Rodent ClC-K1 and ClC-K2, and their respective human orthologs ClCKA and ClCKB, are chloride channels specific to the kidney (and inner ear); Barttin is their functionally important subunit. ClC-K1 is ...

Results bear one clear key message: good treatment is important! Patients in whom the acidosis had been properly controlled by adequate treatment had better growth and better kidney function than ...

Normal variations in glomerular filtration induce proportional changes in proximal tubule Na+ reabsorption. This "glomerulotubular balance" derives from flow dependence of Na+ uptake across luminal ...

Mutations of the KCNJ10 (Kir4.1) K⁺ channel underlie autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy (EAST) syndrome. We investigated the ...

We describe two siblings from a consanguineous family with autosomal recessive Fanconi's syndrome and hypophosphatemic rickets. Genetic analysis revealed a homozygous in-frame duplication of 21 bp in ...

Nat Clin Pract Nephrol. 2008;4(1):38-46. Our knowledge of the localization, function, physiology and pathophysiology of the kidney-specific Cl-channels and Barttin has been greatly extended in the ...