메뉴 건너뛰기




Volumn 88, Issue 9, 2003, Pages 4055-4058

Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: Molecular evidence to clinical presentation

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; GONADOTROPIN; GROWTH HORMONE RELEASING FACTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; HORMONE; MESSENGER RNA; RECOMBINANT GROWTH HORMONE; THYROTROPIN;

EID: 0141788038     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-031271     Document Type: Editorial
Times cited : (34)

References (44)
  • 1
    • 0000821313 scopus 로고
    • Pseudohypoparathyroidism - An example of "Seabright-Bantam syndrome"
    • Albright F, Burnett CH, Smith PH, Parson W 1942 Pseudohypoparathyroidism - an example of "Seabright-Bantam syndrome". Endocrinology 30:922-932
    • (1942) Endocrinology , vol.30 , pp. 922-932
    • Albright, F.1    Burnett, C.H.2    Smith, P.H.3    Parson, W.4
  • 2
    • 0034793851 scopus 로고    scopus 로고
    • Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting
    • Weinstein LS, Yu S, Warner DR, Liu J 2001 Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting. Endocr Rev 22:675-705
    • (2001) Endocr Rev , vol.22 , pp. 675-705
    • Weinstein, L.S.1    Yu, S.2    Warner, D.R.3    Liu, J.4
  • 3
    • 0005371412 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism
    • Bilezikian JP, Raisz LG, Rodan GA, eds. New York: Academic Press
    • Levine MA 2002 Pseudohypoparathyroidism. In: Bilezikian JP, Raisz LG, Rodan GA, eds. Principles of bone biology. New York: Academic Press; 1137-1163
    • (2002) Principles of Bone Biology , pp. 1137-1163
    • Levine, M.A.1
  • 4
    • 0023937364 scopus 로고
    • Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type 1a
    • Shima M, Nose O, Shimizu K, Seino Y, Yabuuchi H, Saito T 1988 Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type 1a. Eur J Pediatr 147:536-538
    • (1988) Eur J Pediatr , vol.147 , pp. 536-538
    • Shima, M.1    Nose, O.2    Shimizu, K.3    Seino, Y.4    Yabuuchi, H.5    Saito, T.6
  • 5
    • 0034756288 scopus 로고    scopus 로고
    • A case of pseudohypoparathyroidism type Ia complicated with growth hormone deficiency: Recovery of growth hormone secretion after vitamin D therapy
    • Kaji M, Umeda K, Ashida M, Tajima T 2001 A case of pseudohypoparathyroidism type Ia complicated with growth hormone deficiency: recovery of growth hormone secretion after vitamin D therapy. Eur J Pediatr 160:679-681
    • (2001) Eur J Pediatr , vol.160 , pp. 679-681
    • Kaji, M.1    Umeda, K.2    Ashida, M.3    Tajima, T.4
  • 6
    • 0029113971 scopus 로고
    • Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings
    • Scott DC, Hung W 1995 Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings. J Pediatr Endocrinol Metab 8:205-207
    • (1995) J Pediatr Endocrinol Metab , vol.8 , pp. 205-207
    • Scott, D.C.1    Hung, W.2
  • 9
    • 0035013623 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy of chromosome 20q (patUPD20q)-and the resulting changes in GNAS1 methylation-as a plausible cause of pseudohypoparathyroidism
    • Bastepe M, Lane AH, Jüppner H 2001 Paternal uniparental isodisomy of chromosome 20q (patUPD20q)-and the resulting changes in GNAS1 methylation-as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 68:1283-1289
    • (2001) Am J Hum Genet , vol.68 , pp. 1283-1289
    • Bastepe, M.1    Lane, A.H.2    Jüppner, H.3
  • 10
    • 0035362592 scopus 로고    scopus 로고
    • Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: Evidence for a long-range regulatory element within the imprinted GNAS1 locus
    • Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H 2001 Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. Hum Mol Genet 10:1231-1241
    • (2001) Hum Mol Genet , vol.10 , pp. 1231-1241
    • Bastepe, M.1    Pincus, J.E.2    Sugimoto, T.3    Tojo, K.4    Kanatani, M.5    Azuma, Y.6    Kruse, K.7    Rosenbloom, A.L.8    Koshiyama, H.9    Jüppner, H.10
  • 11
    • 0141857714 scopus 로고    scopus 로고
    • sα is imprinted in human thyroid glands: Implications for thyroid function in pseudohypoparathyroidism types 1A and 1B
    • sα is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 88: 4336-4341.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4336-4341
    • Liu, J.1    Erlichman, B.2    Weinstein, L.S.3
  • 14
    • 0027399429 scopus 로고
    • Imprinting in Albright's hereditary osteodystrophy
