A5032065900- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Renal and related cancers
- RNA modifications and cancer
- Kruppel-like factors research
- Prenatal Screening and Diagnostics
Children's Hospital of Philadelphia
2019-2023
The use of assisted reproductive technologies (ART) can induce a congenital overgrowth condition in humans and ruminants, namely Beckwith-Wiedemann syndrome (BWS) large offspring (LOS), respectively. Shared phenotypes epigenotypes have been found between BWS LOS. We observed global misregulation transcripts bovine foetuses with microRNAs (miRNAs) are important post-transcriptional gene expression regulators. hypothesize that there is miRNA LOS this shared BWS. In study, small RNA sequencing...
Abstract Beckwith‐Wiedemann Syndrome (BWS) is the most common human overgrowth disorder caused by structural and epigenetic changes to chromosome 11p15. Patients with BWS are predisposed developing hepatoblastoma (HB). To better understand mechanism of HB oncogenesis in this cancer predisposition background, we performed first multi‐dimensional study samples collected from patients diagnosed BWS. This multi‐omic investigation seven five matched nontumor liver 7 unique included examination...
DNA methylation, chromatin-binding proteins, and looping are common components regulating genomic imprinting which leads to parent-specific monoallelic gene expression. Loss of methylation (LOM) at the human center 2 (IC2) on chromosome 11p15 is most cause overgrowth disorder Beckwith-Wiedemann Syndrome (BWS). Here, we report a familial transmission 7.6 kB deletion that ablates core promoter KCNQ1. This structural alteration IC2 LOM causes recurrent BWS. We find occupancy chromatin organizer...
Abstract Background Wilms tumor (WT) exhibits structural and epigenetic changes at chromosome 11p15, which also cause Beckwith-Wiedemann Syndrome (BWS). Children diagnosed with BWS have increased risk for WT. The aim of this study is to identify the molecular signaling signatures in driving these tumors. Methods We performed whole exome sequencing, methylation array analysis, gene expression analysis on BWS-WT samples. Our data were compared publicly available nonBWS data. categorized WT...
Abstract Wilms Tumor (WT), or nephroblastoma, is the most common pediatric renal cancer. This cancer thought to arise from expansion of embryonal nephrogenic rest cell population. The (epi)genetic alterations in WT occur on chromosome 11p15, accounting for about 75% WT. These same changes 11p15 also cause one predisposition syndromes, Beckwith-Wiedemann Syndrome (BWS). BWS a overgrowth disorder affecting numerous tissues including kidney and up 28% patients with develop As have epigenetic...