메뉴 건너뛰기




Volumn 56, Issue 3, 2000, Pages 100-109

Pseudohypoparathyroidism type Ia. Albright hereditary osteodystrophy: A model for research on G protein-coupled receptors and genomic imprinting

Author keywords

Albright hereditary osteodystrophy; G(s) mutation; Haploinsufficiency

Indexed keywords

CALCITRIOL; CALCIUM; G PROTEIN COUPLED RECEPTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; PARATHYROID HORMONE; PARATHYROID HORMONE[1-34]; VITAMIN D DERIVATIVE;

EID: 0034159984     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0300-2977(99)00130-8     Document Type: Review
Times cited : (13)

References (69)
  • 1
    • 0000821313 scopus 로고
    • Pseudo-hypoparathyroidism - An example of `Seabright-Bantam syndrome'
    • Albright F., Burnett C.H., Smith P.H., Parson W. Pseudo-hypoparathyroidism - an example of `Seabright-Bantam syndrome'. Endocrinology. 30:1942;922-932.
    • (1942) Endocrinology , vol.30 , pp. 922-932
    • Albright, F.1    Burnett, C.H.2    Smith, P.H.3    Parson, W.4
  • 2
    • 0033119012 scopus 로고    scopus 로고
    • The expanding spectrum of G protein diseases
    • Farfel Z., Bourne H.R., Iiri T. The expanding spectrum of G protein diseases. New Engl J Med. 340:1999;1012-1020.
    • (1999) New Engl J Med , vol.340 , pp. 1012-1020
    • Farfel, Z.1    Bourne, H.R.2    Iiri, T.3
  • 4
    • 0028860268 scopus 로고
    • Heterotrimeric G proteins: Organizers of transmembrane signals
    • Neer E.J. Heterotrimeric G proteins: organizers of transmembrane signals. Cell. 80:1995;249-257.
    • (1995) Cell , vol.80 , pp. 249-257
    • Neer, E.J.1
  • 5
    • 0019309715 scopus 로고
    • Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism
    • Levine M.A., Downs R.W. Jr., Singer M., Marx S.J., Aurbach G.D., Spiegel A.M. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun. 94:1980;1319-1324.
    • (1980) Biochem Biophys Res Commun , vol.94 , pp. 1319-1324
    • Levine, M.A.1    Downs, R.W.2    Singer, M.3    Marx, S.J.4    Aurbach, G.D.5    Spiegel, A.M.6
  • 7
    • 0019207823 scopus 로고
    • Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism
    • Farfel Z., Bourne H.R. Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism. J Clin Endocrinol Metab. 51:1980;1202-1204.
    • (1980) J Clin Endocrinol Metab , vol.51 , pp. 1202-1204
    • Farfel, Z.1    Bourne, H.R.2
  • 8
    • 0020579521 scopus 로고
    • Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypopara-thyroidism type I: A cause of impaired synthesis of cAMP by intact and broken cells
    • Levine M.A., Eil C., Downs R.W. Jr., Spiegel A.M. Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypopara-thyroidism type I: a cause of impaired synthesis of cAMP by intact and broken cells. J Clin Invest. 72:1983;316-324.
    • (1983) J Clin Invest , vol.72 , pp. 316-324
    • Levine, M.A.1    Eil, C.2    Downs, R.W.3    Spiegel, A.M.4
  • 9
    • 0020419103 scopus 로고
    • Deficient activity of receptor-cyclase coupling protein in transformed lymphoblasts of patients with pseudohypoparathyroidism type I
    • Farfel Z., Abood M.E., Brickman A.S., Bourne H.R. Deficient activity of receptor-cyclase coupling protein in transformed lymphoblasts of patients with pseudohypoparathyroidism type I. J Clin Endocrinol Metab. 55:1982;113-117.
