Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations
Tóm tắt
Từ khóa
Tài liệu tham khảo
Tfelt-Hansen, 2005, The calcium-sensing receptor in normal physiology and pathophysiology: a review, Critical Reviews in Clinical Laboratory Sciences, 42, 35, 10.1080/10408360590886606
Brown, 1993, Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid, Nature, 366, 575, 10.1038/366575a0
Wellendorph, 2005, Deorphanization of GPRC6A: a promiscuous L-alpha-amino acid receptor with preference for basic amino acids, Molecular Pharmacology, 67, 589, 10.1124/mol.104.007559
Wellendorph, 2004, Molecular cloning, expression, and sequence analysis of GPRC6A, a novel family C G-protein-coupled receptor, Gene, 335, 37, 10.1016/j.gene.2004.03.003
Pi, 2005, Identification of a novel extracellular cation-sensing G-protein-coupled receptor, The Journal of Biological Chemistry, 280, 40201, 10.1074/jbc.M505186200
Hendy, 2000, Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia, Human Mutation, 16, 281, 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A
Su, 2004, A gene atlas of the mouse and human protein-encoding transcriptomes, Proceedings of the National Academy of Sciences of the United States of America, 101, 6062, 10.1073/pnas.0400782101
Brown, 2001, Extracellular calcium sensing and extracellular calcium signaling, Physiological Reviews, 81, 239, 10.1152/physrev.2001.81.1.239
Bringhurst, 1998, Hormones and disorders of mineral metabolism, 1155
Fudge, 2004, Physiological studies in heterozygous calcium sensing receptor (CaSR) gene-ablated mice confirm that the CaSR regulates calcitonin release in vivo, BMC Physiology, 4, 5, 10.1186/1472-6793-4-5
Hebert, 2004, Functions and roles of the extracellular Ca2+-sensing receptor in the gastrointestinal tract, Cell Calcium, 35, 239, 10.1016/j.ceca.2003.10.015
Brown, 1983, Four-parameter model of the sigmoidal relationship between parathyroid hormone release and extracellular calcium concentration in normal and abnormal parathyroid tissue, The Journal of Clinical Endocrinology and Metabolism, 56, 572, 10.1210/jcem-56-3-572
Brown, 1996, Rat calcium-sensing receptor is regulated by vitamin D but not by calcium, American Journal of Physiology, 270, F454
Yarden, 2000, Expression of calcium-sensing receptor gene by avian parathyroid gland in vivo: relationship to plasma calcium, General and Comparative Endocrinology, 117, 173, 10.1006/gcen.1999.7405
Mizobuchi, 2004, Calcimimetic compound upregulates decreased calcium-sensing receptor expression level in parathyroid glands of rats with chronic renal insufficiency, Journal of the American Society of Nephrology, 15, 2579, 10.1097/01.ASN.0000141016.20133.33
Bajwa, 2005, Gene profiling the effects of calcium deficiency versus 1,25-dihydroxyvitamin D induced hypercalcemia in rat kidney cortex, Archives of Biochemistry and Biophysics, 438, 182, 10.1016/j.abb.2005.04.016
Ward, 2002, Renal physiology of the extracellular calcium-sensing receptor, Pflügers Archiv, 445, 169, 10.1007/s00424-002-0914-x
Riccardi, 1996, Localization of the extracellular Ca(2+)-sensing receptor and PTH/PTHrP receptor in rat kidney, American Journal of Physiology, 271, F951
Riccardi, 1998, Localization of the extracellular Ca2+/polyvalent cation-sensing protein in rat kidney, American Journal of Physiology, 274, F611
Ba, 2003, Calcium-sensing receptor regulation of PTH-inhibitable proximal tubule phosphate transport, American Journal of Physiology. Renal Physiology, 285, F1233, 10.1152/ajprenal.00249.2003
Motoyama, 2002, Calcium-sensing receptor regulation of PTH-dependent calcium absorption by mouse cortical ascending limbs, American Journal of Physiology. Renal Physiology, 283, F399, 10.1152/ajprenal.00346.2001
Sands, 1997, Apical extracellular calcium/polyvalent cation-sensing receptor regulates vasopressin-elicited water permeability in rat kidney inner medullary collecting duct, The Journal of Clinical Investigation, 99, 1399, 10.1172/JCI119299
