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Select item 115786821.

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

Abstract Article PDF–1.4M

Select item 115314832.

Temporal variation in p38-mediated regulation of DUX4 in facioscapulohumeral muscular dystrophy

Rajanikanth Vangipurapu, Jonathan Oliva, Amelia Fox, Francis M. Sverdrup

Sci Rep. 2024; 14: 26437. Published online 2024 Nov 2. doi: 10.1038/s41598-024-77911-8

PMCID:: PMC11531483

Abstract Article PDF–4.8M

Select item 111354243.

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

Abstract Article PDF–4.7M

Select item 109697904.

The DUX4–HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected

Thuy-Hang Nguyen, Maelle Limpens, Sihame Bouhmidi, Lise Paprzycki, Alexandre Legrand, Anne-Emilie Declèves, Philipp Heher, Alexandra Belayew, Christopher R. S. Banerji, Peter S. Zammit, Alexandra Tassin

Int J Mol Sci. 2024 Mar; 25(6): 3327. Published online 2024 Mar 15. doi: 10.3390/ijms25063327

PMCID:: PMC10969790

Abstract Article PDF–8.2M

Select item 109191555.

DUX4-induced HSATII transcription causes KDM2A/B–PRC1 nuclear foci and impairs DNA damage response

Tessa Arends, Hiroshi Tsuchida, Richard O. Adeyemi, Stephen J. Tapscott

J Cell Biol. 2024 May 6; 223(5): e202303141. Published online 2024 Mar 7. doi: 10.1083/jcb.202303141

PMCID:: PMC10919155

Abstract Article PDF–7.9M

Select item 108810586.

DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia

Daniele Campolungo, Mara Salomé, Beatrice Biferali, Anna Sofia Tascini, Davide Gabellini

Sci Adv. 2023 Sep; 9(37): eadi3771. Published online 2023 Sep 15. doi: 10.1126/sciadv.adi3771

PMCID:: PMC10881058

Abstract Article PDF–1.8M

Select item 107774877.

Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models

Renatta N. Knox, Jocelyn O. Eidahl, Lindsay Wallace, Sarah Choudury, Afrooz Rashnonejad, Katelyn Daman, Matthew Guggenbiller, Nizar Saad, Michael E. Hoover, Liwen Zhang, Owen E. Branson, Charles P. Emerson, Jr., Michael A. Freitas, Scott Q. Harper

Ann Neurol. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Ann Neurol. 2023 Aug; 94(2): 398–413. Published online 2023 May 19. doi: 10.1002/ana.26668

PMCID:: PMC10777487

Abstract Article PDF–2.3M

Select item 107249308.

Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene

Thuy-Hang Nguyen, Lise Paprzycki, Alexandre Legrand, Anne-Emilie Declèves, Philipp Heher, Maelle Limpens, Alexandra Belayew, Christopher R. S. Banerji, Peter S. Zammit, Alexandra Tassin

Skelet Muscle. 2023; 13: 21. Published online 2023 Dec 16. doi: 10.1186/s13395-023-00330-2

PMCID:: PMC10724930

Abstract Article PDF–7.3M

Select item 105924549.

Compromised nonsense-mediated RNA decay results in truncated RNA-binding protein production upon DUX4 expression

Amy E. Campbell, Michael C. Dyle, Roberto Albanese, Tyler Matheny, Kavitha Sudheendran, Michael A. Cortázar, Thomas Forman, Rui Fu, Austin E. Gillen, Marvin H. Caruthers, Stephen N. Floor, Lorenzo Calviello, Sujatha Jagannathan

Cell Rep. Author manuscript; available in PMC 2023 Oct 23.

Published in final edited form as: Cell Rep. 2023 Jun 27; 42(6): 112642. Published online 2023 Jun 13. doi: 10.1016/j.celrep.2023.112642

PMCID:: PMC10592454

Abstract Article PDF–1.9M

Select item 1059188010.

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy

Valeria Runfola, Roberto Giambruno, Claudia Caronni, Maria Pannese, Annapaola Andolfo, Davide Gabellini

Cell Rep. Author manuscript; available in PMC 2023 Oct 23.

Published in final edited form as: Cell Rep. 2023 Sep 26; 42(9): 113120. Published online 2023 Sep 12. doi: 10.1016/j.celrep.2023.113120

PMCID:: PMC10591880

Abstract Article PDF–2.1M

Select item 1057831811.

