Journal Article10.1016/0092-8674(93)90617-Y
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
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TL;DR: 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.
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About: This article is published in Cell. The article was published on 31 Dec 1993. The article focuses on the topics: Familial hypocalciuric hypercalcemia & Calcium-sensing receptor.
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Citations
Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
M. Andrew Nesbit,Fadil M. Hannan,Sarah A. Howles,Valerie N. Babinsky,Rosie A. Head,Treena Cranston,Nigel Rust,Maurine R. Hobbs,Hunter Heath,Rajesh V. Thakker +9 more
TL;DR: GNA11 mutations predicted disrupted protein structures, and assessment on the basis of in vitro expression showed that familial hypocalciuric hypercalcemia type 2-associated mutations decreased the sensitivity of cells expressing calcium-sensing receptors to changes in extracellular calcium concentrations, whereas autosomal dominant hypocalcemia types 1 and 2- associated mutations increased cell sensitivity.
Molecular determinants of metabotropic glutamate receptor signaling.
TL;DR: This work attempts to offer an integrated view on how homologous and heterologous mechanisms regulate the initial steps of signal propagation, mainly at the level of mglu-receptor-G-protein coupling.
340
Renal magnesium handling: New insights in understanding old problems
TL;DR: Patients with Bartter's and Gitelman's syndromes, diseases of salt transport in the loop and distal tubule, respectively, are associated with disturbances in renal magnesium handling and familial diseases associated with renal magnesium-wasting provide a unique opportunity to study these intrinsic controls.
339
Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome
Rosa Vargas-Poussou,Chunfa Huang,Philippe Hulin,Pascal Houillier,Xavier Jeunemaitre,Michel Paillard,Gabrielle Planelles,Michèle Dechaux,R. Tyler Miller,Corinne Antignac +9 more
TL;DR: It is proposed that the L125P mutation of the CaSR, which represents the most potent gain-of-function mutation reported so far, may reduce NaCl reabsorption in the cTAL sufficiently to result in renal loss of NaCl with secondary hyperaldosteronism and hypokalemia.
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The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Fadil M. Hannan,Fadil M. Hannan,Enikö Kállay,Wenhan Chang,Maria Luisa Brandi,Rajesh V. Thakker +5 more
TL;DR: The Ca2+-sensing receptor (CaSR) is a dimeric family C G protein-coupled receptor that is expressed in calcitropic tissues such as the parathyroid glands and the kidneys and signals via G proteins and β-arrestin, which has a pivotal role in bone and mineral metabolism.
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References
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.
33.7K
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.
26.1K
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
Andrew P. Feinberg
- 01 Jan 1984
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.
22.6K
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.
2.7K
Sequence and expression of a metabotropic glutamate 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.
1.3K
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