Rabi Tawil

This study shows SMCHD1 maintains heterochromatin and genome compartments in human myoblasts by anchoring heterochromatin domains and preventing epigenome modification.

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

The paper uses engineered human myoblasts to show that D4Z4 heterochromatin disruption and DUX4 network activation are key in FSHD.

The paper identifies muscle group-specific transcriptomic and DNA methylation differences in FSHD that relate to developmental patterning and disease susceptibility.

The paper uses RNA FISH to study DUX4 and its target gene expression dynamics in FSHD patient myocytes, revealing a unique expression pattern and self-sustaining target gene network.

This study identifies p38 as a regulator of DUX4 expression in FSHD, showing that p38 inhibitors reduce DUX4 and cell death in patient-derived myotubes.

The paper uses single-nucleus RNA-seq to identify two distinct populations of FSHD2 myotube nuclei with different transcriptional profiles related to DUX4 expression.