Liron D Grossmann

BWS Beckwith–Wiedemann syndrome FNA fine needle aspiration GWpUPD genome-wide paternal uniparental isodisomy IC2 LOM loss of methylation at imprinting cluster two LO lateralized overgrowth MRI magnetic resonance imaging pUPD11 paternal uniparental isodisomy of chromosome 11p15 US ultrasound 1 Introduction Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused by imprinting defects on chromosome 11p15 [1].

AML acute myeloid leukemia ANC absolute neutrophil count BM bone marrow BMF bone marrow failure CBC complete blood count CFU colony-forming unit CFU-GM colony-forming unit-granulocyte-macrophage FISH fluorescence-in-situ hybridization G-CSF granulocyte colony-stimulating factor Hb hemoglobin HSC hematopoietic stem cells HSCT hematopoietic stem cell transplant iBMF inherited BMF KSS Kearns-Sayre syndrome MCV mean corpuscular volume MDS myelodysplastic syndrome mtDNA mitochondrial DNA NHANES...

Abstract The nucleosome remodeling factor BPTF is required for the deployment of the MYC-driven transcriptional program. Deletion of one Bptf allele delays tumor progression in mouse models of pancreatic cancer and lymphoma. In neuroblastoma, MYCN cooperates with the transcriptional core regulatory circuitry (CRC). High BPTF levels are associated with high-risk features and decreased survival. BPTF depletion results in a dramatic decrease of cell proliferation.