Genotype and phenotype correlation of calcium-sensing receptor variants.
Mutations of the calcium-sensing receptor (CaR) gene give rise to disorders of renal calcium excretion. It is now demonstrated that even common variants of CaR can cause alteration in tissue sensitivity to extracellular calcium and are associated with primary hypercalciuria. Agents targeting these functional domains may well be an option for the management of hypercalciuria and renal stones.
Kung
A W C
AW
Department of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong. awckung@hkucc.hku.hk
D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D053565:Hypercalciuria / Q000235:genetics; D007669:Kidney Calculi / Q000628:therapy; D008957:Models, Genetic; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
D044169:Receptors, Calcium-Sensing