    • (1982) J Clin Endocrinol Metab , vol.55 , pp. 113-117
    • Farfel, Z.1    Abood, M.E.2    Brickman, A.S.3    Bourne, H.R.4
  • 10
    • 0020693406 scopus 로고
    • Deficient adenylate cyclase regulatory protein in renal membranes from a patient with pseudohypoparathyroidism
    • Downs R.W. Jr., Levine M.A., Drezner M.K., Burch W.M. Jr., Spiegel A.M. Deficient adenylate cyclase regulatory protein in renal membranes from a patient with pseudohypoparathyroidism. J Clin Invest. 71:1983;231-235.
    • (1983) J Clin Invest , vol.71 , pp. 231-235
    • Downs, R.W.1    Levine, M.A.2    Drezner, M.K.3    Burch, W.M.4    Spiegel, A.M.5
  • 11
    • 0030004415 scopus 로고    scopus 로고
    • Real-time monitoring of reduced β-adrenergic response in fibroblasts from patients with pseudohypoparathyroidism
    • Ong O.C., Van Dop C., Fung B.K.K. Real-time monitoring of reduced β-adrenergic response in fibroblasts from patients with pseudohypoparathyroidism. Anal Biochem. 238:1996;76-81.
    • (1996) Anal Biochem , vol.238 , pp. 76-81
    • Ong, O.C.1    Van Dop, C.2    Fung, B.K.K.3
  • 12
    • 0021829115 scopus 로고
    • The inhibitory adenylate cyclase coupling protein in pseudohypoparathyroidism
    • Downs R.W., Sekura R.D., Levine M.A., Spiegel A.M. The inhibitory adenylate cyclase coupling protein in pseudohypoparathyroidism. J Clin Endocrinol Metab. 61:1985;351-354.
    • (1985) J Clin Endocrinol Metab , vol.61 , pp. 351-354
    • Downs, R.W.1    Sekura, R.D.2    Levine, M.A.3    Spiegel, A.M.4
  • 13
    • 0022411899 scopus 로고
    • The stimulatory and inhibitory guanine nucleotide-binding proteins of adenylate cyclase in erythrocytes from patients with pseudohypoparathyroidism type I
    • Akita Y., Saito T., Yajima Y., Sakuma S. The stimulatory and inhibitory guanine nucleotide-binding proteins of adenylate cyclase in erythrocytes from patients with pseudohypoparathyroidism type I. J Clin Endocrinol Metab. 61:1985;1012-1017.
    • (1985) J Clin Endocrinol Metab , vol.61 , pp. 1012-1017
    • Akita, Y.1    Saito, T.2    Yajima, Y.3    Sakuma, S.4
  • 15
    • 0008883078 scopus 로고
    • Pseudohypoparathyroidism
    • L.J. DeGroot, M. Besser, & H.G. et al. Burger. Philadelphia: WB Saunders
    • Levine M.A., Spiegel A.M. Pseudohypoparathyroidism. DeGroot L.J., Besser M., Burger H.G., et al. Endocrinology. 3rd ed. 1995;1136-1150 WB Saunders, Philadelphia.
    • (1995) Endocrinology 3rd ed. , pp. 1136-1150
    • Levine, M.A.1    Spiegel, A.M.2
  • 16
    • 0027399429 scopus 로고
    • Imprinting in Albright's hereditary osteodystrophy
    • Davies S.J., Hughes H.E. Imprinting in Albright's hereditary osteodystrophy. J Med Genet. 30:1993;101-103.
    • (1993) J Med Genet , vol.30 , pp. 101-103
    • Davies, S.J.1    Hughes, H.E.2
  • 17
    • 0016705077 scopus 로고
    • Pseudohypoparathyroidism: Disappearance of the resistance to parathyroid extract during treatment with vitamin D
    • Stogmann W., Fischer J.A. Pseudohypoparathyroidism: disappearance of the resistance to parathyroid extract during treatment with vitamin D. Am J Med. 59:1975;140-144.
    • (1975) Am J Med , vol.59 , pp. 140-144
    • Stogmann, W.1    Fischer, J.A.2
  • 18
    • 0018828273 scopus 로고
    • Skeletal responsiveness in pseudohypoparathyroidism: A spectrum of clinical disease
    • Kidd G.S., Schaaf M., Adler R.A., Lassman M.N., Wray H.L. Skeletal responsiveness in pseudohypoparathyroidism: a spectrum of clinical disease. Am J Med. 68:1980;772-781.
