메뉴 건너뛰기




Volumn 81, Issue 6, 1996, Pages 2030-2035

The genetic basis of endocrine disease: Disorders of calcium ion sensing

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CALCIUM ABSORPTION; CALCIUM HOMEOSTASIS; CELL FUNCTION; ENDOCRINE DISEASE; EXTRACELLULAR CALCIUM; GENE DOSAGE; GENETICS; HYPERCALCEMIA; MOLECULAR CLONING; NONHUMAN; OSTEOCLAST; PRIORITY JOURNAL; REVIEW; AMINO ACID SEQUENCE; ANIMAL; EXTRACELLULAR SPACE; HOMEOSTASIS; HUMAN; ISOLATION AND PURIFICATION; METABOLISM; MOLECULAR GENETICS; MUTATION; PARATHYROID GLAND; URINE;

EID: 0030160123     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.6.2030     Document Type: Review
Times cited : (45)

References (50)
  • 1
    • 0025922923 scopus 로고
    • 2+ and other ions as extracellular (first) messengers
    • 2+ and other ions as extracellular (first) messengers. Physiol Rev. 71:371-411.
    • (1991) Physiol Rev. , vol.71 , pp. 371-411
    • Brown, E.M.1
  • 2
  • 3
    • 0027787680 scopus 로고
    • 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
    • 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 75:1297-1303.
    • (1993) Cell , vol.75 , pp. 1297-1303
    • Pollak, M.R.1    Brown, E.M.2    Chou, Y.W.H.3
  • 5
    • 0026344131 scopus 로고
    • A G protein linked receptor for parathyroid hormone and parathyroid hormone related peptide
    • Jüppner H, Abou Samra AB, Freeman M, et al. 1991 A G protein linked receptor for parathyroid hormone and parathyroid hormone related peptide. Science. 254:1024-1026.
    • (1991) Science , vol.254 , pp. 1024-1026
    • Jüppner, H.1    Abou Samra, A.B.2    Freeman, M.3
  • 6
    • 0005374834 scopus 로고
    • Cloning and expression of full-length cDNA encoding human vitamin D receptor
    • Baker AR, McDonnell DP, Hughes M, et al. 1988 Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc Natl Acad Sci USA. 85:3294-3298.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 3294-3298
    • Baker, A.R.1    McDonnell, D.P.2    Hughes, M.3
  • 7
    • 0017261993 scopus 로고
    • Relative effectiveness of magnesium and calcium on the secretion and biosynthesis of parathyroid hormone in vitro
    • Habener JF, Potts Jr JT. 1976 Relative effectiveness of magnesium and calcium on the secretion and biosynthesis of parathyroid hormone in vitro. Endocrinology. 98:197-202.
    • (1976) Endocrinology , vol.98 , pp. 197-202
    • Habener, J.F.1    Potts Jr., J.T.2
  • 9
    • 0023748615 scopus 로고
    • High calcium and other divalent cations increase inositol trisphosphate in bovine parathyroid cells
    • Shoback DM, Membreno LA, McGhee J. 1988 High calcium and other divalent cations increase inositol trisphosphate in bovine parathyroid cells. Endocrinology. 123:382-389.
    • (1988) Endocrinology , vol.123 , pp. 382-389
    • Shoback, D.M.1    Membreno, L.A.2    McGhee, J.3
  • 10
    • 0022558902 scopus 로고
    • 2+ and the regulation of secretion in parathyroid cells
    • 2+ and the regulation of secretion in parathyroid cells. FEBS Lett. 210:15-19.
    • (1986) FEBS Lett. , vol.210 , pp. 15-19
    • Nemeth, E.F.1    Scarpa, A.2
  • 11
    • 0025003897 scopus 로고
    • A comparison of the effect 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
    • Brown EM, Fuleihan GEH, Chen CJ, Kifor O. 1990 A comparison of the effect 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. 127:1064-1070.
    • (1990) Endocrinology , vol.127 , pp. 1064-1070
    • Brown, E.M.1    Fuleihan, G.E.H.2    Chen, C.J.3    Kifor, O.4
  • 12
    • 0004964026 scopus 로고
    • Functional expression of the parathyroid calcium receptor in Xenopus oocytes
    • Abstr.
