Chiara Colombo results 26
· Newest (Page 1/2, per page 25)
Author: Chiara Colombo ×Clear All Filters
Search Results
The italian national genomic strategy: current status, challenges, and future perspectives in clinical practice and public healthNARA Subscribed
This article presents the outcomes of a national initiative aimed at developing a technical document to support the future Italian National Genomic Strategy, carried out from 2021 to 2024 through the collaboration of 14 research institutions. The project was designed to align with major European genomic initiatives, particularly the “1 + Million Genomes” (1 + MG) Declaration and its supporting programs, including Beyond 1 Mill...
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathiesNARA Subscribed
Histone deacetylases (HDACs) are enzymes pivotal for histone modification (i.e. acetylation marks removal), chromatin accessibility and gene expression regulation. Class I HDACs (including HDAC1, 2, 3, 8) are ubiquitously expressed and they often participate in multi-molecular protein complexes. To date, three neurodevelopmental disorders caused by mutations in genes encoding for HDACs ( HDAC4 , HDAC6 and HDAC8 ) and thus belo...
Quantitative Evaluation of the Fracturing State of Crystalline Rocks Using Infrared ThermographyNARA Subscribed
The fracturing state of rocks is a fundamental control on their hydro-mechanical properties. It can be quantified in the laboratory by non-destructive geophysical techniques that are hardly applicable in situ, where biased mapping and statistical sampling strategies are usually exploited. We explore the suitabilty of infrared thermography (IRT) to develop a quantitative, physics-based approach to predict rock fracturing starti...
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severityNARA Subscribed
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the pr...
The comprehension of trabecular bone damage processes could be a crucial hint for understanding how bone damage starts and propagates. Currently, different approaches to bone damage identification could be followed. Clinical approaches start from dual X-ray absorptiometry (DXA) technique that can evaluate bone mineral density (BMD), an indirect indicator of fracture risk. DXA is, in fact, a two-dimensional technology, and BMD...
The hidden interplay between sex and COVID-19 mortality: the role of cardiovascular calcificationNARA Subscribed
Recent clinical and demographical studies on COVID-19 patients have demonstrated that men experience worse outcomes than women. However, in most cases, the data were not stratified according to gender, limiting the understanding of the real impact of gender on outcomes. This study aimed to evaluate the disaggregated in-hospital outcomes and explore the possible interactions between gender and cardiovascular calcifications. Dat...