    • (1980) Am J Med , vol.68 , pp. 772-781
    • Kidd, G.S.1    Schaaf, M.2    Adler, R.A.3    Lassman, M.N.4    Wray, H.L.5
  • 19
    • 0021878101 scopus 로고
    • Metabolic bone disease in pseudohypoparathyroidism: Radiologic features
    • Burnstein M.I., Kottamasu S.R., Pettifor J.M., et al. Metabolic bone disease in pseudohypoparathyroidism: radiologic features. Radiology. 155:1985;351-356.
    • (1985) Radiology , vol.155 , pp. 351-356
    • Burnstein, M.I.1    Kottamasu, S.R.2    Pettifor, J.M.3
  • 20
    • 0027472418 scopus 로고
    • Pseudohypoparathyroidism with osteitis fibrosa cystica: Direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone
    • Murray T.M., Rao L.G., Wong M.M., et al. Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone. J Bone Miner Res. 8:1993;83-91.
    • (1993) J Bone Miner Res , vol.8 , pp. 83-91
    • Murray, T.M.1    Rao, L.G.2    Wong, M.M.3
  • 21
    • 0030042981 scopus 로고    scopus 로고
    • Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism
    • Ishshalom S., Rao L.G., Levine M.A., et al. Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism. J Bone Miner Res. 11:1996;8-14.
    • (1996) J Bone Miner Res , vol.11 , pp. 8-14
    • Ishshalom, S.1    Rao, L.G.2    Levine, M.A.3
  • 22
    • 0026128007 scopus 로고
    • Pseudohypoparathyroidism: A case report
    • Brown M.D., Aarons G. Pseudohypoparathyroidism: a case report. Pediatr Dentistry. 13:1991;106-109.
    • (1991) Pediatr Dentistry , vol.13 , pp. 106-109
    • Brown, M.D.1    Aarons, G.2
  • 23
    • 0022388064 scopus 로고
    • Infantile hypothyroidism in two sibs: An unusual presentation of pseudohypoparathyroidism Ia
    • Levine M.A., Jap T.S., Hung W. Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism Ia. J Pediatr. 107:1985;919-922.
    • (1985) J Pediatr , vol.107 , pp. 919-922
    • Levine, M.A.1    Jap, T.S.2    Hung, W.3
  • 24
    • 0023937364 scopus 로고
    • Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type Ia
    • Shima M., Nose O., Shimizu K., Seino Y., Yabuuchi H., Saito T. Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type Ia. Eur J Pediatr. 147:1988;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
  • 25
    • 0031732659 scopus 로고    scopus 로고
    • Reproductive dysfunction in women with Albright's hereditary osteodystrophy
    • Namnoum A.B., Merriam G.R., Moses A.M., Levine M.A. Reproductive dysfunction in women with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab. 83:1998;824-829.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 824-829
    • Namnoum, A.B.1    Merriam, G.R.2    Moses, A.M.3    Levine, M.A.4
  • 28
    • 0020627955 scopus 로고
    • Resistance to multiple hormones in patients with PHP: Association with deficient activity of guanine nucleotide regulatory protein
    • Levine M.A., Downs R.W. Jr., Moses A.M., et al. Resistance to multiple hormones in patients with PHP: association with deficient activity of guanine nucleotide regulatory protein. Am J Med. 74:1983;545-556.
    • (1983) Am J Med , vol.74 , pp. 545-556
    • Levine, M.A.1    Downs, R.W.2    Moses, A.M.3
  • 29
    • 0018945589 scopus 로고
    • Multiple abnormalities of anterior pituitary hormone secretion in association with PHP
    • Shapiro M.S., Bernheim J., Gutman A., Arber I., Spitz I.M. Multiple abnormalities of anterior pituitary hormone secretion in association with PHP. J Clin Endocrinol Metab. 51:1980;483-487.
