112 research outputs found
Rare variants in BNC2 are implicated in autosomal-dominant congenital lower urinary-tract obstruction
Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding. About three out of 10,000 pregnancies are affected. Although several monogenic causes of functional obstruction have been defined, it is unknown whether congenital LUTO caused by anatomical blockage has a monogenic cause. Exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853(∗)]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage
Extraction of carboxylic acids from aqueous solutions with the extractant system alcohol/Tri-n-alkylamines
Kontinuierliches Verfahren zur Aufkonzentrierung von verdünnten wäßrigen Hydroxycarbonsäure-Lösungen
Studies on rye starch properties and modification. Part I: Composition and properties of rye starch granules
Reversible oxidation of WOx and MoOx nano phases
International audienceWOx and MoOx nano phases were prepared on TiO2(1 1 0) surfaces by a CVD procedure consisting of adsorption and decomposition of W(CO)(6) or Mo(CO)(6) precursors followed by annealing under UHV. Metal amount involved in each elaborated sample is in the fractional range from 0.1 to 0.35 equivalent monolayer (eqML) of W or Mo. Evolution of sample stoichiometry as a function of subsequent treatment is followed by valence band and core level photoemission as well as work function measurement. In each case, exposure of samples to molecular oxygen at room temperature induces an increase of sample work function in a range of several tenth of eV. Such a work function change is related to oxidation of sample involving both titanium and tungsten (or molybdenum) ions. Such an oxidation is reversible through an annealing under UHV at 470 K for molybdenum oxide and 670 K for tungsten oxide. Several cycles of exposure/annealing are possible without changes in work function or stoichiometry. (C) 2011 Elsevier B.V. All rights reserved
Spectroscopic Understanding of SnO2 and WO3 Metal Oxide Surfaces with Advanced Synchrotron Based; XPS UPS and Near Ambient Pressure NAP XPS Surface Sensitive Techniques for Gas Sensor Applications under Operational Conditions
Invasive Untersuchungen nach Kreislauf-trennender Operation bei funktionell univentrikulärem Herzen
Invasive Untersuchungen nach Kreislauf-trennender Operation bei funktionell univentrikulärem Herzen
- …