Heterozygous variant as a novel genetic cause of telomere biology disorders.

Premature telomere shortening or telomere instability is associated with a group of rare and heterogeneous diseases collectively known as telomere biology disorders (TBDs). Here we identified two unrelated individuals with clinical manifestations of TBDs and short telomeres associated with the identical monoallelic variant c.767A>G; Y256C in Although the replication protein A2 (RPA2) mutant did not affect ssDNA binding and G-quadruplex-unfolding properties of RPA, the mutation reduced the affinity of RPA2 with the ubiquitin ligase RFWD3 and reduced RPA ubiquitination.

Design of an artificial phage-display library based on a new scaffold improved for average stability of the randomized proteins.

Scaffold-based protein libraries are designed to be both diverse and rich in functional/folded proteins. However, introducing an extended diversity while preserving stability of the initial scaffold remains a challenge. Here we developed an original approach to select the ensemble of folded proteins from an initial library.

The contribution of agent-based simulations to conservation management on a Natura 2000 site.

The conservation of biodiversity today must include the participation and support of local stakeholders. Natura 2000 can be considered as a conservation system that, in its application in most EU countries, relies on the participation of local stakeholders. Our study proposes a scientific method for participatory modelling, with the aim of contributing to the conservation management of habitats and species at a Natura 2000 site (Crozon Peninsula, Bretagne, France) that is representative of in landuse changes in coastal areas.

Impact of osteopathic treatment on pain in adult patients with cystic fibrosis--a pilot randomized controlled study.

Background: Pain is a common complication in patients with cystic fibrosis (CF) and is associated with shorter survival. We evaluated the impact of osteopathic manipulative treatment (OMT) on pain in adults with CF.

Methods: A pilot multicenter randomized controlled trial was conducted with three parallel arms: OMT (group A, 16 patients), sham OMT (sham treatment, group B, 8 patients) and no treatment (group C, 8 patients).