Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

TL;DR: The secondary hyperparathyroidism of 5/6 nephrectomized rats was characterized by an increase in PTH mRNA levels and PT cell proliferation which were both markedly decreased by a low phosphate diet, and the number of PCNA positive cells was increased by a high phosphate diet.

TL;DR: Functional VDREs have been identified in the CASR gene and provide the mechanism whereby 1,25(OH)2D up-regulates parathyroid, thyroid C-cell, and kidney CASR expression.

TL;DR: The single-stranded conformational polymorphism identification of CaR mutations may help in the distinction of FBH from mild primary hyperparathyroidism which can be clinically difficult.

TL;DR: The current knowledge relevant to understanding the molecular basis of GPCR function is summarized, with primary emphasis on the mechanisms underlying G PCR malfunction responsible for different human diseases.

TL;DR: A technique for conveniently radiolabeling DNA restriction endonuclease fragments to high specific activity is described, and these "oligolabeled" DNA fragments serve as efficient probes in filter hybridization experiments.

TL;DR: In this article, a technique for conveniently radiolabeling DNA restriction endonuclease fragments to high specific activity is described, where DNA fragments are purified from agarose gels directly by ethanol precipitation and are then denatured and labeled with the large fragment of DNA polymerase I, using random oligonucleotides as primers.

TL;DR: The cloning of complementary DNA encoding an extracellular Ca2+ -sensing receptor from bovine parathyroid is reported with pharmacological and functional properties nearly identical to those of the native receptor.

TL;DR: The complementary DNA of a metabotropic glutamate receptor coupled to inositol phosphate/Ca2+ signal transduction has been cloned and characterized and abundant expression of this messenger RNA is observed in neuronal cells in hippocampal dentate gyrus and CA2−3 and in Cerebellar Purkinje cells, suggesting the importance of this receptor in specific hippocampal and cerebellar functions.