    • Racke FK, Dubyak GR, Nemeth EF. 1991 Functional expression of the parathyroid calcium receptor in Xenopus oocytes. J Bone Miner Res. 6:S188 (Abstr).
    • (1991) J Bone Miner Res. , vol.6
    • Racke, F.K.1    Dubyak, G.R.2    Nemeth, E.F.3
  • 13
    • 0004921436 scopus 로고
    • + RNA from bovine parathyroid tissue into Xenopus oocytes confers sensitivity to extracellular calcium
    • Abstr.
    • + RNA from bovine parathyroid tissue into Xenopus oocytes confers sensitivity to extracellular calcium. J Bone Miner Res. 6:S135 (Abstr).
    • (1991) J Bone Miner Res. , vol.6
    • Shoback, D.M.1    Chen, T.-H.2
  • 14
    • 0028924833 scopus 로고
    • Cloning and functional expression of a rat kidney extracellular calcium-sensing receptor
    • Riccardi D, Park J, Lee WS, et al. 1995 Cloning and functional expression of a rat kidney extracellular calcium-sensing receptor. Proc Natl Acad Sci USA. 92:131-135.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 131-135
    • Riccardi, D.1    Park, J.2    Lee, W.S.3
  • 15
    • 0028955536 scopus 로고
    • Calcium sensing receptor: Molecular cloning in rat and localization to nerve terminals
    • Ruat M, Molliver ME, Snowman AM, Snyder SH. 1995 Calcium sensing receptor: molecular cloning in rat and localization to nerve terminals. Proc Natl Acad Sci USA. 92:3161-3165.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 3161-3165
    • Ruat, M.1    Molliver, M.E.2    Snowman, A.M.3    Snyder, S.H.4
  • 16
    • 0029055771 scopus 로고
    • Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs
    • Garrett JE, Capuano IV, Hammerland LG, et al. 1995 Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem. 270:12919-12925.
    • (1995) J Biol Chem. , vol.270 , pp. 12919-12925
    • Garrett, J.E.1    Capuano, I.V.2    Hammerland, L.G.3
  • 18
    • 0019788427 scopus 로고
    • The hypocalciuric or benign variant of familial hypercalcaemia. Clinical and biochemical features of fifteen families
    • Baltimore
    • Marx SJ, Attie MF, Levine MA, et al. 1981 The hypocalciuric or benign variant of familial hypercalcaemia. Clinical and biochemical features of fifteen families. Medicine (Baltimore). 60:397-412.
    • (1981) Medicine , vol.60 , pp. 397-412
    • Marx, S.J.1    Attie, M.F.2    Levine, M.A.3
  • 19
    • 0019449529 scopus 로고
    • Familial benign hypercalcaemia
    • Paterson CR, Gunn A. 1981 Familial benign hypercalcaemia. Lancet. 2:61-63.
    • (1981) Lancet , vol.2 , pp. 61-63
    • Paterson, C.R.1    Gunn, A.2
  • 20
    • 0021910184 scopus 로고
    • Familial benign hypercalcaemia (hypocalciuric hypercalcaemia). Clinical and pathogenetic study of 21 families
    • Law WM, Heath H. 1985 Familial benign hypercalcaemia (hypocalciuric hypercalcaemia). Clinical and pathogenetic study of 21 families. Ann Intern Med. 102:511-519.
    • (1985) Ann Intern Med. , vol.102 , pp. 511-519
    • Law, W.M.1    Heath, H.2
  • 21
    • 0026732656 scopus 로고
    • Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia
    • McMurtry CT, Schranck FW, Walkenhorst DA, et al. 1992 Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia. Am J Med. 93:247-258.
    • (1992) Am J Med. , vol.93 , pp. 247-258
    • McMurtry, C.T.1    Schranck, F.W.2    Walkenhorst, D.A.3
  • 22
    • 0018256337 scopus 로고
    • Circulating parathyroid hormone activity: Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism
    • Marx SJ, Speigel AM, Brown EM, et al. 1978 Circulating parathyroid hormone activity: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. J Clin Endocrinol Metab. 47:1190-1197.