Canaff, 2002, Human calcium-sensing receptor gene. Vitamin D response elements in promoters P1 and P2 confer transcriptional responsiveness to 1,25-dihydroxyvitamin D, The Journal of Biological Chemistry, 277, 30337, 10.1074/jbc.M201804200
Riccardi, 2000, Dietary phosphate and parathyroid hormone alter the expression of the calcium-sensing receptor (CaR) and the Na+-dependent Pi transporter (NaPi-2) in the rat proximal tubule, Pflugers Archiv, 441, 379, 10.1007/s004240000436
Quarles, 1994, Aluminum-induced DNA synthesis in osteoblasts: mediation by a G-protein coupled cation sensing mechanism, Journal of Cellular Biochemistry, 56, 106, 10.1002/jcb.240560115
Chang, 1999, Expression and signal transduction of calcium-sensing receptors in cartilage and bone, Endocrinology, 140, 5883, 10.1210/en.140.12.5883
Chattopadhyay, 2004, Mitogenic action of calcium-sensing receptor on rat calvarial osteoblasts, Endocrinology, 145, 3451, 10.1210/en.2003-1127
Wu, 2004, Effects of Ca2+ sensing receptor activation in the growth plate, FASEB Journal, 18, 143, 10.1096/fj.03-0294fje
Kanatani, 1999, High extracellular calcium inhibits osteoclast-like cell formation by directly acting on the calcium-sensing receptor existing in osteoclast precursor cells, Biochemical and Biophysical Research, 261, 144, 10.1006/bbrc.1999.0932
Yamaguchi, 2000, Enhanced expression of extracellular calcium sensing receptor in monocyte-differentiated versus undifferentiated HL-60 cells: potential role in regulation of a nonselective cation channel, Calcified Tissue International, 66, 375, 10.1007/s002230010076
Lorget, 2000, High extracellular calcium concentrations directly stimulate osteoclast apoptosis, Biochemical and Biophysical Research, 268, 899, 10.1006/bbrc.2000.2229
Shalhoub, 2003, In vitro studies with the calcimimetic, cinacalcet HCl, on normal human adult osteoblastic and osteoclastic cells, Critical Reviews in Eukaryotic Gene Expression, 13, 89, 10.1615/CritRevEukaryotGeneExpr.v13.i24.30
Zaidi, 1999, Emerging insights into the role of calcium ions in osteoclast regulation, Journal of Bone and Mineral Research, 14, 669, 10.1359/jbmr.1999.14.5.669
Garrett, 1995, Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs, The Journal of Biological Chemistry, 270, 12919, 10.1074/jbc.270.21.12919
Ray, 1998, Identification of the sites of N-linked glycosylation on the human calcium receptor and assessment of their role in cell surface expression and signal transduction, The Journal of Biological Chemistry, 273, 34558, 10.1074/jbc.273.51.34558
Bai, 1998, Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of CaR-transfected HEK293 cells, The Journal of Biological Chemistry, 273, 23605, 10.1074/jbc.273.36.23605
Bai, 1996, Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor, The Journal of Biological Chemistry, 271, 19537, 10.1074/jbc.271.32.19537
Sanders, 2000, Extracellular calcium-sensing receptor (CaR) expression and its potential role in parathyroid hormone-related peptide (PTHrP) secretion in the H-500 rat Leydig cell model of humoral hypercalcemia of malignancy, Biochemical and Biophysical Research, 269, 427, 10.1006/bbrc.2000.2157
Hu, 2005, A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+, The Journal of Biological Chemistry, 280, 5113, 10.1074/jbc.M413403200
Nemeth, 1998, Calcimimetics with potent and selective activity on the parathyroid calcium receptor, Proceedings of the National Academy of Sciences of the United States of America, 95, 4040, 10.1073/pnas.95.7.4040
Brown, 1990, A comparison of the effects of divalent and trivalent cations on parathyroid hormone release, 3′,5′-cyclic-adenosine monophosphate accumulation, and the levels of inositol phosphates in bovine parathyroid cells, Endocrinology, 127, 1064, 10.1210/endo-127-3-1064
