R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria
Tài liệu tham khảo
Riccardi, 1995, Cloning and functional expression of a rat kidney extracellular calcium/polyvalent cation-sensing receptor, Proc Natl Acad Sci USA, 92, 131, 10.1073/pnas.92.1.131
Brown, 1993, Cloning and characterization of an extracellular Ca-sensing receptor from bovine parathyroid, Nature, 366, 575, 10.1038/366575a0
Tfelt-Hansen, 2004, The calcium-sensing receptor in normal physiology and pathophysiology: a review, Crit Rev Clin Lab Sci, 42, 35, 10.1080/10408360590886606
Ward, 2004, Calcium receptor-mediated intracellular signalling, Cell Calcium, 35, 217, 10.1016/j.ceca.2003.10.017
Kupzig, 2005, The frequencies of calcium oscillations are optimized for efficient calcium-mediated activation of Ras and the ERK/MAPK cascade, Proc Natl Acad Sci USA, 102, 7577, 10.1073/pnas.0409611102
Chen, 2004, Role of the calcium-sensing receptor in parathyroid gland physiology, Am J Physiol Renal Physiol, 286, F1005, 10.1152/ajprenal.00013.2004
Bai, 2004, Calcium-sensing receptor regulation of renal mineral ion transport, Cell Calcium, 35, 229, 10.1016/j.ceca.2003.10.016
Blankenship, 2001, The calcium-sensing receptor regulates calcium absorption in MDCK cells by inhibition of PMCA, Am J Physiol Renal Physiol, 280, F815, 10.1152/ajprenal.2001.280.5.F815
Wang, 1996, Cytocrome P-450 metabolites mediate extracellular Ca-induced inhibition of apical K channels in the TAL, Am J Physiol, 271, C103, 10.1152/ajpcell.1996.271.1.C103
Yamaguchi, 2001, Expression of extracellular calcium-sensing receptor in human osteoblastic MG-63 cell line, Am J Physiol Cell Physiol, 280, C382, 10.1152/ajpcell.2001.280.2.C382
Chattopadhyay, 1998, Identification and localization of extracellular Ca-sensing receptor in rat intestine, Am J Physiol Gastroint Liver Physiol, 274, G122, 10.1152/ajpgi.1998.274.1.G122
Pearce, 1996, A familial syndrome of hypocalcemia with hypercalciuria due to mutation in the calcium-sensing receptor, New Engl J Med, 335, 1115, 10.1056/NEJM199610103351505
Pollak, 1993, Mutation in the human Ca-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, Cell, 75, 1297, 10.1016/0092-8674(93)90617-Y
Cole, 1998, A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations, Lancet, 353, 112, 10.1016/S0140-6736(98)06434-4
Scillitani, 2004, Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor, J Clin Endocrinol Metab, 89, 5634, 10.1210/jc.2004-0129
Vezzoli, 2002, Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients, J Am Soc Nephrol, 13, 2517, 10.1097/01.ASN.0000030077.72157.D2
Corbetta, 2006, The A990G polymorphism of calcium sensing receptor gene (CaSR) is associated with nephrolithiasis in patients with primary hyperparathyroidism (PHPT), Eur J Endocr, 155, 687, 10.1530/eje.1.02286
Yano, 2000, Association of polymorphic alleles of the calcium-sensing receptor gene with parathyroid hormone secretion in hemodialysis patients, Nephron, 85, 317, 10.1159/000045681
Hodgkinson, 1958, The urinary excretion of calcium and inorganic phosphate in 344 patients with calcium stone of renal origin, Br J Surg, 46, 10, 10.1002/bjs.18004619504
Giannini, 2003, Hypercalciuria is a common and important finding in postmenopausal women with osteoporosis, Eur J Endocrinol, 149, 209, 10.1530/eje.0.1490209
Bianchi, 1988, Abnormal red-cell calcium pump in patients with idiopathic hypercalciuria, New Eng J Med, 319, 897, 10.1056/NEJM198810063191402
Coe, 1979, Familial idiopathic hypercalciuria, N Engl J Med, 300, 337, 10.1056/NEJM197902153000703
Pearce, 1996, Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells, J Clin Invest, 98, 1860, 10.1172/JCI118987
Grynkiewicz, 1985, A new generation of Ca2+ indicators with greatly improved fluorescence properties, J Biol Chem, 260, 3440, 10.1016/S0021-9258(19)83641-4
Soldati, 1999, Erythrocyte voltage-dependent calcium influx is reduced in hemodialysis patients, Kidney Int, 56, 190, 10.1046/j.1523-1755.1999.00535.x
Gama, 1997, Ca2+-sensing receptors in intestinal epithelium, Am J Physiol, 42, C1168, 10.1152/ajpcell.1997.273.4.C1168
Ray, 1997, The carboxyl terminus of the human calcium receptor, J Biol Chem, 272, 31355, 10.1074/jbc.272.50.31355
Fan, 1997, N-linked glycosylation of the human Ca receptor is essential for its expression at the cell surface, Endocrinology, 138, 1916, 10.1210/endo.138.5.5131
Jones, 1999, Protein secondary structure prediction based on position-specific scoring matrices, J Mol Biol, 292, 195, 10.1006/jmbi.1999.3091
Tessier, 2001, A family base study of metabolic phenotype in calcium urolithiasis, Kidney Int, 60, 1141, 10.1046/j.1523-1755.2001.0600031141.x
Vargas-Poussou, 2002, Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome, J Am Soc Nephrol, 13, 2259, 10.1097/01.ASN.0000025781.16723.68
Scillitani, 2006, Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor, J Clin Endocrin Metab, 92, 277, 10.1210/jc.2006-0857
Harding, 2006, Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density, Clin Endocrinol, 65, 598, 10.1111/j.1365-2265.2006.02634.x
Levy, 1995, Ambulatory evaluation of nephrolithiasis: an update of a 1980 protocol, Am J Med, 98, 50, 10.1016/S0002-9343(99)80080-1
Vezzoli, 2005, Urinary calcium is a determinant of bone mineral density in elderly men participating in the InCHIANTI study, Kidney Int, 67, 2006, 10.1111/j.1523-1755.2005.00302.x
Smith, 1996, Analysis of main chain torsion angles in proteins: prediction of NMR coupling constants for native and random coil conformations, J Mol Biol, 255, 494, 10.1006/jmbi.1996.0041
Kifor, 1997, The Ca2+-sensing receptor (CaR) activates phospholipases C, A2, and D in bovine parathyroid and CaR-transfected, human embryonic kidney (HEK293) cells, J Bone Miner Res, 12, 715, 10.1359/jbmr.1997.12.5.715
Hjalm, 2001, Filamin-A binds to the carboxyl-terminal tail of the calcium-sensing receptor, an interaction that participates in CaR-mediated activation of mitogen-activated protein kinase, J Biol Chem, 276, 34880, 10.1074/jbc.M100784200
Imig, 2004, 20-HETE or EETs: which arachidonic acid metabolite regulates proximal tubule transporter and contributes to pressure natriuresis, Am J Physiol Integr Comp Physiol, 287, 3, 10.1152/ajpregu.00151.2004
Barret, 2005, Haploview: analysis and visualization of LD and haplotype maps, Bioinformatics, 21, 263, 10.1093/bioinformatics/bth457
Gordon, 2002, Power and sample size calculations for case-control genetic association tests when errors present: application to single nucleotide polymorphisms, Human Heredity, 54, 22, 10.1159/000066696