Publications by authors named "Stephen Tapscott"

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DUX4-induced HSATII RNA accumulation drives protein aggregation, impacting RNA processing pathways.
Tessa Arends, Sean R Bennett, Stephen J Tapscott

J Cell Biol· February 2026

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Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy.
Nicholas A Sutliff, Emily Chao, Sean R Bennett, Yee Nip, Omar Lakhdari, Stephen J Tapscott

Hum Mol Genet· December 2025

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MYOD represses gene expression from non-E-box motifs.
Chiara Nicoletti, Jimmy Massenet, Andreas P Pintado-Urbanc, Leah J Connor, Monica Nicolau, Stephen J Tapscott

Genes Dev· November 2025

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Meeting report: The FSHD society 2025 international research congress.
Lucienne Ronco, Stephen Tapscott, Nicol C Voermans,

Neuromuscul Disord· November 2025

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A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing.
Ellen M Paatela, Faith G St Amant, Danielle C Hamm, Sean R Bennett, Taranjit S Gujral, Stephen J Tapscott

Hum Mol Genet· September 2025

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Electrical impedance myography captures features of muscle structure measured by MRI and transcriptomic analysis in facioscapulohumeral muscular dystrophy.
Leo H Wang, Buket Sonbas Cobb, Lara Riem, Olivia DuCharme, Dennis Ww Shaw, Stephen J Tapscott

J Neuromuscul Dis· September 2025

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Suspended Tissue Open Microfluidic Patterning (STOMP).
Amanda J Haack, Lauren G Brown, Alex J Goldstein, Priti Mulimani, Jean Berthier, Stephen J Tapscott

Adv Sci (Weinh)· July 2025

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Multi-scale machine learning model predicts muscle and functional disease progression.
Silvia S Blemker, Lara Riem, Olivia DuCharme, Megan Pinette, Kathryn Eve Costanzo, Stephen J Tapscott

Sci Rep· July 2025

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3D finite element models reveal regional fatty infiltration modulates tibialis anterior force generating capacity in FSHD.
Allison McCrady, Seth Friedman, Leo Wang, Dennis Shaw, Rabi Tawil, Stephen Tapscott

PLoS One· July 2025

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DUX4 activates common and context-specific intergenic transcripts and isoforms.
Dongxu Zheng, Anita van den Heuvel, Judit Balog, Iris M Willemsen, Susan Kloet, Stephen J Tapscott

Sci Adv· May 2025

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Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities.
Tessa Arends, Danielle C Hamm, Silvère van der Maarel, Stephen J Tapscott

Cold Spring Harb Perspect Biol· April 2025

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Suspended Tissue Open Microfluidic Patterning (STOMP).
Amanda J Haack, Lauren G Brown, Alex J Goldstein, Priti Mulimani, Jean Berthier, Stephen J Tapscott

bioRxiv· March 2025

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Multi-scale machine learning model predicts muscle and functional disease progression in FSHD.
Silvia S Blemker, Lara Riem, Olivia DuCharme, Megan Pinette, Kathryn Eve Costanzo, Stephen J Tapscott

bioRxiv· February 2025

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A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing.
Ellen M Paatela, Faith G St Amant, Danielle C Hamm, Sean R Bennett, Taranjit S Gujral, Stephen J Tapscott

bioRxiv· February 2025

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DUX4-induced HSATII RNA accumulation drives protein aggregation impacting RNA processing pathways.
Tessa Arends, Sean R Bennett, Stephen J Tapscott

bioRxiv· January 2025

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E-box independent chromatin recruitment turns MYOD into a transcriptional repressor.
Chiara Nicoletti, Jimmy Massenet, Andreas P Pintado-Urbanc, Leah J Connor, Monica Nicolau, Stephen J Tapscott

bioRxiv· December 2024

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AI driven analysis of MRI to measure health and disease progression in FSHD.
Lara Riem, Olivia DuCharme, Matthew Cousins, Xue Feng, Allison Kenney, Stephen J Tapscott

Sci Rep· July 2024

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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· May 2024

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Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
Chao-Jen Wong, Seth D Friedman, Lauren Snider, Sean R Bennett, Takako I Jones, Stephen J Tapscott

Hum Mol Genet· April 2024

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snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis.
Dongxu Zheng, Annelot Wondergem, Susan Kloet, Iris Willemsen, Judit Balog, Stephen J Tapscott

Hum Mol Genet· January 2024

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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, Stephen J Tapscott

Cell Rep· September 2023

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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, Stephen J Tapscott

PLoS Biol· September 2023

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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

Commun Biol· June 2023

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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· April 2023

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Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design.
Chao-Jen Wong, Seth D Friedman, Lauren Snider, Sean R Bennett, Takako I Jones, Stephen J Tapscott

bioRxiv· February 2023

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