메뉴 건너뛰기




Volumn 7, Issue 5, 1996, Pages 157-162

Jansen's metaphyseal chondrodysplasia: A disorder due to a PTH/PTHrP receptor gene mutation

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; CYCLIC AMP; DNA; MINERAL; PARATHYROID HORMONE; PARATHYROID HORMONE RECEPTOR;

EID: 0030199951     PISSN: 10432760     EISSN: None     Source Type: Journal    
DOI: 10.1016/1043-2760(96)00063-X     Document Type: Short Survey
Times cited : (21)

References (48)
  • 1
    • 0027968182 scopus 로고
    • Parathyroid hormone-related peptide-depleted mice show abnormal epiphyseal cartilage development and altered endochondreal bone formation
    • Amizuka N, Warshawsky H, Henderson JE, Goltzman D, Karaplis AC: 1994, Parathyroid hormone-related peptide-depleted mice show abnormal epiphyseal cartilage development and altered endochondreal bone formation. J Cell Biol 126:1611-1623.
    • (1994) J Cell Biol , vol.126 , pp. 1611-1623
    • Amizuka, N.1    Warshawsky, H.2    Henderson, J.E.3    Goltzman, D.4    Karaplis, A.C.5
  • 2
    • 0015608027 scopus 로고
    • Metaphyseal dysostosis, Jansen type
    • Arroyo-Scotoliff H: 1973. Metaphyseal dysostosis, Jansen type. J Bone Joint Surg 55A:623-629.
    • (1973) J Bone Joint Surg , vol.55 A , pp. 623-629
    • Arroyo-Scotoliff, H.1
  • 3
    • 0002415989 scopus 로고
    • Parathyroid hormone-related protein: Structure, processing, and physiological actions
    • Bilezikian JP, Levine MA, Marcus R, eds. New York, Raven Press
    • Broadus AE, Stewart AF: 1994. Parathyroid hormone-related protein: Structure, processing, and physiological actions. In Bilezikian JP, Levine MA, Marcus R, eds. The Parathyroids. Basic and Clinical Concepts. New York, Raven Press, pp 259-294.
    • (1994) The Parathyroids. Basic and Clinical Concepts , pp. 259-294
    • Broadus, A.E.1    Stewart, A.F.2
  • 5
    • 0021244473 scopus 로고
    • The Jansen type of metaphyseal chondrodysplasia: Conformation of dominant inheritance and review of radiographic manifestations in the newborn and adult
    • Charrow J, Poznanski AK: 1984. The Jansen type of metaphyseal chondrodysplasia: conformation of dominant inheritance and review of radiographic manifestations in the newborn and adult. J Med Genet 18:321-327.
    • (1984) J Med Genet , vol.18 , pp. 321-327
    • Charrow, J.1    Poznanski, A.K.2
  • 6
    • 0014514697 scopus 로고
    • Metaphysial dysostosis: A late follow-up of the first reported case
    • De Haas WHD, De Boer W, Griffioen F: 1969. Metaphysial dysostosis: a late follow-up of the first reported case. J Bone Joint Surg 51B:290-299.
    • (1969) J Bone Joint Surg , vol.51 B , pp. 290-299
    • De Haas, W.H.D.1    De Boer, W.2    Griffioen, F.3
  • 7
    • 0027248024 scopus 로고
    • Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
    • Dryja TP, Berson EL, Rao VR, Oprian DD: 1993. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet 4:280-283.
    • (1993) Nat Genet , vol.4 , pp. 280-283
    • Dryja, T.P.1    Berson, E.L.2    Rao, V.R.3    Oprian, D.D.4
  • 8
    • 0028240982 scopus 로고
    • Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism
    • Duprez L, Parma J, Van Sande J, et al.: 1994. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 7: 396-401.
    • (1994) Nat Genet , vol.7 , pp. 396-401
    • Duprez, L.1    Parma, J.2    Van Sande, J.3
  • 9
    • 0002686460 scopus 로고
    • Conditions that may be confused with rickets
    • DeLuca HF, Anast CS, eds. New York, Elsevier
    • Frame B, Poznanski AK: 1980. Conditions that may be confused with rickets. In DeLuca HF, Anast CS, eds. Pediatric Diseases Related to Calcium. New York, Elsevier, pp 269-289.
