Publications by authors named "S P Pellegrini"
Article Synopsis
- Recent genome-wide association studies (GWASs) have discovered various single nucleotide polymorphisms (SNPs) that individually have a minimal impact on melanoma risk, but when combined, they can significantly improve predictions through a polygenic risk score (PRS).
- Researchers genotyped 270 melanoma patients who had negative genetic tests for high/medium-penetrance genes to develop a PRS model based on 57 SNPs, revealing a substantially higher average PRS in melanoma cases compared to controls.
- The study found that the mean PRS was notably higher for patients with multiple primary melanoma compared to those with a single case, indicating that the PRS could help identify high-risk individuals for more intensive monitoring.
Wolfram Syndrome (WFS) is a rare, multisystemic, degenerative disease leading to premature death. Clinical and genetic heterogeneity makes WFS diagnosis and management challenging. The Italian Society of Diabetes (SID) and the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) convened an expert panel of professional healthcare practitioners to provide up-to-date knowledge about the pathophysiology, clinical presentation and treatment of WFS, and recommendations for the earlydetection and optimal disease management.
View Article and Find Full Text PDFAims/hypothesis: Wolfram syndrome 1 (WS1) is an inherited condition mainly manifesting in childhood-onset diabetes mellitus and progressive optic nerve atrophy. The causative gene, WFS1, encodes wolframin, a master regulator of several cellular responses, and the gene's mutations associate with clinical variability. Indeed, nonsense/frameshift variants correlate with more severe symptoms than missense/in-frame variants.
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- * A study examined 131 female patients with X-linked dominant incontinentia pigmenti (IP), finding that 36% produced autoantibodies against IFN-α and/or IFN-ω, significantly higher than age-matched controls.
- * The presence of these autoantibodies is linked to an abnormally small thymus and predisposes patients to life-threatening viral infections, while those without these autoantibodies do not face the same risk.
Insulinomas are rare neuroendocrine tumors arising from pancreatic β cells, characterized by aberrant proliferation and altered insulin secretion, leading to glucose homeostasis failure. With the aim of uncovering the role of noncoding regulatory regions and their aberrations in the development of these tumors, we coupled epigenetic and transcriptome profiling with whole-genome sequencing. As a result, we unraveled somatic mutations associated with changes in regulatory functions.
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