    • (1978) J Clin Endocrinol Metab. , vol.47 , pp. 1190-1197
    • Marx, S.J.1    Speigel, A.M.2    Brown, E.M.3
  • 23
    • 0027522832 scopus 로고
    • Calcium infusion suggests a "set-point" abnormality of parathyroid gland function in familial benign hypercalcemia and more complex disturbances in primary hyperparathyroidism
    • Khosla S, Ebeling PR, Firek AF, Burritt MM, Kao PC, Heath III H. 1993 Calcium infusion suggests a "set-point" abnormality of parathyroid gland function in familial benign hypercalcemia and more complex disturbances in primary hyperparathyroidism. J Clin Endocrinol Metab. 76:715-720.
    • (1993) J Clin Endocrinol Metab. , vol.76 , pp. 715-720
    • Khosla, S.1    Ebeling, P.R.2    Firek, A.F.3    Burritt, M.M.4    Kao, P.C.5    Heath III, H.6
  • 24
    • 0020516783 scopus 로고
    • Urinary calcium excretion in familial hypocalciuric hypercalcemia: Persistence of relative hypocalciuria after induction of hypoparathyroidism
    • Attie MF, Gill JR, Stock JL, et al. 1983 Urinary calcium excretion in familial hypocalciuric hypercalcemia: persistence of relative hypocalciuria after induction of hypoparathyroidism. J Clin Invest. 72:667-676.
    • (1983) J Clin Invest. , vol.72 , pp. 667-676
    • Attie, M.F.1    Gill, J.R.2    Stock, J.L.3
  • 25
    • 0021203491 scopus 로고
    • Familial hypocalciuric hypercalcaemia: Evidence for continued enhanced renal tubular reabsorption of calcium following total parathyroidectomy
    • Copenh.
    • Davies M, Adams PH, Lumb GA, Berry JL, Loveridge N. 1984 Familial hypocalciuric hypercalcaemia: evidence for continued enhanced renal tubular reabsorption of calcium following total parathyroidectomy. Acta Endocrinol (Copenh). 106:499-504.
    • (1984) Acta Endocrinol , vol.106 , pp. 499-504
    • Davies, M.1    Adams, P.H.2    Lumb, G.A.3    Berry, J.L.4    Loveridge, N.5
  • 26
    • 18744429143 scopus 로고
    • The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families
    • Chou YHW, Brown EM, Levi T, et al. 1992 The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nature Genet. 1:295-300.
    • (1992) Nature Genet. , vol.1 , pp. 295-300
    • Chou, Y.H.W.1    Brown, E.M.2    Levi, T.3
  • 27
    • 0027517161 scopus 로고
    • Genetic linkage analysis of familial benign (hypocalciuric) hypercalcemia: Evidence for locus heterogeneity
    • Heath H, Jackson CE, Otterud B, Leppert MF. 1993 Genetic linkage analysis of familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. Am J Hum Genet. 53:193-200.
    • (1993) Am J Hum Genet. , vol.53 , pp. 193-200
    • Heath, H.1    Jackson, C.E.2    Otterud, B.3    Leppert, M.F.4
  • 28
    • 0029073170 scopus 로고
    • Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FHH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FHH
    • Trump D, Whyte MP, Wooding C, et al. 1995 Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FHH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FHH. Hum Genet. 96:183-187.
    • (1995) Hum Genet. , vol.96 , pp. 183-187
    • Trump, D.1    Whyte, M.P.2    Wooding, C.3
  • 29
    • 0028988333 scopus 로고
    • 2+-sensing receptor gene that cause familial hypocalciuric hypercalcaemia
    • 2+-sensing receptor gene that cause familial hypocalciuric hypercalcaemia. Am J Hum Genet. 56:1075-1079.