    • (1980) J Clin Endocrinol Metab , vol.51 , pp. 483-487
    • Shapiro, M.S.1    Bernheim, J.2    Gutman, A.3    Arber, I.4    Spitz, I.M.5
  • 30
    • 0022631589 scopus 로고
    • Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient PHP
    • Moses A.M., Weinstock R.S., Levine M.A., Breslau N.A. Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient PHP. J Clin Endocrinol Metab. 62:1986;221-224.
    • (1986) J Clin Endocrinol Metab , vol.62 , pp. 221-224
    • Moses, A.M.1    Weinstock, R.S.2    Levine, M.A.3    Breslau, N.A.4
  • 31
    • 0024992911 scopus 로고
    • Pseudohypoparathyreoidismus und Nebennierrinden-insuffizienz
    • Ridderskamp P., Schlaghecke R. Pseudohypoparathyreoidismus und Nebennierrinden-insuffizienz. Klin Wochenschr. 68:1990;927-931.
    • (1990) Klin Wochenschr , vol.68 , pp. 927-931
    • Ridderskamp, P.1    Schlaghecke, R.2
  • 32
    • 18344418894 scopus 로고
    • Renal resistance to arginine vasopressin in PHP
    • (Abstract)
    • Brickman A.S., Weitzman R.E. Renal resistance to arginine vasopressin in PHP. Clin Res. 26:1978;164A. (Abstract).
    • (1978) Clin Res , vol.26 , pp. 164A
    • Brickman, A.S.1    Weitzman, R.E.2
  • 33
    • 0026079186 scopus 로고
    • Pseudohypoparathyroidism: Its phenotypic variability and associated disorders in a large family
    • Faull C.M., Welbury R.R., Paul B., Kendall-Taylor P. Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family. Q J Med. 78:1991;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
  • 34
    • 0029113971 scopus 로고
    • Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings
    • Scott D.C., Hung W. Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings. J Pediatr Endocrinol Metab. 8:1995;205-207.
    • (1995) J Pediatr Endocrinol Metab , vol.8 , pp. 205-207
    • Scott, D.C.1    Hung, W.2
  • 35
    • 0027768812 scopus 로고
    • Pseudopseudohypoparathyroidism associated with idiopathic growth hormone deficiency. Role of treatment with biosynthetic growth hormone
    • Manfredi R., Zucchini A., Azzaroli L., Manfredi G. Pseudopseudohypoparathyroidism associated with idiopathic growth hormone deficiency. Role of treatment with biosynthetic growth hormone. J Endocrinol Invest. 16:1993;709-713.
    • (1993) J Endocrinol Invest , vol.16 , pp. 709-713
    • Manfredi, R.1    Zucchini, A.2    Azzaroli, L.3    Manfredi, G.4
  • 36
    • 0025845619 scopus 로고
    • Familial growth hormone-releasing hormone deficiency in pseudopseudohypoparathyroidism
    • Stirling H.F., Barr D.G.D., Kelnar C.J.H. Familial growth hormone-releasing hormone deficiency in pseudopseudohypoparathyroidism. Arch Dis Child. 66:1991;533-535.
    • (1991) Arch Dis Child , vol.66 , pp. 533-535
    • Stirling, H.F.1    Barr, D.G.D.2    Kelnar, C.J.H.3
  • 37
    • 0020061545 scopus 로고
    • Albright's hereditary osteodystrophy: A review
    • Fitch N. Albright's hereditary osteodystrophy: a review. Am J Med Genet. 11:1982;11-29.
    • (1982) Am J Med Genet , vol.11 , pp. 11-29
    • Fitch, N.1
  • 38
    • 0027462718 scopus 로고
    • Cutaneous ossification in Albright's hereditary osteodystrophy
    • Trüeb R.M., Panizzon R.G., Burg G. Cutaneous ossification in Albright's hereditary osteodystrophy. Dermatology. 186:1993;205-209.
