Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

<p>Abstract</p> <p>Background</p> <p>Mild hypophosphatasia (HPP) phenotype may result from <it>ALPL </it>gene mutations exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations exhibiting a dominant negative effect. In order to determine the cause of our failure to detect a second mutation by sequencing in patients with mild HPP and carrying on a single heterozygous mutation, we tested the possible dominant effect of 35 mutations carried by these patients.</p> <p>Methods</p> <p>We tested the mutations by site-directed mutagenesis. We also genotyped 8 exonic and intronic <it>ALPL </it>gene polymorphisms in the patients and in a control group in order to detect the possible existence of a recurrent intronic mild mutation.</p> <p>Results</p> <p>We found that most of the tested mutations exhibit a dominant negative effect that may account for the mild HPP phenotype, and that for at least some of the patients, a second mutation in linkage disequilibrium with a particular haplotype could not be ruled out.</p> <p>Conclusion</p> <p>Mild HPP results in part from compound heterozygosity for severe and moderate mutations, but also in a large part from heterozygous mutations with a dominant negative effect.</p

Erratum to: 36th International Symposium on Intensive Care and Emergency Medicine

[This corrects the article DOI: 10.1186/s13054-016-1208-6.]

IMMUNOSENSOR SYSTEMS USING LIPOSOMES AND PLANAR LIPID BILAYER MEMBRANES FOR ION-CHANNEL MODEL SENSORS

For the purpose of constructing a new biosensor which mimics the concept of "ion-channel", two approaches were examined: l)liposome systems, and 2)planar lipid bilayer membrane systems. In both cases, some interaction such as immunoreaction, electrostatruneh dıpole,sand hydrophobic interaction of a stimulus with a model receptor site at the surface of lipid membranes triggers the change in permeation of marker ions across the lipid bilayer membranes. This change in permeation of the marker ions is subsequently monitored electrochemically, which is a direct but much amplified measure of the analyte to be assayed

Architecture of mmWave Edge Cloud in 5G-MiEdge

This paper presents the vision of 5G-MiEdge, a research project leveraging the benefits of merging Multi-access Edge Computing (MEC) and millimeter wave (mmWave) technologies. First the three chosen key enabling technologies, i.e. mmWave edge cloud, liquid control-plane (C-plane), and application-/user-centric orchestration, are presented, then the defined use cases and application scenarios are described. Based on those and on re-using 3GPP and ETSI functional blocks, MEC and mmWave are integrated into a unique high- level network architecture. Finally, as a Proof-of- Concept, numerical results using the novel C-plane for Omotenashi services are presented to show the benefit of the proposed architecture