Journal ArticleDOI
Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
Martin R. Pollak,Edward M. Brown,Yah-Huei Wu Chou,Steven C. Hebert,Stephen J. Marx,Beat Stelnmann,Tatjana Levi,Christine E. Seidman,Jon G. Seidman +8 more
TLDR
It is demonstrated that mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), two inherited conditions characterized by altered calcium homeostasis.About:
This article is published in Cell.The article was published on 1993-12-31. It has received 997 citations till now. The article focuses on the topics: Familial hypocalciuric hypercalcemia & Calcium-sensing receptor.read more
Citations
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Pharmacology and functions of metabotropic glutamate receptors.
TL;DR: The findings suggest that the mGluRs provide a novel target for development of therepeutic agents that could have a significant impact on neuropharmacology.
Journal ArticleDOI
The metabotropic glutamate receptors: structure and functions.
TL;DR: Recently, glutamate has been shown to regulate ion channels and enzymes producing second messengers via specific receptors coupled to G-proteins, and the existence of these receptors is changing views on the functioning of fast excitatory synapses.
Journal ArticleDOI
Extracellular Calcium Sensing and Extracellular Calcium Signaling
Edward M. Brown,R. John MacLeod +1 more
TL;DR: The cloning of a G protein-coupled extracellular Ca(2+) (Ca(o)(2+))-sensing receptor (CaR) has elucidated the molecular basis for many of the previously recognized effects of Ca( o)(2+) on tissues that maintain systemic Ca(o](2+) homeostasis, especially parathyroid chief cells and several cells in the kidney.
Journal ArticleDOI
A multigene family encoding a diverse array of putative pheromone receptors in mammals.
Hiroaki Matsunami,Linda B. Buck +1 more
TL;DR: A novel multigene family that codes for a diverse array of candidate pheromone receptors (VRs) expressed by the G alpha(o)+ subset is identified, suggesting a distributed mode of sensory coding.
Journal ArticleDOI
Evolution, structure, and activation mechanism of family 3/C G-protein-coupled receptors.
TL;DR: The recent resolution of the structure of this binding domain in one of these receptors, the metabotropic glutamate 1 receptor, revealed a unique mechanism of activation for these GPCRs, which open new possibilities in the development of drugs aimed at modulating these receptors.
References
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Detection of specific sequences among DNA fragments separated by gel electrophoresis.
TL;DR: This paper describes a method of transferring fragments of DNA from agarose gels to cellulose nitrate filters that can be hybridized to radioactive RNA and hybrids detected by radioautography or fluorography.
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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
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.
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
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.
Journal ArticleDOI
Cloning and characterization of an extracellular Ca 2+ -sensing receptor from bovine parathyroid
Edward M. Brown,Gerardo Gamba,Daniela Riccardi,Michael Lombardi,Robert Butters,Olga Kifor,Adam Sun,Adam Sun,Matthias A. Hediger,Jonathan Lytton,Steven C. Hebert +10 more
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.
Book
Analysis of Human Genetic Linkage
TL;DR: The first and still the only book of its kind, this volume offers a concise introduction to human genetic linkage analysis and gene mapping as discussed by the authors, as well as practical comments on available computer programs and websites.