Article
Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl- cotransporter of the distal convoluted tubule.
The Journal of biological chemistry - 30 Oct 1998
Schultheis P J, Lorenz J N, Meneton P, Nieman M L, Riddle T M, Flagella M, Duffy J J, Doetschman T, Miller M L, Shull G E
Abstract excerpt
Mutations in the gene encoding the thiazide-sensitive Na+-Cl- cotransporter (NCC) of the distal convoluted tubule cause Gitelman's syndrome, an inherited hypokalemic alkalosis with hypomagnesemia and hypocalciuria. These metabolic abnormalities are secondary to the deficit in NaCl reabsorption, b...
Topics
- Aldosterone
- Animals
- Bartter Syndrome
- Base Sequence
- Carrier Proteins
- DNA Primers
- Disease Models, Animal
- Kidney Tubules, Distal
- Mice
- Mice, Mutant Strains
- Microscopy, Electron
- Phenotype
- Potassium
- RNA, Messenger
- Renin