Stephen J. Tapscott

The paper shows DUX4 induces HSATII RNA accumulation, leading to protein aggregation and disruption of RNA processing pathways in muscle cells.

This paper develops a multi-scale machine learning model to predict muscle and functional disease progression in FSHD using MRI and clinical data, achieving strong predictive performance in holdout datasets.

The paper identifies a specific D4Z4 sequence that can epigenetically silence a reporter gene, revealing key regulators and mechanisms of DUX4 repression in skeletal muscle.

The paper introduces STOMP, a method to create multi-regional suspended tissues for studying complex tissue interfaces, and reports altered contractile dynamics in engineered heart tissues and bone-ligament constructs.

This paper identifies a new function of MYOD as a transcriptional repressor through E-box-independent chromatin binding, revealing a mechanism to repress gene expression and maintain cell identity during myogenesis.

This study shows SUMOylation of SMCHD1 regulates its function at different genomic loci, affecting chromatin structure and DUX4 expression in FSHD.

This study shows DUX4 and mouse Dux interact with STAT1 and inhibit IFN-gamma-induced ISG expression by reducing STAT1 and Pol-II recruitment.

The paper validates the association between MRI characteristics and gene signatures in FSHD muscle, supporting their use as biomarkers for clinical trial design.

This study shows that Pbx factors are essential for embryonic fast-twitch muscle differentiation in both zebrafish and mice, with conserved gene regulation mechanisms.

This study identifies DUX4-induced bidirectional HSATII satellite repeat transcripts that form intranuclear dsRNA foci contributing to FSHD toxicity.

The paper quantifies proteomic changes in DUX4-expressing cells, revealing post-transcriptional dysregulation in FSHD pathology.