    • (1980) Pediatric Diseases Related to Calcium , pp. 269-289
    • Frame, B.1    Poznanski, A.K.2
  • 11
    • 0009505730 scopus 로고
    • Skeletal dysplasias
    • Bergsma D, ed. Baltimore, MD, The National Foundation-March of Dimes
    • Holt JF: 1969. Skeletal dysplasias. In Bergsma D, ed. The Clinical Delineation of Birth Defects. Baltimore, MD, The National Foundation-March of Dimes, pp 73-75.
    • (1969) The Clinical Delineation of Birth Defects , pp. 73-75
    • Holt, J.F.1
  • 12
    • 0016769592 scopus 로고
    • The skull in metaphyseal chondrodysplasia type Jansen
    • Holthusen W, Holt JF, Stoeckenius M. 1975. The skull in metaphyseal chondrodysplasia type Jansen. Pediatr Radiol 3:137-144.
    • (1975) Pediatr Radiol , vol.3 , pp. 137-144
    • Holthusen, W.1    Holt, J.F.2    Stoeckenius, M.3
  • 13
    • 0028232758 scopus 로고
    • Changes in parathyroid hormone receptors during chondrocyte cytodifferentiation
    • Iwamoto M, Jikko A, Murakami H, et al.: 1994. Changes in parathyroid hormone receptors during chondrocyte cytodifferentiation. J Biol Chem 269:17,245-17,251.
    • (1994) J Biol Chem , vol.269 , pp. 17245-17251
    • Iwamoto, M.1    Jikko, A.2    Murakami, H.3
  • 15
    • 0001056744 scopus 로고
    • Über atypische chondrodystrophie (Achondroplasie) und über eine noch nicht beschriebene angeborene wachstumsstörung des knochensystems: Metaphysäre Dysostosis
    • Jansen M: 1934. Über atypische Chondrodystrophie (Achondroplasie) und über eine noch nicht beschriebene angeborene Wachstumsstörung des Knochensystems: metaphysäre Dysostosis. Z Orthop Chir 61: 253-286.
    • (1934) Z Orthop Chir , vol.61 , pp. 253-286
    • Jansen, M.1
  • 16
    • 0030026179 scopus 로고    scopus 로고
    • Effects of cyclic adenosine 3′,5′-monophosphate on chondrocyte terminal differentiation and cartilage-matrix calcification
    • Jikko A, Murakami H, Yan W, et al.: 1996. Effects of cyclic adenosine 3′,5′-monophosphate on chondrocyte terminal differentiation and cartilage-matrix calcification. Endocrinology 137:122-128.
    • (1996) Endocrinology , vol.137 , pp. 122-128
    • Jikko, A.1    Murakami, H.2    Yan, W.3
  • 17
    • 0028465518 scopus 로고
    • Molecular cloning and characterization of a parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptor: A member of an ancient family of g protein-coupled receptors
    • Jüppner H: 1994. Molecular cloning and characterization of a parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptor: a member of an ancient family of G protein-coupled receptors. Curr Opin Nephrol Hypertens 3:371-378.
    • (1994) Curr Opin Nephrol Hypertens , vol.3 , pp. 371-378
    • Jüppner, H.1
  • 18
    • 0028057743 scopus 로고
    • Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene
    • Karaplis AC, Luz A, Glowacki J, et al.: 1994. Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev 8:277-289.
    • (1994) Genes Dev , vol.8 , pp. 277-289
    • Karaplis, A.C.1    Luz, A.2    Glowacki, J.3
  • 19
    • 0026670303 scopus 로고
    • Two unusual cases of nephrocalcinosis in infancy
    • Kessel D, Hall CM, Shaw DG: 1992. Two unusual cases of nephrocalcinosis in infancy. Pediatr Radiol 22:470-471.