    • (1993) Dermatology , vol.186 , pp. 205-209
    • Trüeb, R.M.1    Panizzon, R.G.2    Burg, G.3
  • 39
    • 0015173235 scopus 로고
    • Albright's hereditary osteodystrophy with cutaneous bone formation
    • Eyre W.G., Reed W.B. Albright's hereditary osteodystrophy with cutaneous bone formation. Arch Dermatol. 104:1971;634-642.
    • (1971) Arch Dermatol , vol.104 , pp. 634-642
    • Eyre, W.G.1    Reed, W.B.2
  • 40
    • 0017687244 scopus 로고
    • The pattern of shortening of the bone of the hand in PHP and PPHP: A comparison with brachydactyly E, Turner syndrome, and acrodystosis
    • Poznanski A.K., Werder E.A., Giedion A. The pattern of shortening of the bone of the hand in PHP and PPHP: a comparison with brachydactyly E, Turner syndrome, and acrodystosis. Radiology. 123:1977;707-718.
    • (1977) Radiology , vol.123 , pp. 707-718
    • Poznanski, A.K.1    Werder, E.A.2    Giedion, A.3
  • 41
    • 0013806188 scopus 로고
    • Evolution of skeletal lesions in pseudohypoparathyroidism
    • Steinbach H.I., Rudhe U., Jonsson M., Young D.A. Evolution of skeletal lesions in pseudohypoparathyroidism. Radiology. 85:1965;670-676.
    • (1965) Radiology , vol.85 , pp. 670-676
    • Steinbach, H.I.1    Rudhe, U.2    Jonsson, M.3    Young, D.A.4
  • 42
    • 0028057743 scopus 로고
    • Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene
    • Karaplis A.C., Luz A., Glowacki J., et al. Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev. 8:1994;277-289.
    • (1994) Genes Dev , vol.8 , pp. 277-289
    • Karaplis, A.C.1    Luz, A.2    Glowacki, J.3
  • 43
    • 0027968182 scopus 로고
    • Parathyroid hormone-related peptide depleted mice show abnormal epiphyseal cartilage development and altered endochondral bone formation
    • Amizuka N., Warshawsky H., Henderson J.E., Goltzman D., Karaplis A.C. Parathyroid hormone-related peptide depleted mice show abnormal epiphyseal cartilage development and altered endochondral bone formation. J Cell Biol. 126:1994;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
  • 44
    • 0029887927 scopus 로고    scopus 로고
    • Haploinsufficiency of parathyroid hormone-related peptide (PTHrP) results in abnormal postnatal bone development
    • Amizuka N., Karaplis A.C., Henderson J.E., et al. Haploinsufficiency of parathyroid hormone-related peptide (PTHrP) results in abnormal postnatal bone development. Dev Biol. 175:1996;166-176.
    • (1996) Dev Biol , vol.175 , pp. 166-176
    • Amizuka, N.1    Karaplis, A.C.2    Henderson, J.E.3
  • 45
    • 0023698498 scopus 로고
    • Synthetic human parathyroid hormone-(1-34) for the study of pseudohypoparathyroidism
    • Mallette L.E., Kirkland J.L., Gagel R.F., Law W.M. Jr., Heath H. Synthetic human parathyroid hormone-(1-34) for the study of pseudohypoparathyroidism. J Clin Endocrinol Metab. 67:1988;964-972.
    • (1988) J Clin Endocrinol Metab , vol.67 , pp. 964-972
    • Mallette, L.E.1    Kirkland, J.L.2    Gagel, R.F.3    Law, W.M.4    Heath, H.5
  • 46
    • 0024563791 scopus 로고
    • Biochemical markers of bone turnover, intact serum parathyroid hormone and renal calcium excretion in patients with pseudohypoparathyroidism and hypoparathyroidism before and during vitamin D treatment
    • Kruse K., Kracht U., Wohlfart K., Kruse U. Biochemical markers of bone turnover, intact serum parathyroid hormone and renal calcium excretion in patients with pseudohypoparathyroidism and hypoparathyroidism before and during vitamin D treatment. Eur J Pediatr. 148:1989;535-539.
