Article
Partial human genetic deficiency in tissue kallikrein activity and renal calcium handling.
Clinical journal of the American Society of Nephrology : CJASN - 1 Mar 2007
Blanchard Anne, Azizi Michel, Peyrard Séverine, Stern Nora, Alhenc-Gelas François, Houillier Pascal, Jeunemaitre Xavier
Abstract excerpt
A loss-of-function polymorphism of the human tissue kallikrein (TK) gene (R53H) induces a major decrease in enzyme activity. Inactivation of the TK gene in mice causes a defect in tubular calcium (Ca) reabsorption. Therefore, this study investigated the Ca phenotype of carriers of the 53H allele. In a crossover study, 30 R53R homozygous and 10 R53H heterozygous young white male individuals were randomly assigned...
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