Association of TRPV5 CASR and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.
Pathophysiologic phosphate concentrations elicit rapid and reversible increases in PTH secretion from freshly-isolated human parathyroid cells consistent with a receptor-mediated action. By sensing moderate changes in extracellular phosphate concentration the CaSR represents a phosphate sensor in the parathyroid gland explaining the stimulatory effect of phosphate on PTH secretion.
Study provides the evidence that serine-875 represents the missing inhibitory PKC phosphorlyation site in CaS that in tandem with threonine-888 controls receptor activity.
Results indicate that calcium-sensing receptor (CaSR) signaling through beta-arrestin and the importance of the Arg(680)-Glu(767) salt bridge in mediating signaling bias.
The identification of the activation of CaSR-mediated protective pathway in renal cells sheds light on a possible cellular protective mechanism against Cd-induced kidney injury.
Decreased sensitivity of the CaSR to calcium due to inactivating polymorphisms at rs1801725 may predispose up to 20% of breast cancer cases to high circulating calcium-associated larger and/or aggressive breast tumors.
CASR SNPs may partly explain differences in the clinical manifestations of CKD-MBD between european and African ancestry populations and in the biochemical response to cinacalcet in many patients.
These findings demonstrate that CaSR-targeted compounds can rectify signaling disturbances caused by germline and somatic Galpha11 mutations which respectively lead to calcium disorders and tumorigenesis; and that ADH2-causing Galpha11 mutations induce non-constitutive alterations in MAPK signaling.
A novel naturally occurring deletion mutation within the CASR that apparently arose de novo in the father of the Autosomal dominant hypocalcemia proband.
There is no association between CASR SNP rs1801725 although an association between altered calcium levels and gastrointestinal motility could not be ruled out.
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