Kyoko Yokomori

LEUTX mediates amplification of DUX4 signaling and aberrant myotube differentiation in facioscapulohumeral muscular dystrophy

This study identifies LEUTX as a key amplifier of DUX4 signaling in FSHD, showing its role in disrupting myotube differentiation and promoting aberrant gene expression.

Genome-wide analysis of FSHD cell lines using Nanopore sequencing reveals allele-specific differences at DUX4 target genes and complex repeats

Engineered SMCHD1 and D4Z4 mutations reveal roles of D4Z4 heterochromatin disruption and feedforward DUX4 network activation in FSHD

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

Muscle group specific transcriptomic and DNA methylation differences related to developmental patterning in FSHD

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

Relationship of DUX4 and target gene expression in FSHD myocytes

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.

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei

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

The cohesin loader NIPBL interacts with pre-ribosomal RNA and treacle to regulate ribosomal RNA synthesis

This study identifies NIPBL's interaction with RNA and treacle in regulating pre-rRNA transcription and nucleolar organization.

The Effect Of Nipped-B-Like (Nipbl) Haploinsufficiency On Genome-Wide Cohesin Binding And Target Gene Expression: Modeling Cornelia de Lange Syndrome

This study examines how Nipbl haploinsufficiency affects cohesin binding and gene expression in mice, linking reduced cohesin function to CdLS-related gene dysregulation.