[HTML][HTML] Epigenetic silencing of β-spectrin, a TGF-β signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome

ZX Yao, W Jogunoori, S Choufani, A Rashid… - Journal of biological …, 2010 - ASBMB
Hereditary cancer syndromes provide powerful insights into dysfunctional signaling
pathways that lead to sporadic cancers. Beckwith-Wiedemann syndrome (BWS) is a
hereditary human cancer stem cell syndrome currently linked to deregulated imprinting at
chromosome 11p15 and uniparental disomy. However, causal molecular defects and
genetic models have remained elusive to date in the majority of cases. The non-pleckstrin
homology domain β-spectrin (β2SP)(the official name for human is Spectrin, beta …