    • (1992) Pediatr Radiol , vol.22 , pp. 470-471
    • Kessel, D.1    Hall, C.M.2    Shaw, D.G.3
  • 20
    • 0017279718 scopus 로고
    • Metaphysial dysostosis (Jansen type): Report of a case with long follow-up
    • Kikuchi S, Hasue M, Watanabe M, Hasebe K: 1976. Metaphysial dysostosis (Jansen type): report of a case with long follow-up. J Bone Joint Surg 58B:102-106.
    • (1976) J Bone Joint Surg , vol.58 B , pp. 102-106
    • Kikuchi, S.1    Hasue, M.2    Watanabe, M.3    Hasebe, K.4
  • 21
    • 0025228962 scopus 로고
    • Potent mitogenic effects of parathyroid hormone (PTH) on embryonic chick and rabbit chondrocytes: Differential effects of age on growth, proteoglycan, and cyclic AMP responses of chondrocytes to PTH
    • Koike T, Iwamoto M, Shimazu A, Nakashima K, Suzuki F, Kato Y: 1990. Potent mitogenic effects of parathyroid hormone (PTH) on embryonic chick and rabbit chondrocytes: differential effects of age on growth, proteoglycan, and cyclic AMP responses of chondrocytes to PTH. J Clin Invest 85:626-631.
    • (1990) J Clin Invest , vol.85 , pp. 626-631
    • Koike, T.1    Iwamoto, M.2    Shimazu, A.3    Nakashima, K.4    Suzuki, F.5    Kato, Y.6
  • 22
    • 0028891649 scopus 로고
    • Brief report: Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene
    • Kopp P, van Sande J, Parma J, et al.: 1995. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. New Engl J Med 332:150-154.
    • (1995) New Engl J Med , vol.332 , pp. 150-154
    • Kopp, P.1    Van Sande, J.2    Parma, J.3
  • 23
    • 0028846632 scopus 로고
    • A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty
    • Kraaij R, Post M, Kremer H, et al.: 1995. A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty. J Clin Endocrinol Metab 80: 3168-3172.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 3168-3172
    • Kraaij, R.1    Post, M.2    Kremer, H.3
  • 25
    • 0027522210 scopus 로고
    • Calcium metabolism in the Jansen type of metaphyseal dysplasia
    • Kruse K, Schütz C: 1993. Calcium metabolism in the Jansen type of metaphyseal dysplasia. Eur J Pediatr 152:912-915.
    • (1993) Eur J Pediatr , vol.152 , pp. 912-915
    • Kruse, K.1    Schütz, C.2
  • 26
    • 0000421088 scopus 로고
    • Characterization of mice homozygous for the PTH/PTHrP receptor gene null mutation
    • Lanske B, Karaplis AC, Luz A, Mulligan RC, Kronenberg HM: 1994. Characterization of mice homozygous for the PTH/PTHrP receptor gene null mutation. J Bone Miner Res 9(Suppl 1):S121.
    • (1994) J Bone Miner Res , vol.9 , Issue.SUPPL. 1
    • Lanske, B.1    Karaplis, A.C.2    Luz, A.3    Mulligan, R.C.4    Kronenberg, H.M.5
  • 27
  • 28
    • 0016586539 scopus 로고
    • Hormonal regulation of cartilage growth and metabolism
    • Lebovitz HE, Eisenbarth GS: 1975. Hormonal regulation of cartilage growth and metabolism. Vitam Horm 33:575-648.
    • (1975) Vitam Horm , vol.33 , pp. 575-648
    • Lebovitz, H.E.1    Eisenbarth, G.S.2
  • 29
    • 0028054803 scopus 로고
    • Parathyroid hormone induces sequential c-fos expression in bone cells in vivo: In situ localization of its receptor and c-fos messenger ribonucleic acids
    • Lee K, Deeds JD, Chiba S, Un-no M, Bond AT, Segre GV: 1994. Parathyroid hormone induces sequential c-fos expression in bone cells in vivo: in situ localization of its receptor and c-fos messenger ribonucleic acids. Endocrinology 134:441-450.
