A. Griffin, Paul D. Schnier, Elisa M. Cleveland, Robert W. Newberry, Julia Becker, George A. Carlson
J Biol Chem. 2023 Mar; 299(3): 102888. Published online 2023 Jan 10. doi: 10.1016/j.jbc.2023.102888
PMCID:
PMC9978635
AbstractArticlePDF–10M
11.
Targeting USP10 induces degradation of oncogenic ANLN in esophageal squamous cell carcinoma
Yu-Fei Cao, Lei Xie, Bei-Bei Tong, Man-Yu Chu, Wen-Qi Shi, Xiang Li, Jian-Zhong He, Shao-Hong Wang, Zhi-Yong Wu, Dan-Xia Deng, Ya-Qi Zheng, Zhi-Mao Li, Xiu-E Xu, Lian-Di Liao, Yin-Wei Cheng, Li-Yan Li, Li-Yan Xu, En-Min Li
Cell Death Differ. 2023 Feb; 30(2): 527–543. Published online 2022 Dec 16. doi: 10.1038/s41418-022-01104-x
PMCID:
PMC9950447
AbstractArticlePDF–8.4M
12.
DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose
Kaoru Inoue, Hamed Bostan, MaKenna R. Browne, Owen F. Bevis, Carl D. Bortner, Steven A. Moore, Aaron A. Stence, Negin P. Martin, Shih-Heng Chen, Adam B. Burkholder, Jian-Liang Li, Natalie D. Shaw
Sci Adv. 2023 Feb; 9(7): eabq7744. Published online 2023 Feb 17. doi: 10.1126/sciadv.abq7744
PMCID:
PMC9937577
AbstractArticlePDF–1.2M
13.
HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib Resistance by Suppressing Trim71-dependent RAF1 Degradation
Jingsheng Yuan, Tao Lv, Jian Yang, Zhenru Wu, Lvnan Yan, Jiayin Yang, Yujun Shi, Li Jiang
Cell Mol Gastroenterol Hepatol. 2023; 15(2): 307–325. Published online 2022 Oct 14. doi: 10.1016/j.jcmgh.2022.10.005
PMCID:
PMC9772558
AbstractArticlePDF–8.2M
14.
A whole genome CRISPR screen identifies AHR loss as a mechanism of resistance to a PARP7 inhibitor
Huadong Chen, Morgan E. Diolaiti, Patrick C. O’Leary, Ajda Rojc, Nevan J. Krogan, Minkyu Kim, Alan Ashworth
Mol Cancer Ther. Author manuscript; available in PMC 2023 Jan 5.
Published in final edited form as: Mol Cancer Ther. 2022 Jul 5; 21(7): 1076–1089. doi: 10.1158/1535-7163.MCT-21-0841
PMCID:
PMC9769698
AbstractArticlePDF–2.7M
15.
The Nse5/6-like SIMC1-SLF2 complex localizes SMC5/6 to viral replication centers
Martina Oravcová, Minghua Nie, Nicola Zilio, Shintaro Maeda, Yasaman Jami-Alahmadi, Eros Lazzerini-Denchi, James A Wohlschlegel, Helle D Ulrich, Takanori Otomo, Michael N Boddy
eLife. 2022; 11: e79676. Published online 2022 Nov 14. doi: 10.7554/eLife.79676
PMCID:
PMC9708086
AbstractArticlePDF–8.5M
16.
The in vivo Interaction Landscape of Histones H3.1 and H3.3
Robert Siddaway, Scott Milos, Étienne Coyaud, Hwa Young Yun, Shahir M. Morcos, Sanja Pajovic, Eric I. Campos, Brian Raught, Cynthia Hawkins
Mol Cell Proteomics. 2022 Oct; 21(10): 100411. Published online 2022 Sep 9. doi: 10.1016/j.mcpro.2022.100411
PMCID:
PMC9540345
AbstractArticlePDF–3.9M
17.
TRIM33 drives prostate tumor growth by stabilizing androgen receptor from Skp2‐mediated degradation
Mi Chen, Shreyas Lingadahalli, Nitin Narwade, Kate Man Kei Lei, Shanshan Liu, Zuxianglan Zhao, Yimin Zheng, Qian Lu, Alexander Hin Ning Tang, Terence Chuen Wai Poon, Edwin Cheung
EMBO Rep. 2022 Aug; 23(8): e53468. Published online 2022 Jul 4. doi: 10.15252/embr.202153468
PMCID:
PMC9346471
AbstractArticlePDF–5.2M
18.
The E3 ubiquitin ligase HECTD1 contributes to cell proliferation through an effect on mitosis
Natalie Vaughan, Nico Scholz, Catherine Lindon, Julien D. F. Licchesi
Sci Rep. 2022; 12: 13160. Published online 2022 Aug 1. doi: 10.1038/s41598-022-16965-y
PMCID:
PMC9343455
AbstractArticlePDF–3.7M
19.
HSF1 phosphorylation establishes an active chromatin state via the TRRAP–TIP60 complex and promotes tumorigenesis
Mitsuaki Fujimoto, Ryosuke Takii, Masaki Matsumoto, Mariko Okada, Keiich I. Nakayama, Ryuichiro Nakato, Katsunori Fujiki, Katsuhiko Shirahige, Akira Nakai
Nat Commun. 2022; 13: 4355. Published online 2022 Jul 29. doi: 10.1038/s41467-022-32034-4
PMCID:
PMC9338313
AbstractArticlePDF–2.8M
20.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery
Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili
Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z
PMCID:
PMC9279285
AbstractArticlePDF–2.5M

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