Publications by authors named "Serena Ferraiuolo"
Noonan syndrome is a genetic condition characterized by congenital heart defects, short stature, and characteristic facial features. Familial or de novo mutations in PTPN11, RAF1, SOS1, KRAS, and NRAS are responsible for 60-75% of the cases, thus, additional genes are expected to be involved in the pathogenesis. In addition, the genotype-phenotype correlation has been hindered by the highly variable expressivity of the disease.
View Article and Find Full Text PDFArticle Synopsis
- Genomic imprinting is an epigenetic mechanism that influences gene expression based on the parent from whom the gene is inherited, with imprinted genes playing essential roles in growth and development.
- Recent findings indicate that some patients with imprinting disorders exhibit widespread imprinting defects, particularly involving hypomethylation at various maternally methylated imprinting control regions (ICRs).
- A study of 149 Beckwith-Wiedemann syndrome patients identified 17 with hypomethylation at the KCNQ1OT1 ICR, suggesting a possible mosaic origin of these imprinting errors and highlighting the role of trans-acting factors in maintaining imprinting across different loci.
The imprinted expression of the IGF2 and H19 genes is controlled by the Imprinting Centre 1 (IC1) at chromosome 11p15.5. This is a methylation-sensitive chromatin insulator that works by binding the zinc-finger protein CTCF in a parent-specific manner.
View Article and Find Full Text PDF