Rhabdomyosarcoma

SX Skapek, A Ferrari, AA Gupta, PJ Lupo… - Nature reviews disease …, 2019 - nature.com
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and
represents a high-grade neoplasm of skeletal myoblast-like cells. Decades of clinical and …

[PDF][PDF] Gene regulatory networks and transcriptional mechanisms that control myogenesis

M Buckingham, PWJ Rigby - Developmental cell, 2014 - cell.com
We discuss the upstream regulators of myogenesis that lead to the activation of myogenic
determination genes and subsequent differentiation, focusing on the mouse model. Key …

[PDF][PDF] Cicero predicts cis-regulatory DNA interactions from single-cell chromatin accessibility data

HA Pliner, JS Packer, JL McFaline-Figueroa… - Molecular cell, 2018 - cell.com
Linking regulatory DNA elements to their target genes, which may be located hundreds of
kilobases away, remains challenging. Here, we introduce Cicero, an algorithm that identifies …

[PDF][PDF] Pioneer transcription factors target partial DNA motifs on nucleosomes to initiate reprogramming

A Soufi, MF Garcia, A Jaroszewicz, N Osman… - Cell, 2015 - cell.com
Pioneer transcription factors (TFs) access silent chromatin and initiate cell-fate changes,
using diverse types of DNA binding domains (DBDs). FoxA, the paradigm pioneer TF, has a …

H3K4 mono-and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation

JE Lee, C Wang, S Xu, YW Cho, L Wang, X Feng… - elife, 2013 - elifesciences.org
Enhancers play a central role in cell-type-specific gene expression and are marked by
H3K4me1/2. Active enhancers are further marked by H3K27ac. However, the …

TWIST2-mediated chromatin remodeling promotes fusion-negative rhabdomyosarcoma

AM Shah, L Guo, MG Morales, P Jaichander… - Science …, 2023 - science.org
Rhabdomyosarcoma (RMS) is a common soft tissue sarcoma in children that resembles
developing skeletal muscle. Unlike normal muscle cells, RMS cells fail to differentiate …

MEK inhibition induces MYOG and remodels super-enhancers in RAS-driven rhabdomyosarcoma

ME Yohe, BE Gryder, JF Shern, YK Song… - Science translational …, 2018 - science.org
The RAS isoforms are frequently mutated in many types of human cancers, including
PAX3/PAX7 fusion-negative rhabdomyosarcoma. Pediatric RMS arises from skeletal muscle …

GIGGLE: a search engine for large-scale integrated genome analysis

RM Layer, BS Pedersen, T DiSera, GT Marth, J Gertz… - Nature …, 2018 - nature.com
GIGGLE is a genomics search engine that identifies and ranks the significance of genomic
loci shared between query features and thousands of genome interval files. GIGGLE …

Molecular and cellular regulation of skeletal myogenesis

G Comai, S Tajbakhsh - Current topics in developmental biology, 2014 - Elsevier
Since the seminal discovery of the cell-fate regulator Myod, studies in skeletal myogenesis
have inspired the search for cell-fate regulators of similar potential in other tissues and …

[HTML][HTML] Epigenetic modifications in muscle regeneration and progression of Duchenne muscular dystrophy

A Rugowska, A Starosta, P Konieczny - Clinical epigenetics, 2021 - Springer
Duchenne muscular dystrophy (DMD) is a multisystemic disorder that affects 1: 5000 boys.
The severity of the phenotype varies dependent on the mutation site in the DMD gene and …