Takako Iida 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.

The paper compares two custom-built electrodes to a discontinued commercial electrode for neuromuscular stimulation in mice, finding no significant differences in torque output.

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

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