Alu-repeat–induced deletions within the NCF2 gene causing p67- phox –deficient chronic granulomatous disease (CGD)

Mutations that impair expression or function of the components of the phagocyte NADPH oxidase complex cause chronic granulomatous disease (CGD), which is associated with life-threatening infections and dysregulated granulomatous inflammation. In five CGD patients from four consanguineous families of two different ethnic backgrounds, we found similar genomic homozygous deletions of 1,380 bp comprising exon 5 of NCF2 , which could be traced to Alu-mediated recombination events. cDNA sequencing showed in-frame deletions of phase zero exon 5, which encodes one of the tandem repeat motifs in the tetratricopeptide (TPR4) domain of p67- phox . The resulting shortened protein (p67Δ5) had a 10-fold reduced intracellular half-life and was unable to form a functional NADPH oxidase complex. No dominant negative inhibition of oxidase activity by p67Δ5 was observed. We conclude that Alu-induced deletion of the TPR4 domain of p67- phox leads to loss of function and accelerated degradation of the protein, and thus represents a new mechanism causing p67- phox –deficient CGD. Hum Mutat 30:1–8, 2009. © 2009 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/64904/1/21156_ftp.pd

New preparation strategy for nano-composite ceramic membranes

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Potential of MFI zeolite membranes in pervaporation-assisted desalination process

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Robust synthesis of MFI zeolite membranes and prediction of their pervaporation performance for ethanol/water

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Images de science : de nouveaux matériaux pour piéger ou tamiser les molécules,

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About the role of adsorption in inorganic and composite membranes

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Controlled growth of MOFs on various supports from nano to large scale industrial systems

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Membrane design by ALD/MLD for hydrogen sensing

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Preparation and characterization of a ceria-zirconia catalyst for DMC synthesis

International audienceNumber of methods have been reported in the literature for the preparation of dimethyl carbonate (DMC) as an important chemical compounds typically applied in methylation and carbonylation reactions. Recently a particular attention has been paid to the reaction of methanol with carbon dioxide as an alternative to other syntheses involving hazardous and toxic components [1]. In such a reaction system a highly active catalyst is required to make this method competitive in comparison with other types of synthesis routes.In this work we report on the preparation of ceria-zirconia mixed-oxides, which are considered as particularly promising for meeting the requirements leading to performable DMC synthesis. The synthesis strategy is based on the preparation of a supported catalyst starting from polymeric sols/gels (prepared by the Pechini method) which are subsequently deposited/infiltrated uniformly on/in inert porous ceramic support. Before performing the catalyst deposition step unsupported CeO2-ZrO2 powders have prepared and characterized in order to confirm the formation of the required uniform mixed-oxide with both defined composition and textural characteristics. The optimized sol formulations were subsequently used for the impregnation of the porous ceramic supports. During deposition, the sol viscosity was also controlled in order to limit the formation of a surface coating which was shown to suffer from attrition. The as-prepared catalyst has been tested for DMC synthesis in a continuous stirred tank reactor evaluating its catalytic activity as a function of the quantity and specific surface area of the active phase deposited on/in the porous ceramic support. [1] S. T. Hong et al., Synthesis of dimethyl carbonate from methanol and supercritical carbon dioxide, Research on Chemical Intermediates 32 (2006) 737-747

Preparation and characterization of a ceria-zirconia catalyst for DMC synthesis

International audienceNumber of methods have been reported in the literature for the preparation of dimethyl carbonate (DMC) as an important chemical compounds typically applied in methylation and carbonylation reactions. Recently a particular attention has been paid to the reaction of methanol with carbon dioxide as an alternative to other syntheses involving hazardous and toxic components [1]. In such a reaction system a highly active catalyst is required to make this method competitive in comparison with other types of synthesis routes.In this work we report on the preparation of ceria-zirconia mixed-oxides, which are considered as particularly promising for meeting the requirements leading to performable DMC synthesis. The synthesis strategy is based on the preparation of a supported catalyst starting from polymeric sols/gels (prepared by the Pechini method) which are subsequently deposited/infiltrated uniformly on/in inert porous ceramic support. Before performing the catalyst deposition step unsupported CeO2-ZrO2 powders have prepared and characterized in order to confirm the formation of the required uniform mixed-oxide with both defined composition and textural characteristics. The optimized sol formulations were subsequently used for the impregnation of the porous ceramic supports. During deposition, the sol viscosity was also controlled in order to limit the formation of a surface coating which was shown to suffer from attrition. The as-prepared catalyst has been tested for DMC synthesis in a continuous stirred tank reactor evaluating its catalytic activity as a function of the quantity and specific surface area of the active phase deposited on/in the porous ceramic support. [1] S. T. Hong et al., Synthesis of dimethyl carbonate from methanol and supercritical carbon dioxide, Research on Chemical Intermediates 32 (2006) 737-747