Ye, 1997, Amyloid-beta proteins activate Ca(2+)-permeable channels through calcium-sensing receptors, Journal of Neuroscience Research, 47, 547, 10.1002/(SICI)1097-4547(19970301)47:5<547::AID-JNR10>3.0.CO;2-V
Conigrave, 2000, L-amino acid sensing by the extracellular Ca2+-sensing receptor, Proceedings of the National Academy of Sciences of the United States of America, 97, 4814, 10.1073/pnas.97.9.4814
Gowen, 2000, Antagonizing the parathyroid calcium receptor stimulates parathyroid hormone secretion and bone formation in osteopenic rats, The Journal of Clinical Investigation, 105, 1595, 10.1172/JCI9038
Heath, 1989, Familial benign hypercalcemia, Trends in Endocrinology and Metabolism, 1, 6, 10.1016/1043-2760(89)90022-2
Auwerx, 1984, Altered parathyroid set point to calcium in familial hypocalciuric hypercalcaemia, Acta Endocrinologica (Copenh), 106, 215, 10.1530/acta.0.1060215
Marx, 1981, The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds, Medicine (Baltimore), 60, 397, 10.1097/00005792-198111000-00002
Attie, 1983, Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism, The Journal of Clinical Investigation, 72, 667, 10.1172/JCI111016
Fuleihan Gel, 2002, Familial benign hypocalciuric hypercalcemia, Journal of Bone and Mineral Research, 17, N51
Marx, 1981, Maximal urine-concentrating ability: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism, The Journal of Clinical Endocrinology and Metabolism, 52, 736, 10.1210/jcem-52-4-736
Warner, 2004, Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications, Journal of Medical Genetics, 41, 155, 10.1136/jmg.2003.016725
Simonds, 2002, Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds, Medicine (Baltimore), 81, 1, 10.1097/00005792-200201000-00001
Carling, 2000, Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor, The Journal of Clinical Endocrinology and Metabolism, 85, 2042, 10.1210/jc.85.5.2042
Burski, 2002, Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality?, The Journal of Clinical Endocrinology and Metabolism, 87, 1015, 10.1210/jc.87.3.1015
Janicic, 1995, Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, American Journal of Human Genetics, 56, 880
D'Souza-Li, 2001, An acceptor splice site mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, Human Mutation, 18, 411, 10.1002/humu.1212
Hauache, 2001, Extracellular calcium-sensing receptor: structural and functional features and association with diseases, Brazilian Journal of Medical and Biological Research, 34, 577, 10.1590/S0100-879X2001000500004
Lloyd, 1999, Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13, American Journal of Human Genetics, 64, 189, 10.1086/302202
Pearce, 1995, Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism, The Journal of Clinical Investigation, 96, 2683, 10.1172/JCI118335
Marx, 1985, Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes, American Journal of Medicine, 78, 15, 10.1016/0002-9343(85)90455-3
Brown, 1997, Familial benign hypocalciuric hypercalcemia and other syndromes of altered responsiveness to extracellular calcium, 479
Grantmyre, 1973, Roentgenographic features of ‘primary’ hyperparathyroidism in infancy, Journal of the Canadian Association of Radiologists, 24, 257
Cole, 1997, Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene, American Journal of Medical Genetics, 71, 202, 10.1002/(SICI)1096-8628(19970808)71:2<202::AID-AJMG16>3.0.CO;2-I
Brown, 2000, Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium, Endocrinology and Metabolism Clinics of North America, 29, 503, 10.1016/S0889-8529(05)70148-1
Eftekhari, 1982, Primary infantile hyperparathyroidism: clinical, laboratory, and radiographic features in 21 cases, Skeletal Radiology, 8, 201, 10.1007/BF00355507
Aida, 1995, Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene, The Journal of Clinical Endocrinology and Metabolism, 80, 2594, 10.1210/jc.80.9.2594
Fukumoto, 2001, Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia, Diagnostic Molecular Pathology, 10, 242, 10.1097/00019606-200112000-00006