    • (1994) Endocrinology , vol.134 , pp. 441-450
    • Lee, K.1    Deeds, J.D.2    Chiba, S.3    Un-No, M.4    Bond, A.T.5    Segre, G.V.6
  • 30
    • 0028947897 scopus 로고
    • Expression of parathyroid hormone-related peptide and its receptor messenger ribonucleic acid during fetal development of rats
    • Lee K, Deeds JD, Segre GV: 1995. Expression of parathyroid hormone-related peptide and its receptor messenger ribonucleic acid during fetal development of rats. Endocrinology 136:453-463.
    • (1995) Endocrinology , vol.136 , pp. 453-463
    • Lee, K.1    Deeds, J.D.2    Segre, G.V.3
  • 31
    • 0011967599 scopus 로고
    • Skeletal dysplasias
    • Bergsma D, ed, The Johns Hopkins Hospital. Baltimore, MD: The National Foundation-March of Dimes
    • Lenz WD: 1969. Skeletal dysplasias. In Bergsma D, ed. Proceedings of the First Conference on the Clinical Delineation of Birth Defects, V, No. 4, The Johns Hopkins Hospital. Baltimore, MD: The National Foundation-March of Dimes, pp 71-72.
    • (1969) Proceedings of the First Conference on the Clinical Delineation of Birth Defects , vol.5 , Issue.4 , pp. 71-72
    • Lenz, W.D.1
  • 32
    • 0027369421 scopus 로고
    • Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas
    • Parma J, Duprez L, Van Sande J, et al.: 1993. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365:649-651.
    • (1993) Nature , vol.365 , pp. 649-651
    • Parma, J.1    Duprez, L.2    Van Sande, J.3
  • 33
    • 0028588698 scopus 로고
    • Identification and functional characterization of two new somatic mutations causing constitutive activation of the TSH receptor in hyperfunctioning autonomous adenomas of the thyroid
    • Paschke R, Tonacchera M, van Sande J, Parma J, Vassart G: 1994. Identification and functional characterization of two new somatic mutations causing constitutive activation of the TSH receptor in hyperfunctioning autonomous adenomas of the thyroid. J Clin Endocrinol Metab 79:1785-1789.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1785-1789
    • Paschke, R.1    Tonacchera, M.2    Van Sande, J.3    Parma, J.4    Vassart, G.5
  • 35
    • 0002845338 scopus 로고
    • Hypercalcemia in metaphyseal chondrodysplasia of Jansen (MCD): An enigma
    • Norman AW, Schaefer K, von Herrath D, et al., eds. Berlin, Walter de Gruyter
    • Rao DS, Frame B, Reynolds WA, Parfitt AM: 1979. Hypercalcemia in metaphyseal chondrodysplasia of Jansen (MCD): an enigma. In Norman AW, Schaefer K, von Herrath D, et al., eds. Vitamin D, Basic Research and Its Clinical Application. Berlin, Walter de Gruyter, pp 1173-1176.
    • (1979) Vitamin D, Basic Research and Its Clinical Application , pp. 1173-1176
    • Rao, D.S.1    Frame, B.2    Reynolds, W.A.3    Parfitt, A.M.4
  • 37
    • 0027325376 scopus 로고
    • Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor
    • Schipani E, Karga H, Karaplis AC, et al.: 1993. Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor. Endocrinology 132:2157-2165.
    • (1993) Endocrinology , vol.132 , pp. 2157-2165
    • Schipani, E.1    Karga, H.2    Karaplis, A.C.3
  • 38
    • 0028943780 scopus 로고
    • A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
    • Schipani E, Kruse K, Jüppner H: 1995a. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268:98-100.
    • (1995) Science , vol.268 , pp. 98-100
    • Schipani, E.1    Kruse, K.2    Jüppner, H.3
  • 39
    • 0029041620 scopus 로고
    • Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene
    • Schipani E, Weinstein LS, Bergwitz C, et al.: 1995b. Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab 80:1611-1621.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 1611-1621
    • Schipani, E.1    Weinstein, L.S.2    Bergwitz, C.3
  • 40
    • 0027372340 scopus 로고
    • A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
    • Shenker A, Laue L, Kosugi S, Merendino JJ Jr., Minegishi T, Cutler GB: 993. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365:652-654.