    • Davies AJ, Hughes HE 1993 Imprinting in Albright's hereditary osteodystrophy. J Med Genet 30:101-103
    • (1993) J Med Genet , vol.30 , pp. 101-103
    • Davies, A.J.1    Hughes, H.E.2
  • 15
    • 0141846433 scopus 로고    scopus 로고
    • The paternally imprinted autosomal dominant form of pseudohypoparathyroidism type-Ib is associated with a 2998-bp deletion centromeric of GNAS1
    • Minneapolis, MN, Abstract OR46-2
    • Bastepe M, Fröhlich F, Jüppner H, The paternally imprinted autosomal dominant form of pseudohypoparathyroidism type-Ib is associated with a 2998-bp deletion centromeric of GNAS1. Proc 25th Annual Meeting of the American Society for Bone and Mineral Research, Minneapolis, MN, 2003, p 123 (Abstract OR46-2)
    • (2003) Proc 25th Annual Meeting of the American Society for Bone and Mineral Research , pp. 123
    • Bastepe, M.1    Fröhlich, F.2    Jüppner, H.3
  • 16
    • 0002038659 scopus 로고    scopus 로고
    • Introduction to G-protein-coupled signal transduction and human disease
    • Spiegel AM, ed. Totowa, NJ: Humana Press
    • Spiegel AM 1998 Introduction to G-protein-coupled signal transduction and human disease. In: Spiegel AM, ed. G proteins, receptors, and disease. Totowa, NJ: Humana Press; 1-21
    • (1998) G Proteins, Receptors, and Disease , pp. 1-21
    • Spiegel, A.M.1
  • 17
    • 0020627955 scopus 로고
    • Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein
    • Levine MA, Downs Jr RW, Moses AM, Breslau NA, Marx SJ, Lasker RD, Rizzoli RE, Aurbach GD, Spiegel AM 1983 Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 74:545-556
    • (1983) Am J Med , vol.74 , pp. 545-556
    • Levine, M.A.1    Downs R.W., Jr.2    Moses, A.M.3    Breslau, N.A.4    Marx, S.J.5    Lasker, R.D.6    Rizzoli, R.E.7    Aurbach, G.D.8    Spiegel, A.M.9
  • 19
    • 0020593894 scopus 로고
    • Blunted plasma cyclic adenosine monophosphate response to isoproterenol in pseudohypoparathyroidism
    • Carlson HE, Brickman AS 1983 Blunted plasma cyclic adenosine monophosphate response to isoproterenol in pseudohypoparathyroidism. J Clin Endocrinol Metab 56:1323-1326
    • (1983) J Clin Endocrinol Metab , vol.56 , pp. 1323-1326
    • Carlson, H.E.1    Brickman, A.S.2
  • 20
    • 0028068226 scopus 로고
    • Parental origin of transcription from the human GNAS1 gene
    • Campbell R, Gosden CM, Bonthron DT 1994 Parental origin of transcription from the human GNAS1 gene. J Med Genet 31:607-614
    • (1994) J Med Genet , vol.31 , pp. 607-614
    • Campbell, R.1    Gosden, C.M.2    Bonthron, D.T.3
  • 22
    • 0032433682 scopus 로고    scopus 로고
    • Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
    • Hayward BE, Moran V, Strain L, Bonthron DT 1998 Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA 95:15475-15480
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 15475-15480
    • Hayward, B.E.1    Moran, V.2    Strain, L.3    Bonthron, D.T.4
  • 23
    • 0034740058 scopus 로고    scopus 로고
    • Gαs transcripts are biallelically expressed in the human kidney cortex: Implications for pseudohypoparathyroidism type Ib
    • Zheng H, Radeva G, McCann JA, Hendy GN, Goodyer CG 2001 Gαs transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 86:4627-4629
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 4627-4629
    • Zheng, H.1    Radeva, G.2    McCann, J.A.3    Hendy, G.N.4    Goodyer, C.G.5
  • 25
    • 0028670789 scopus 로고
    • XLαs is a new type of G protein
    • Erratum (1995) 375:253
    • Kehlenbach RH, Matthey J, Huttner WB 1994 XLαs is a new type of G protein [Erratum (1995) 375:253]. Nature 372:804-809
    • (1994) Nature , vol.372 , pp. 804-809
    • Kehlenbach, R.H.1    Matthey, J.2    Huttner, W.B.3
  • 26
    • 0030998512 scopus 로고    scopus 로고
    • Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity
    • Ischia R, Lovisetti-Scamihorn P, Hogue-Angeletti R, Wolkersdorfer M, Winkler H, Fischer-Colbrie R 1997 Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity. J Biol Chem 272:11657-11662
    • (1997) J Biol Chem , vol.272 , pp. 11657-11662
    • Ischia, R.1    Lovisetti-Scamihorn, P.2    Hogue-Angeletti, R.3    Wolkersdorfer, M.4    Winkler, H.5    Fischer-Colbrie, R.6
  • 27
    • 0025814814 scopus 로고
    • Differential expression of novel Gs α signal transduction protein cDNA species
