Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion.

MEDNIK syndrome is a rare autosomal recessive disease characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, and caused by variants in the adaptor-related protein complex 1 subunit sigma 1 (AP1S1) gene. This gene encodes the σ1A protein, which is a subunit of the adaptor protein complex 1 (AP-1), a key component of the intracellular protein trafficking machinery. Previous work identified three AP1S1 nonsense, frameshift and splice-site variants in MEDNIK patients predicted to encode truncated σ1A proteins, with consequent AP-1 dysfunction.

Improving the explainability of autoencoder factors for commodities through forecast-based Shapley values.

Autoencoders are dimension reduction models in the field of machine learning which can be thought of as a neural network counterpart of principal components analysis (PCA). Due to their flexibility and good performance, autoencoders have been recently used for estimating nonlinear factor models in finance. The main weakness of autoencoders is that the results are less explainable than those obtained with the PCA.

Genetic linkage mapping and quantitative trait locus (QTL) analysis of sweet basil (Ocimum basilicum L.) to identify genomic regions associated with cold tolerance and major volatiles.

Chilling sensitivity is one of the greatest challenges affecting the marketability and profitability of sweet basil (Ocimum basilicum L.) in the US and worldwide. Currently, there are no sweet basils commercially available with significant chilling tolerance and traditional aroma profiles.

For whom the bell tolls. A spatial analysis of the renewable energy transition determinants in Europe in light of the Russia-Ukraine war.

The ongoing invasion of Russia of Ukraine and energy crises have sparked concern about economic and geopolitical stability all over the world. In Europe, the war has destabilized and endangered the energy cooperation and transition between European countries within and outside of the EU. This emergency has shown once more the importance of energy resilience policies to offset the vulnerability of energy systems and energy insecurity at the national and regional levels.

Clustering networked funded European research activities through rank-size laws.

This paper treats a well-established public evaluation problem, which is the analysis of the funded research projects. We specifically deal with the collection of the research actions funded by the European Union over the 7th Framework Programme for Research and Technological Development and Horizon 2020. The reference period is 2007-2020.