Pollak, 1994, Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype, The Journal of Clinical Investigation, 93, 1108, 10.1172/JCI117062
Kobayashi, 1997, Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism, The Journal of Clinical Endocrinology and Metabolism, 82, 2716, 10.1210/jc.82.8.2716
Schwarz, 2000, Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families, Scandinavian Journal of Clinical and Laboratory Investigation, 60, 221, 10.1080/003655100750044875
Pollak, 1994, Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation, Nature Genetics, 8, 303, 10.1038/ng1194-303
Winer, 1998, A randomized, cross-over trial of once-daily versus twice-daily parathyroid hormone 1-34 in treatment of hypoparathyroidism, The Journal of Clinical Endocrinology and Metabolism, 83, 3480, 10.1210/jc.83.10.3480
Lienhardt, 2001, Activating mutations of the calcium-sensing receptor: management of hypocalcemia, The Journal of Clinical Endocrinology and Metabolism, 86, 5313, 10.1210/jc.86.11.5313
Finegold, 1994, Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13, Pediatric Research, 36, 414, 10.1203/00006450-199409000-00024
Lienhardt, 2000, A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia, The Journal of Clinical Endocrinology and Metabolism, 85, 1695, 10.1210/jc.85.4.1695
Pearce, 1996, A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor, The New England Journal of Medicine, 335, 1115, 10.1056/NEJM199610103351505
Baron, 1996, Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism, Human Molecular Genetics, 5, 601, 10.1093/hmg/5.5.601
D'Souza-Li, 2002, Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia, The Journal of Clinical Endocrinology and Metabolism, 87, 1309, 10.1210/jc.87.3.1309
Hirai, 2001, A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia, Journal of Human Genetics, 46, 41, 10.1007/s100380170124
Watanabe, 2002, Association between activating mutations of calcium-sensing receptor and Bartter's syndrome, Lancet, 360, 692, 10.1016/S0140-6736(02)09842-2
Vargas-Poussou, 2002, Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome, Journal of the American Society of Nephrology, 13, 2259, 10.1097/01.ASN.0000025781.16723.68
Vezzoli, 2006, Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome, Journal of Nephrology, 19, 525
Hu, 2004, Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor, Journal of Bone and Mineral Research, 19, 578, 10.1359/JBMR.040106
Bettinelli, 1998, Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis, Journal of Nephrology, 11, 61
Lovlie, 1996, The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism, Human Genetics, 98, 129, 10.1007/s004390050174
Koishi, 1996, Polymorphism of the human Ca(2+)-sensing receptor gene in Japanese individuals: no relation to non-insulin dependent diabetes mellitus, Hormone and Metabolic Research, 28, 541, 10.1055/s-2007-979848
Cetani, 1999, No evidence for mutations in the calcium-sensing receptor gene in sporadic parathyroid adenomas, Journal of Bone and Mineral Research, 14, 878, 10.1359/jbmr.1999.14.6.878
Scillitani, 2004, Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor, The Journal of Clinical Endocrinology and Metabolism, 89, 5634, 10.1210/jc.2004-0129
Cole, 1999, A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations, Lancet, 353, 112, 10.1016/S0140-6736(98)06434-4
Vezzoli, 2002, Influence of the calcium-sensing receptor gene on urinary calium excretion in stone forming patients, Journal of the American Society of Nephrology, 13, 2517, 10.1097/01.ASN.0000030077.72157.D2
Block, 2004, Cinacalcet for secondary hyperparathyroidism in patients receiving hemodialysis, The New England Journal of Medicine, 350, 1516, 10.1056/NEJMoa031633
Nemeth, 1998, Stimulation of parathyroid hormone secretion by a small molecule antagonist of the calcium receptor, Journal of Bone and Mineral Research, 23, S156