Peter L. Jones

The paper identifies BAZ1A as an epigenetic facilitator of DUX4 and DBE-T expression in FSHD, showing that inhibiting BAZ1A disrupts a feed-forward loop that promotes disease pathology.

This study identifies a compound, C06, that effectively represses DUX4 expression in FSHD myocytes using AI-based screening and validation.

This paper validates DNA methylation signatures for FSHD detection using D4Z4caster software and compares Sanger and NGS methods for improved diagnostic accuracy and accessibility.

This study creates transgenic mouse models with human DUX4 regulatory elements to explore DUX4 expression patterns and their role in FSHD pathophysiology.

The paper investigates the role of Dux and MERVL in ZGA, totipotency, and cell toxicity using CRISPRa and a 2C-GFP reporter system, finding that MERVL activation contributes to expanded fate potential but not all totipotency features, while Dux-induced toxicity is independent of MERVL and involves Noxa.

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