    • (1995) Am J Hum Genet. , vol.56 , pp. 1075-1079
    • Chou, Y.W.H.1    Pollak, M.R.2    Brandi, M.L.3
  • 30
    • 0028848215 scopus 로고
    • Calcium-sensing receptor mutations in familial benign hypocalcaemia and neonatal hyperparathyroidism
    • Pearce SHS, Trump D, Wooding C, et al. 1995 Calcium-sensing receptor mutations in familial benign hypocalcaemia and neonatal hyperparathyroidism. J Clin Invest. 96:2683-2692.
    • (1995) J Clin Invest. , vol.96 , pp. 2683-2692
    • Pearce, S.H.S.1    Trump, D.2    Wooding, C.3
  • 31
    • 84995969210 scopus 로고
    • Mutations of calcium-receptor exons 4 and 7 do not account for all cases of familial benign (hypocalciuric) hypercalcaemia
    • Heath III H, Odelberg S, Brown D, et al. 1995 Mutations of calcium-receptor exons 4 and 7 do not account for all cases of familial benign (hypocalciuric) hypercalcaemia. Bone. 16(Suppl):140S.
    • (1995) Bone , vol.16 , Issue.SUPPL.
    • Heath III, H.1    Odelberg, S.2    Brown, D.3
  • 32
    • 0028940268 scopus 로고
    • 2+-sensing receptor gene in familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism
    • 2+-sensing receptor gene in familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism. Am J Hum Genet. 56:880-886.
    • (1995) Am J Hum Genet. , vol.56 , pp. 880-886
    • Janicic, N.1    Pausova, Z.2    Cole, D.E.C.3
  • 34
    • 0020075824 scopus 로고
    • An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds
    • Marx SJ, Attie MF, Spiegel AM, et al. 1982 An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. N Engl J Med. 306:257-264.
    • (1982) N Engl J Med. , vol.306 , pp. 257-264
    • Marx, S.J.1    Attie, M.F.2    Spiegel, A.M.3
  • 35
    • 0001807219 scopus 로고
    • Familial hypocalciuric hypercalcemia
    • Bilezikian JP, Levine MA, Marcus R, eds. New York: Raven Press
    • Heath DA. 1994 Familial hypocalciuric hypercalcemia. In: Bilezikian JP, Levine MA, Marcus R, eds. The parathyroids. New York: Raven Press; 699-710.
    • (1994) The Parathyroids , pp. 699-710
    • Heath, D.A.1
  • 36
    • 0023196781 scopus 로고
    • Self limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcaemia
    • Page LA, Haddow JE. 1987 Self limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcaemia. J Pediatr. 111:261-264.
    • (1987) J Pediatr. , vol.111 , pp. 261-264
    • Page, L.A.1    Haddow, J.E.2
  • 37
    • 0027426286 scopus 로고
    • Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia
    • Wilkinson H, James J. 1993 Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia. Arch Dis Child. 69:319-321.
    • (1993) Arch Dis Child. , vol.69 , pp. 319-321
    • Wilkinson, H.1    James, J.2
  • 38
    • 0024562475 scopus 로고
    • Neonatal hyperparathyroidism: The natural course in the absence of surgical intervention
    • Harris SS, D'Ercole AJ. 1989 Neonatal hyperparathyroidism: the natural course in the absence of surgical intervention. Pediatrics. 83:53-56.
    • (1989) Pediatrics , vol.83 , pp. 53-56
    • Harris, S.S.1    D'Ercole, A.J.2
  • 39
    • 0028220464 scopus 로고
    • Familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype
    • Pollak MR, Chou YHW, Marx SJ, et al. 1994 Familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest. 93:1108-1112.
    • (1994) J Clin Invest. , vol.93 , pp. 1108-1112
    • Pollak, M.R.1    Chou, Y.H.W.2    Marx, S.J.3
  • 40
    • 0022589010 scopus 로고
    • Secretory dysfunction in parathyroid cells from a neonate with severe primary hyperparathyroidism
    • Marx SJ, Lasker RD, Brown EM, et al. 1986 Secretory dysfunction in parathyroid cells from a neonate with severe primary hyperparathyroidism. J Clin Endocrinol Metab. 62:445-449.
