Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population

: Despite the technological advancements in modern genetic diagnosis, customized genetic panels are still frequently employed for diagnostic purposes due to their rapid, efficient, and cost-effective ability to detect genetic variants. In this study, we utilized a customized genetic panel designed to identify genetic variants associated with neurodegenerative disorders. The panel consisted of 61 genes and was applied to a cohort of 186 unrelated individuals diagnosed with different degenerati...

Stress-Inducible Transcription Factor NUPR1 Is Involved in the Inhibitory Effects Exerted by Statins on Insulin Action in ER-Positive Breast Cancer Cells

Obesity is frequently associated with metabolic alterations like hypercholesterolemia and hyperinsulinemia and represents a major risk factor for several diseases, including breast cancer (BC). Insulin signaling, as well as the frequent overexpression of the insulin receptor (IR), play a key role in BC progression. Emerging evidence suggests that the widely prescribed lipid-lowering drugs, named statins, may reduce the risk of recurrence and blunt BC cell proliferation, mainly inhibiting the ...

Formula Production and its Relation to General Language Ability in Mandarin-Speaking Autistic Children

This study explores the production of Mandarin prefabricated verbal formulae (i.e., a multiword or single-word linguistic expression that is stored and retrieved holistically as a unit from memory, rather than being generated through real-time rule-based composition) in autistic children (i.e., children with Autism Spectrum Disorder, ASD). Examples of such entrenchments are ritualized socio-cultural emblems (e.g., “Happy birthday!”) and socio-communicative formulae (e.g., “Nice to meet you”)....

Storytelling in Motion: Effects of a Narrative-Based Outdoor Motor Intervention on Motor Competence and Inhibitory Control in Preschool Children—A Quasi-Experimental Study