The second most commonly mutated gene in primary microcephaly (MCPH) patients is wd40-repeat protein 62 (wdr62), but the relative contribution of WDR62 function to the growth of major brain lineages is unknown. Here, we use Drosophila models to dissect lineage-specific WDR62 function(s). Interestingly, although neural stem cell (neuroblast)-specific depletion of WDR62 significantly decreased ne...

Na+/H+ antiport is a major determinant of intracellular pH (pHi) and also plays an important role in the maintenance of cellular volume. Na+/H+ exchange through NHE-1, the ubiquitous isoform of the antiporter, is accelerated by cytosolic acidification and also by osmotically induced cell shrinking, thereby promoting recovery of the physiological pHi and volume, respectively. Although hydrolysis...

Plasma aldosterone concentration can increase in anephric man during hemodialysis despite the lack of kidneys to produce renin. Because the metabolic clearance rate of aldosterone does not change during hemodialysis, aldosterone secretion must increase in response to sodium depletion, volume depletion, or both. This study was designed to determine the relative influence of sodium and volume dep...

The reabsorption of salt in the distal nephron is predominantly mediated via the thiazide-sensitive sodium chroride cotransporter, NCC (SLC12A3), and the chloride-bicarbonate exchanger pendrin (SLC26A4, PDS), with pendrin working in tandem with the epithelial sodium channel and NCC working by itself. Single deletion of NCC or pendrin in genetically engineered mouse models does not cause salt wa...

Results Mean CVP (8,23 +/3,12 mmHg) was normal, whereas mean GEDI (615,2 +/135,44 mL/m2) was decreased. Thirty-one CVP measurements were elevated despite simultaneous GEDI levels indicating a normal or decreased preload. Sensitivity, specificity, positive predictive value, and negative predictive value of CVP with regard to volume depletion (GEDI < 650) were 6,28 (0-12,77. CI 95%), 100 (97,86-1...

Introduction and Aims: Calcium nephrolithiasis is a complex disease with multiple pathogenetic mechanisms. The role of salt wasting and the subsequent volume depletion in the pathogenesis of hypercalciuria and kidney stone formation remains speculative. The only known monogenic disorder associated with salt wasting/volume depletion, hypercalciuria and nephrolithiasis/ nephrocalcinosis is Bartte...