DUX4 expression in cancer induces a metastable early embryonic totipotent program

Andrew A. Smith, Yee Nip, Sean R. Bennett, Danielle C. Hamm, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Manu Setty, Silvère M. van der Maarel, Stephen J. Tapscott

Cell Rep. Author manuscript; available in PMC 2023 Oct 16.

Published in final edited form as: Cell Rep. 2023 Sep 26; 42(9): 113114. Published online 2023 Sep 8. doi: 10.1016/j.celrep.2023.113114

PMCID:: PMC10578318

Abstract Article PDF–2.0M

Select item 1055384112.

The transcription factor DUX4 orchestrates translational reprogramming by broadly suppressing translation efficiency and promoting expression of DUX4-induced mRNAs

Danielle C. Hamm, Ellen M. Paatela, Sean R. Bennett, Chao-Jen Wong, Amy E. Campbell, Cynthia L. Wladyka, Andrew A. Smith, Sujatha Jagannathan, Andrew C. Hsieh, Stephen J. Tapscott

PLoS Biol. 2023 Sep; 21(9): e3002317. Published online 2023 Sep 25. doi: 10.1371/journal.pbio.3002317

PMCID:: PMC10553841

Abstract Article PDF–3.3M

Select item 1049982113.

Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets

Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson

Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8

PMCID:: PMC10499821

Abstract Article PDF–2.6M

Select item 1025355114.

Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments

Elisa Duranti, Chiara Villa

Int J Mol Sci. 2023 Jun; 24(11): 9503. Published online 2023 May 30. doi: 10.3390/ijms24119503

PMCID:: PMC10253551

Abstract Article PDF–1.9M

Select item 1025020815.

WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy

Emanuele Mocciaro, Roberto Giambruno, Stefano Micheloni, Filippo M Cernilogar, Annapaola Andolfo, Cristina Consonni, Maria Pannese, Giulia Ferri, Valeria Runfola, Gunnar Schotta, Davide Gabellini

Nucleic Acids Res. 2023 Jun 9; 51(10): 5144–5161. Published online 2023 Apr 6. doi: 10.1093/nar/gkad230

PMCID:: PMC10250208

Abstract Article PDF–7.0M

Select item 1019667516.

Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD

Yee Nip, Sean R Bennett, Andrew A Smith, Takako I Jones, Peter L Jones, Stephen J Tapscott

Hum Mol Genet. 2023 Jun 1; 32(11): 1864–1874. Published online 2023 Feb 2. doi: 10.1093/hmg/ddad021

PMCID:: PMC10196675

Abstract Article PDF–1.5M

Select item 1019508217.

Human DUX4 and mouse Dux interact with STAT1 and broadly inhibit interferon-stimulated gene induction

Amy E Spens, Nicholas A Sutliff, Sean R Bennett, Amy E Campbell, Stephen J Tapscott

eLife. 2023; 12: e82057. Published online 2023 Apr 24. doi: 10.7554/eLife.82057

PMCID:: PMC10195082

Abstract Article PDF–3.6M

Select item 993757718.

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

Abstract Article PDF–1.2M

Select item 928768419.

Transient DUX4 expression in human embryonic stem cells induces blastomere-like expression program that is marked by SLC34A2

Masahito Yoshihara, Ida Kirjanov, Sonja Nykänen, Joonas Sokka, Jere Weltner, Karolina Lundin, Lisa Gawriyski, Eeva-Mari Jouhilahti, Markku Varjosalo, Mari H. Tervaniemi, Timo Otonkoski, Ras Trokovic, Shintaro Katayama, Sanna Vuoristo, Juha Kere

Stem Cell Reports. 2022 Jul 12; 17(7): 1743–1756. Published online 2022 Jun 30. doi: 10.1016/j.stemcr.2022.06.002

PMCID:: PMC9287684

Abstract Article PDF–4.0M

Select item 915299820.

Distinct clinical characteristics of DUX4- and PAX5-altered childhood B-lymphoblastic leukemia

Zhenhua Li, Shawn Hsien Ren Lee, Winnie Hui Ni Chin, Yi Lu, Nan Jiang, Evelyn Huizi Lim, Elaine Coustan-Smith, Kean Hui Chiew, Bernice Ling Zhi Oh, Grace Shimin Koh, Zhiwei Chen, Shirley Kow Yin Kham, Thuan Chong Quah, Hai Peng Lin, Ah Moy Tan, Hany Ariffin, Jun J. Yang, Allen Eng-Juh Yeoh

Blood Adv. 2021 Dec 14; 5(23): 5226–5238. Published online 2021 Dec 7. doi: 10.1182/bloodadvances.2021004895

PMCID:: PMC9152998

Abstract Article PDF–3.9M

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