Publications by authors named "A Pilotta"
Article Synopsis
- AJAP1 is a protein linked to brain diseases and is found in neurons, specifically in dendrites, where it plays a role in recruiting GABA type B receptors (GBRs) to presynaptic sites.
- Several genetic variants of AJAP1, including the p.(W183C), have been associated with epilepsy and neurodevelopmental disorders, particularly affecting its ability to bind GBRs.
- Mice lacking functional AJAP1 showed decreased levels of presynaptic GBRs, leading to impaired synaptic inhibition and plasticity, highlighting the importance of AJAP1 in regulating neurotransmitter release.
We have established Noonan syndrome (NS)-derived induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) of a family cohort carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation.
View Article and Find Full Text PDFObjectives: During COVID-19 pandemic lockdown, reports of evaluations for suspected precocious puberty significantly raised. We aimed to assess the increase of precocious puberty in patients referred to Pediatric Endocrinology Units of Brescia (Italy), to determine clinical characteristics of patients undergoing a GnRH stimulation test before and during lockdown and evaluate the role of environmental factors in pubertal development.
Methods: Clinical and biochemical data of patients undergoing GnRH stimulation test were collected and stratified in two groups: March 2019 - February 2020 (Period 1) and March 2020 - February 2021 (Period 2).
Article Synopsis
- Sotos syndrome is linked to specific DNA methylation patterns, but distinguishing it from other overgrowth syndromes can be challenging due to variants of unknown significance (VoUS).
- Researchers analyzed DNA methylation in 11 individuals suspected of having Sotos syndrome to assess the pathogenicity of VoUS and found that a specific DNAm signature could confirm or refute diagnoses.
- The study successfully confirmed Sotos syndrome in 8 individuals and excluded it in 3, highlighting the effectiveness of DNA methylation profiling in clarifying diagnostic uncertainties.