29 research outputs found

    Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview

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    The human α7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) is widely expressed in the central and peripheral nervous systems. This receptor is implicated in both brain development and adult neurogenesis thanks to its ability to mediate acetylcholine stimulus (Ach). Copy number variations (CNVs) of CHRNA7 gene have been identified in humans and are genetically linked to cognitive impairments associated with multiple disorders, including schizophrenia, bipolar disorder, epilepsy, Alzheimer’s disease, and others. Currently, α7 receptor analysis has been commonly performed in animal models due to the impossibility of direct investigation of the living human brain. But the use of model systems has shown that there are very large differences between humans and mice when researchers must study the CNVs and, in particular, the CNV of chromosome 15q13.3 where the CHRNA7 gene is present. In fact, human beings present genomic alterations as well as the presence of genes of recent origin that are not present in other model systems as well as they show a very heterogeneous symptomatology that is associated with both their genetic background and the environment where they live. To date, the induced pluripotent stem cells, obtained from patients carrying CNV in CHRNA7 gene, are a good in vitro model for studying the association of the α7 receptor to human diseases. In this review, we will outline the current state of hiPSCs technology applications in neurological diseases caused by CNVs in CHRNA7 gene. Furthermore, we will discuss some weaknesses that emerge from the overall analysis of the published articles

    Azimuthal correlations of high transverse momentum jets at next-to-leading order in the parton branching method

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    AbstractThe azimuthal correlation, Δϕ12\Delta \phi _{12} Δ ϕ 12 , of high transverse momentum jets in pp collisions at s=13\sqrt{s}=13 s = 13  TeV is studied by applying PB-TMD distributions to NLO calculations via MCatNLO together with the PB-TMD parton shower. A very good description of the cross section as a function of Δϕ12\Delta \phi _{12} Δ ϕ 12 is observed. In the back-to-back region of Δϕ12→π{\Delta \phi _{12}}\rightarrow \pi Δ ϕ 12 → π , a very good agreement is observed with the PB-TMD Set 2 distributions while significant deviations are obtained with the PB-TMD Set 1 distributions. Set 1 uses the evolution scale while Set 2 uses transverse momentum as an argument in αs\alpha _\mathrm {s} α s , and the above observation therefore confirms the importance of an appropriate soft-gluon coupling in angular ordered parton evolution. The total uncertainties of the predictions are dominated by the scale uncertainties of the matrix element, while the uncertainties coming from the PB-TMDs and the corresponding PB-TMD shower are very small. The Δϕ12\Delta \phi _{12} Δ ϕ 12 measurements are also compared with predictions using MCatNLO together Pythia8, illustrating the importance of details of the parton shower evolution.</jats:p

    Tra Public e Digital History: la soluzione ibrida dei registri parrocchiali di Monterosso on line

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    I registri parrocchiali rappresentano la prima forma nota di registro anagrafico in Europa e, come tali, vanno a costituire un patrimonio di grande importanza per lo studio delle comunità di età moderna e contemporanea dal punto di vista storico, demografico e genealogico. I registri, infatti, sono libri manoscritti – o misti con parte di testo a stampa – che raccolgono i dati relativi a battesimi, matrimoni e funerali officiati in una parrocchia. I registri parrocchiali di Monterosso al Mare (La Spezia) – battesimo, matrimonio e morte – vanno dal 1580 fino agli anni ‘80 del XX secolo, e sono stati fotografati e trascritti da un cittadino della comunità di Monterosso. Il signor Gustavo Moggia ha quindi reso disponibile un totale di circa 35.000 immagini (in cui sono comprese quelle con i singoli atti e quelle con recto e verso delle pagine dei registri) e circa 30.000 trascrizioni testuali. In questo articolo presentiamo la piattaforma web sviluppata per mettere questi dati a disposizione della comunità di Monterosso e di tutti gli studiosi, e una prima loro analisi
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