Publications by authors named "A Busso"
Rett syndrome (RTT) is an early-onset neurological disorder primarily affecting females, leading to severe cognitive and physical disabilities. Recent studies indicate that an imbalance of redox homeostasis and exacerbated inflammatory responses are key players in the clinical manifestations of the disease. Emerging evidence highlights that the p75 neurotrophin receptor (p75NTR) is implicated in the regulation of oxidative stress (OS) and inflammation.
View Article and Find Full Text PDFThe role of central and peripheral vision in the maintenance of upright stance is debated in literature. Stargardt disease causes visual deficits affecting the central field, but leaving unaltered a patient's peripheral vision. Hence, the study of this rare pathology gives the opportunity to selectively investigate the role of central vision in posture.
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- Penile carcinoma (PeCa) is a rare but significant health concern in poorer countries, and there's a lack of data on reliable markers for diagnosis and treatment, prompting researchers to investigate its molecular characteristics.
- They found specific changes in DNA methylation and gene expression in PeCa tissues compared to surrounding non-cancerous tissues, identifying 171 hypermethylated regions and several notably under- and over-expressed genes, including a key panel of 54 genes correlating methylation with expression.
- The study highlights distinct patterns in PeCa linked to HPV presence and tumor grade, revealing potential new pathways in cancer development and suggesting that specific methylation changes could serve as biomarkers, which may improve future diagnosis and treatment options.
Background: Testicular germ cell tumors (TGCTs) account for 1-2% of all tumors in young and middle aged men. A 75-fold increase in TCGT development has been reported for monozygotic (MZ) twins. Therefore, the occurrence of simultaneous tumors in MZ twins emphasizes the importance of genetic factors that influence the risk of developing these tumors.
View Article and Find Full Text PDFCopy number variations (CNVs) have been previously associated with several different neurodevelopmental psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivity disorder (ADHD). The present study consisted of a pilot genome-wide screen for CNVs in a cohort of 16 patients with early-onset obsessive-compulsive disorder (OCD) and 12 mentally healthy individuals, using array-based comparative genomic hybridization (aCGH) on 44K arrays. A small rare paternal inherited microdeletion (∼64 kb) was identified in chromosome 15q13.
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