Broad-spectrum genetic tests often lead to the identification of variants of uncertain significance (VUS), a major issue in modern clinical genetics. A fair proportion of VUS may alter the splicing processes, but their interpretation is challenging. This study aimed at providing a classification approach for VUS potentially-affecting splicing by integrating transcript analysis from peripheral blood mRNA into routine diagnostics.
View Article and Find Full Text PDFIn many developing countries, human health problems are solved using local plants. Knowledge of their chemical composition and biological activities can contribute to the creation of natural-based products usefully employed in human health. In this work, we analysed leaves extracted with diverse eco-compatible procedures and subjected to chemical, microbiological, and cellular compatibility assays.
View Article and Find Full Text PDFPurpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.
Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.
In this work, we present a multiscale real-time approach to study the plasmonic effects of a metal nanoparticle (NP) on the electronic circular-dichroism (ECD) spectrum of a chiral molecule interacting with it. The method is based on the time-evolution of the molecule's time-dependent wavefunction, expanded in the eigenstates of a perturbed Hamiltonian. A quantum description of the molecular system is coupled to a classical representation of the NP via a continuum model.
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