    • (1986) J Clin Endocrinol Metab. , vol.62 , pp. 445-449
    • Marx, S.J.1    Lasker, R.D.2    Brown, E.M.3
  • 41
    • 0022537970 scopus 로고
    • Severe primary hyperparathyroidism in a neonate with two hypercalcaemic parents: Management with parathyroidectomy and heterotopic autotransplantation
    • Cooper L, Wertheimer J, Levey R, et al. 1986 Severe primary hyperparathyroidism in a neonate with two hypercalcaemic parents: management with parathyroidectomy and heterotopic autotransplantation. Pediatrics. 78:263-268.
    • (1986) Pediatrics , vol.78 , pp. 263-268
    • Cooper, L.1    Wertheimer, J.2    Levey, R.3
  • 44
    • 0026865130 scopus 로고
    • A donor splice mutation in the parathyroid hormone gene in association with autosomal recessive hypoparathyroidism
    • Parkinson DB, Thakker RV. 1992 A donor splice mutation in the parathyroid hormone gene in association with autosomal recessive hypoparathyroidism Nature Genet. 1:149-153.
    • (1992) Nature Genet. , vol.1 , pp. 149-153
    • Parkinson, D.B.1    Thakker, R.V.2
  • 45
    • 0025013749 scopus 로고
    • Mutations of the signal peptide encoding region of preproparathyroid hormone gene in isolated hypoparathyroidism
    • Arnold A, Horst SA, Gardella TJ, et al. 1990 Mutations of the signal peptide encoding region of preproparathyroid hormone gene in isolated hypoparathyroidism. J Clin Invest. 86:1084-1087.
    • (1990) J Clin Invest. , vol.86 , pp. 1084-1087
    • Arnold, A.1    Horst, S.A.2    Gardella, T.J.3
  • 46
    • 0028074712 scopus 로고
    • Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13
    • Finegold DN, Armitage MM, Galiani M, et al. 1994 Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. Pediatr Res. 36:414-417.
    • (1994) Pediatr Res. , vol.36 , pp. 414-417
    • Finegold, D.N.1    Armitage, M.M.2    Galiani, M.3
  • 47
    • 0002857324 scopus 로고
    • A missense mutation in the Ca-sensing receptor causes familial autosomal dominant hypoparathyroidism
    • Perry YM, Finegold DN, Armitage MM, Ferrell RE. 1994 A missense mutation in the Ca-sensing receptor causes familial autosomal dominant hypoparathyroidism. Am J Hum Genet. 55(Suppl):A17.
    • (1994) Am J Hum Genet. , vol.55 , Issue.SUPPL.
    • Perry, Y.M.1    Finegold, D.N.2    Armitage, M.M.3    Ferrell, R.E.4
  • 48
    • 1842294688 scopus 로고
    • Autosomal dominant hypocalcaemic hypercalciuria associated with a mutation in the calcium-sensing receptor
    • Pearce SHS, Coulthard M, Kendall-Taylor P, Thakker RV. 1995 Autosomal dominant hypocalcaemic hypercalciuria associated with a mutation in the calcium-sensing receptor. J Bone Miner Res. 10(Suppl 1):S176.
    • (1995) J Bone Miner Res. , vol.10 , Issue.1 SUPPL.
    • Pearce, S.H.S.1    Coulthard, M.2    Kendall-Taylor, P.3    Thakker, R.V.4
  • 49
    • 0028802374 scopus 로고
    • Genetic abnormalities in sporadic parathyroid adenomas: Loss of heterozygosity for chromosome 3q markers flanking the calcium receptor locus
    • Thompson DB, Samowitz WS, Odelberg S, Davis RK, Szabo J, Heath III H. 1995 Genetic abnormalities in sporadic parathyroid adenomas: loss of heterozygosity for chromosome 3q markers flanking the calcium receptor locus. J Clin Endocrinol Metab. 80:3377-3380.
    • (1995) J Clin Endocrinol Metab. , vol.80 , pp. 3377-3380
    • Thompson, D.B.1    Samowitz, W.S.2    Odelberg, S.3    Davis, R.K.4    Szabo, J.5    Heath III, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.