HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

HIDEA syndrome is caused by biallelic pathogenic variants in P4HTM. The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive and central sleep apneas, intellectual disability, dysautonomia, epilepsy, eye abnormalities, and an increased tendency to develop respiratory distress during pneumonia. Here, we report six new patients with HIDEA syndrome caused by five different biallelic P4HTM variants, including three novel variants. We describe two Finnish enriched pathogenic P4HTM variants and demonstrate that these variants are embedded within founder haplotypes. We review the clinical data from all previously published patients with HIDEA and characterize all reported P4HTM pathogenic variants associated with HIDEA in silico. All known pathogenic variants in P4HTM result in either premature stop codons, an intragenic deletion, or amino acid changes that impact the active site or the overall stability of P4H-TM protein. In all cases, normal P4H-TM enzyme function is expected to be lost or severely decreased. This report expands knowledge of the genotypic and phenotypic spectrum of the disease.publishedVersio

Nanohybrides ZnO-Distrylbithiophènes (synthèse, propriétés structurales et dispositifs électroniques)

La conception de dispositifs électroniques bas coût et flexibles représente un enjeu considérable pour l'électronique du 21è siècle. En combinant à l'échelle nanométrique des matériaux inorganiques et organiques, on peut s'affranchir des conditions dures que nécessite la mise en oeuvre des matériaux inorganiques et recourir plutôt à des procédés de mise en oeuvre en solution [...]The design of flexible electronics devices at low cost is a challenge of particular interest for future electronics. By combining at nanometric scale both organic and inorganic materials, we can avoid the hard conditions needed for inrganic materials and use solution processes [...]AIX-MARSEILLE2-BU Sci.Luminy (130552106) / SudocSudocFranceF

A Self-Assembling NHC-Pd-Loaded Calixarene as a Potent Catalyst for the Suzuki-Miyaura Cross-Coupling Reaction in Water

International audienceNanoformulated calix[8]arenes functionalized with N-heterocyclic carbene (NHC)-palladium complexes were found to be efficient nano-reactors for Suzuki-Miyaura cross-coupling reactions of water soluble iodo- and bromoaryl compounds with cyclic triol arylborates at low temperature in water without any organic co-solvent. Combined with an improved one-step synthesis of triol arylborates from boronic acid, this remarkably efficient new tool provided a variety of 4′-arylated phenylalanines and tyrosines in good yields at low catalyst loading with a wide functional group tolerance

Plasmonic catalysis for the Suzuki–Miyaura cross-coupling reaction using palladium nanoflowers

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Gold(I)-Silver(I)-calix[8]arene complexes, precursors of bimetallic alloyed Au-Ag nanoparticles

International audienceIn this paper, we report the first synthesis and characterisations of bimetallic gold(I)–silver(I) calix[8]arene complexes. We show that the radiolytic reduction of these complexes leads to the formation of small bimetallic nanoparticles with an alloyed structure, as evidenced by XPS, HR-TEM and STEM/HAADF-EDX measurements

Synthesis and NMR study of trimethylphosphine gold(I)-appended calix[8]arenes as precursors of gold nanoparticles

International audienceIn this paper, the synthesis of gold(I)-calix[8]arene complexes from benzyloxycalix[8]arene used as a starting material is reported. 8 or 16 trimethylphosphine-gold(I) are grafted to the calix[8] arene via a C4 alkane chain linker and a thiolate group. The formed gold(I)-complexes are well-characterised by NMR spectroscopy. We also show that these complexes can act as both source of metal and stabilizing agent for the formation a gold nanoparticles as the radiolytic reduction of these complexes produces small monodisperse nanoparticles

Dye-Adsorption-Induced Gelation of Suspensions of Spherical and Rodlike Zinc Oxide Nanoparticles in Organic Solvents

The adsorption of amphiphilic Ru-II complex Z907 onto the surface of ZnO nanospheres and nanorods causes the gelation of organic solvents, such as THF and acetone. The gels are thermally stable at very low concentration (nanoparticle volume fraction phi = 0.009) but. mechanically fragile, with the behavior being dependent on the nature of the solvent, nanoparticle concentration, and the Z907/ZnO mole/weight ratio. Rheological experiments confirmed that the solid component built Lip it network to give a viscoelastic. gel-phase material with a weak value of storage modulus G'. However, TEM and SEM experiments did not give evidence that nanoparticle long-range ordering occurred under the experimental conditions investigated. Moreover, time-dependent SAXS measurements pointed to a decrease in the nanoparticle aggregate size upon gelation. All together, the data obtained might be rationalized in terms of the aggregate-to-aggregate transition in solution, with the primitive large aggregates giving rise to smaller ones upon reaction with Z907. The resulting smaller hybrid aggregates could be the active species that act as self-assembling components in the gelation process. Given the interesting electronic and photonic properties of zinc oxide nanoparticles, such hybrid organic-inorganic gels could open new directions in materials science, low-cost electronics, and photovoltaics

Palladium PEPPSI-IPr Complex Supported on a Calix[8]arene: A New Catalyst for Efficient Suzuki–Miyaura Coupling of Aryl Chlorides

We report here the synthesis and characterization of a new calix[8]arene-supported PEPPSI-IPr Pd polymetallic complex. This complex, showing greater steric hindrance around the Pd centers compared with previous calix[8]arene-based catalysts, demonstrated high reactivity and selectivity for the Suzuki–Miyaura coupling of aryl chlorides under mild conditions. Along with this good performance, the new catalyst showed low Pd leaching into the final Suzuki–Miyaura coupling products, indicative of a heterogeneous-type reactivity. This rare combination of good reactivity towards challenging substrates and low metal leaching offers great promise at both academic and industrial levels