    • (1993) Nature , vol.365 , pp. 652-654
    • Shenker, A.1    Laue, L.2    Kosugi, S.3    Merendino J.J., Jr.4    Minegishi, T.5    Cutler, G.B.6
  • 41
    • 0023130289 scopus 로고
    • Murk Jansen's metaphyseal chondrodysplasia with long-term followup
    • Silverthorn KG, Houston CS, Duncan BP: 1983. Murk Jansen's metaphyseal chondrodysplasia with long-term followup. Pediatr Radiol 17:119-123.
    • (1983) Pediatr Radiol , vol.17 , pp. 119-123
    • Silverthorn, K.G.1    Houston, C.S.2    Duncan, B.P.3
  • 42
    • 0017287921 scopus 로고
    • Hormonal responsiveness of adenylate cyclase activity in cartilage
    • Smith DM, Roth LM, Johnston CC Jr: 1976. Hormonal responsiveness of adenylate cyclase activity in cartilage. Endocrinology 98: 242-246.
    • (1976) Endocrinology , vol.98 , pp. 242-246
    • Smith, D.M.1    Roth, L.M.2    Johnston C.C., Jr.3
  • 43
    • 0021878760 scopus 로고
    • Effects of synthetic analogs and fragments of bovine parathyroid hormone on adenosine 3′,5′-monophosphate level, ornithine decarboxylase activity, and glycosaminoglycan synthesis in rabbit costal chondrocytes in culture: Structure-activity relations
    • Takano T, Takigawa M, Shirai E, Suzuki F, Rosenblatt M: 1985. Effects of synthetic analogs and fragments of bovine parathyroid hormone on adenosine 3′,5′-monophosphate level, ornithine decarboxylase activity, and glycosaminoglycan synthesis in rabbit costal chondrocytes in culture: structure-activity relations. Endocrinology 116:2536-2542.
    • (1985) Endocrinology , vol.116 , pp. 2536-2542
    • Takano, T.1    Takigawa, M.2    Shirai, E.3    Suzuki, F.4    Rosenblatt, M.5
  • 44
    • 0027283013 scopus 로고
    • Parathyroid hormone-parathyroid hormone related protein receptor messenger RNA is present in many tissues besides the kidney
    • Tian J, Smorgorzewski M, Kedes L, Massry SG: 1993. Parathyroid hormone-parathyroid hormone related protein receptor messenger RNA is present in many tissues besides the kidney. Am J Nephrol 13:210-213.
    • (1993) Am J Nephrol , vol.13 , pp. 210-213
    • Tian, J.1    Smorgorzewski, M.2    Kedes, L.3    Massry, S.G.4
  • 45
    • 9044240477 scopus 로고    scopus 로고
    • Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia
    • Tonacchera M, van Sande J, Cetani F, et al.: 1996. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab 81:547-554.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 547-554
    • Tonacchera, M.1    Van Sande, J.2    Cetani, F.3
  • 46
    • 0027171952 scopus 로고
    • Parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptor mRNA are widely distributed in rat tissues
    • Urena P, Kong XF, Abou-Samra AB, et al.: 1993. Parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptor mRNA are widely distributed in rat tissues. Endocrinology 133:617-623.
    • (1993) Endocrinology , vol.133 , pp. 617-623
    • Urena, P.1    Kong, X.F.2    Abou-Samra, A.B.3
  • 47
    • 0029037645 scopus 로고
    • Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2 receptor
    • Usdin TB, Gruber C, Bonner TI: 1995. Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2 receptor. J Biol Chem 270: 15,455-15,458.
    • (1995) J Biol Chem , vol.270 , pp. 15455-15458
    • Usdin, T.B.1    Gruber, C.2    Bonner, T.I.3
  • 48
    • 0001754852 scopus 로고
    • Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes skeletal dysplasia and delayed osteogenesis
    • Weir E, Philbrick W, Neff L, Amling M, Baron R, Broadus A: 1995. Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes skeletal dysplasia and delayed osteogenesis. J Bone Miner Res 10(Suppl 1):S157.
    • (1995) J Bone Miner Res , vol.10 , Issue.SUPPL. 1
    • Weir, E.1    Philbrick, W.2    Neff, L.3    Amling, M.4    Baron, R.5    Broadus, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.