Via whole-exome sequencing, we identified rare autosomal-recessive variants in UBA5 in
five children from four unrelated families affected with a similar pattern of severe intellectual …

The study of the genetic structure of different countries within Europe has provided significant
insights into their demographic history and population structure. Although France occupies …

European genetic ancestry originates from three main ancestral populations - Western
hunter-gatherers, early European farmers and Yamnaya Eurasian herders - whose edges …

Background: Ferritin is a molecule that plays many roles being the storage for iron, signalling
molecule, and modulator of the immune response. Methods: Different electronic databases …

Alternative splicing (AS) and alternative polyadenylation (APA) generate diverse transcripts
in mammalian genomes during development and differentiation. Epigenetic marks such as …

Recent advances in immunology enabled the characterization of several signal transmitting
pathways responsible for proper cytokine and chemokine signaling. Among them, Janus …

Systemic sclerosis (SSc) is a connective tissue disease that is characterized by widespread
skin and internal organ fibrosis vasculopathy and immune response abnormalities, including …

In modern society, keeping the balance between privacy and public access to information is
becoming a widespread problem more and more often. Valid data is crucial for many kinds …

The study of the genetic structure of different countries within Europe has provided significant
insights into their demographic history and their actual stratification. Although France …

… Aude Saint Pierre, corresponding author # 1 Joanna Giemza, # 2 Isabel Alves, # 2
Matilde Karakachoff, 2 Marinna Gaudin, 2 Philippe Amouyel, 3 Jean-François Dartigues, 4 …