    • (1989) Eur J Pediatr , vol.148 , pp. 535-539
    • Kruse, K.1    Kracht, U.2    Wohlfart, K.3    Kruse, U.4
  • 48
    • 0025922703 scopus 로고
    • sα (GNAS1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2
    • sα (GNAS1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2. Genomics. 10:1991;257-261.
    • (1991) Genomics , vol.10 , pp. 257-261
    • Rao, V.V.N.G.1    Schnittger, S.2    Hansmann, I.3
  • 49
    • 0026077914 scopus 로고
    • Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-13.3 in human by in situ hybridization
    • Levine M.A., Modi W.S., O'Brien S.J. Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-13.3 in human by in situ hybridization. Genomics. 11:1991;478-479.
    • (1991) Genomics , vol.11 , pp. 478-479
    • Levine, M.A.1    Modi, W.S.2    O'Brien, S.J.3
  • 50
    • 0025323257 scopus 로고
    • Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
    • Patten J.L., Johns D.R., Valle D., et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. New Engl J Med. 322:1990;1412-1419.
    • (1990) New Engl J Med , vol.322 , pp. 1412-1419
    • Patten, J.L.1    Johns, D.R.2    Valle, D.3
  • 51
    • 0025195106 scopus 로고
    • sα-subunit gene in Albright hereditary osteodystrophy detected by denaturing gel electrophoresis
    • sα-subunit gene in Albright hereditary osteodystrophy detected by denaturing gel electrophoresis. Proc Natl Acad Sci USA. 87:1990;8287-8290.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 8287-8290
    • Weinstein, L.S.1    Gejman, P.V.2    Friedman, E.3
  • 54
    • 0027210606 scopus 로고
    • Heterogeneous mutations in the gene encoding the α-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy
    • Miric A., Vechio J.D., Levine M.A. Heterogeneous mutations in the gene encoding the α-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab. 76:1993;1560-1568.
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 1560-1568
    • Miric, A.1    Vechio, J.D.2    Levine, M.A.3
  • 56
    • 0028172104 scopus 로고
    • sα mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase
    • sα mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase. J Biol Chem. 269:1994;25387-25391.
    • (1994) J Biol Chem , vol.269 , pp. 25387-25391
    • Schwindinger, W.F.1    Miric, A.2    Zimmerman, D.3    Levine, M.A.4
  • 60
    • 85002461841 scopus 로고
    • s in patients with pseudohypoparathyroidism type Ia
    • (abstract)
    • s in patients with pseudohypoparathyroidism type Ia. J Bone Miner Res. 5:1990;S142. (abstract).
    • (1990) J Bone Miner Res , vol.5 , pp. 142
    • Levine, M.A.1    Deily, J.R.2
  • 63
    • 0031712069 scopus 로고    scopus 로고
    • GNAS1 mutational analysis in pseudohypoparathyroidism
    • Ahmed S.F., Dixon P.H., Bonthron D.T., et al. GNAS1 mutational analysis in pseudohypoparathyroidism. Clin Endocrinol. 49:1998;525-531.
    • (1998) Clin Endocrinol , vol.49 , pp. 525-531
    • Ahmed, S.F.1    Dixon, P.H.2    Bonthron, D.T.3
  • 66
    • 0028068226 scopus 로고
    • Parental origin of transcription from the human GNAS1 gene
    • Campbell R., Gosden C.M., Bonthron D.T. Parental origin of transcription from the human GNAS1 gene. J Med Genet. 31:1994;607-614.
    • (1994) J Med Genet , vol.31 , pp. 607-614
    • Campbell, R.1    Gosden, C.M.2    Bonthron, D.T.3
  • 67
    • 0029778906 scopus 로고    scopus 로고
    • Clinical implications of genetic defects in G proteins: The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy
    • Ringel M.D., Schwindinger W.F., Levine M.A. Clinical implications of genetic defects in G proteins: the molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine. 75:1996;171-184.
    • (1996) Medicine , vol.75 , pp. 171-184
    • Ringel, M.D.1    Schwindinger, W.F.2    Levine, M.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.