    • Swaroop A, Agarwal N, Gruen JR, Bick D, Weissman SM 1991 Differential expression of novel Gs α signal transduction protein cDNA species. Nucleic Acids Res 19:4725-4729
    • (1991) Nucleic Acids Res , vol.19 , pp. 4725-4729
    • Swaroop, A.1    Agarwal, N.2    Gruen, J.R.3    Bick, D.4    Weissman, S.M.5
  • 28
    • 0033865243 scopus 로고    scopus 로고
    • Identification of a methylation imprint mark within the mouse gnas locus
    • Liu J, Yu S, Litman D, Chen W, Weinstein L 2000 Identification of a methylation imprint mark within the mouse gnas locus. Mol Cell Biol 20:5808-5817
    • (2000) Mol Cell Biol , vol.20 , pp. 5808-5817
    • Liu, J.1    Yu, S.2    Litman, D.3    Chen, W.4    Weinstein, L.5
  • 30
    • 0034701294 scopus 로고    scopus 로고
    • An imprinted antisense transcript at the human GNAS1 locus
    • Hayward B, Bonthron D 2000 An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet 9:835-841
    • (2000) Hum Mol Genet , vol.9 , pp. 835-841
    • Hayward, B.1    Bonthron, D.2
  • 35
    • 0036771614 scopus 로고    scopus 로고
    • The Gsα gene: Predominant maternal origin of transcription in human thyroid gland and gonads
    • Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A 2002 The Gsα gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 87:4736-4740
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4736-4740
    • Mantovani, G.1    Ballare, E.2    Giammona, E.3    Beck-Peccoz, P.4    Spada, A.5
  • 37
    • 0026079186 scopus 로고
    • Pseudohypoparathyroidism: Its phenotypic variability and associated disorders in a large family
    • Faull CM, Welbury RR, Paul B, Kendall-Taylor P 1991 Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family. Q J Med 78:251-264
    • (1991) Q J Med , vol.78 , pp. 251-264
    • Faull, C.M.1    Welbury, R.R.2    Paul, B.3    Kendall-Taylor, P.4
  • 39
    • 0141606268 scopus 로고    scopus 로고
    • Growth hormone deficiency in pseudohypoparathyroidism type 1a: Another manifestation of multihormone resistance
    • Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA 2003 Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinology Metab 88: 4059-4069
    • (2003) J Clin Endocrinology Metab , vol.88 , pp. 4059-4069
    • Germain-Lee, E.L.1    Groman, J.2    Crane, J.L.3    Jan De Beur, S.M.4    Levine, M.A.5
  • 40
    • 0024418886 scopus 로고
    • Deficient erythrocyte membrane Gs α activity and resistance to trophic hormones of multiple endocrine organs in two cases of pseudohypoparathyroidism
    • Tsai KS, Chang CC, Wu DJ, Huang TS, Tsai IH, Chen FW 1989 Deficient erythrocyte membrane Gs α activity and resistance to trophic hormones of multiple endocrine organs in two cases of pseudohypoparathyroidism. Taiwan Yi Xue Hui Za Zhi 88:450-455
    • (1989) Taiwan Yi Xue Hui Za Zhi , vol.88 , pp. 450-455
    • Tsai, K.S.1    Chang, C.C.2    Wu, D.J.3    Huang, T.S.4    Tsai, I.H.5    Chen, F.W.6
  • 41
    • 0034721880 scopus 로고    scopus 로고
    • Characterization of the extra-large G protein α-subunit XLαs. I. Tissue distribution and subcellular localization
    • Pasolli H, Klemke M, Kehlenbach R, Wang Y, Huttner W 2000 Characterization of the extra-large G protein α-subunit XLαs. I. Tissue distribution and subcellular localization. J Biol Chem 275:33622-33632
    • (2000) J Biol Chem , vol.275 , pp. 33622-33632
    • Pasolli, H.1    Klemke, M.2    Kehlenbach, R.3    Wang, Y.4    Huttner, W.5
  • 42
    • 0036020511 scopus 로고    scopus 로고
    • Receptor-mediated adenylyl cyclase activation through XLαs, the extra-large variant of the stimulatory G protein α-subunit
    • Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Jüppner H 2002 Receptor-mediated adenylyl cyclase activation through XLαs, the extra-large variant of the stimulatory G protein α-subunit. Mol Endocrinol 16:1912-1919
    • (2002) Mol Endocrinol , vol.16 , pp. 1912-1919
    • Bastepe, M.1    Gunes, Y.2    Perez-Villamil, B.3    Hunzelman, J.4    Weinstein, L.S.5    Jüppner, H.6
  • 43
    • 0034752247 scopus 로고    scopus 로고
    • The stimulatory G protein α-subunit gene: Mutations and imprinting lead to complex phenotypes
    • Weinstein LS 2001 The stimulatory G protein α-subunit gene: mutations and imprinting lead to complex phenotypes. J Clin Endocrinol Metab 86:4622-4626
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 4622-4626
    • Weinstein, L.S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.