Purpose: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, musculoskeletal, and cutaneous anomalies caused by heterozygous loss-of-function variants in TAB2. Methods: Affected individuals were analyzed by next-generation technologies and genomic array. The presumed loss-of-function effect of identified variants was assessed by luciferase assay in cells transiently expressing TAB2 deleterious alleles. In available patients' fibroblasts, variant pathogenicity was further explored by immunoblot and osteoblast differentiation assays.

The Smoothed Particle Hydrodynamics (SPH) method, often used for the modelling of the Navier- Stokes equations by a meshless Lagrangian approach, is revisited from the point of view of Large Eddy Simulation (LES). To this aim, the LES filtering procedure is recast in a Lagrangian framework by defining a filter that moves with the positions of the fluid particles at the filtered velocity.

FORUM (Far-infrared Outgoing Radiation Understanding and Monitoring) will flight as the 9th ESA's Earth Explorer mission, and an End-to-End Simulator (E2ES) has been developed as a support tool for the mission selection process and the subsequent development phases. The current status of the FORUM E2ES project is presented, together with the characterization of the capabilities of a full physics retrieval code applied to FORUM data.

?1-Antitrypsin (AAT) deficiency is a common genetic disease presenting with lung and liver diseases. AAT deficiency results from pathogenic variants in the SERPINA1 gene encoding AAT and the common mutant Z allele of SERPINA1 encodes for Z ?1-antitrypsin (ATZ), a protein forming hepatotoxic polymers retained in the endoplasmic reticulum of hepatocytes. PiZ mice express the human ATZ and are a valuable model to investigate the human liver disease of AAT deficiency.

Identifying relevant genomic features that can act as prognostic markers for building predictive survival models is one of the central themes in medical research, affecting the future of personalized medicine and omics technologies. However, the high dimension of genome-wide omic data, the strong correlation among the features, and the low sample size significantly increase the complexity of cancer survival analysis, demanding the development of specific statistical methods and software.

If I? R is a bounded interval, we prove the boundedness of Calderón singular operator and of Hardy-Littlewood Maximal operator in the generalized weighted Grand Lebesgue spaces Lpp),?(I), 1 < p< ?.

Mortality models play a basic role in the evaluation of longevity risk by demographers and actuaries. Their performance strongly depends on the different patterns shown by mortality data in different countries. A comprehensive quantitative comparison of the most used methods for forecasting mortality is presented, aimed at evaluating both the goodness of fit and the forecasting performance of these mortality models on Italian demographic data.

FORUM (Far-infrared Outgoing Radiation Understanding and Monitoring) will flight as the 9th ESA's Earth Explorer mission, and an End-to-End Simulator (E2ES) has been developed as a support tool for the mission selection process and the subsequent development phases. The current status of the FORUM E2ES project is presented, together with the characterization of the capabilities of a full physics retrieval code applied to FORUM data.