Pseudohypoparathyroidism, Albright's Hereditary Osteodystrophy, and Progressive Osseous Heteroplasia: Disorders Caused by Inactivating GNAS Mutations

Endocrinology: Adult and Pediatric, Sixth Edition

Volumn 1, Issue , 2010, Pages 1223-1235

  Bastepe, Murat ^a   Jüppner, Harald ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 85153805612     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-1-4160-5583-9.00065-4     Document Type: Chapter

References (185)

1. F Albright, CH Burnett, PH Smith, et al. (1942) Pseudohypoparathyroidism—an example of “Seabright-Bantam syndrome,”. Endocrinology 30 922-932.
2. AH Tashjian Jr, AG Frantz and JB Lee (1966) Pseudohypoparathyroidism: assays of parathyroid hormone and thyrocalcitonin. Proc Natl Acad Sci U S A 56 1138-1142.
3. S Ish-Shalom, LG Rao, MA Levine, et al. (1996) Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism. J Bone Miner Res 11 8-14.
4. T Murray, E Gomez Rao, MM Wong, et al. (1993) Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone. J Bone Miner Res 8 83-91.
5. M Stone, D Hosking, C Garcia-Himmelstine, et al. (1993) The renal response to exogenous parathyroid hormone in treated pseudohypoparathyroidism. Bone 14 727-735.
6. NA Breslau and RS Weinstock (1988) Regulation of 1,25(OH)2D synthesis in hypoparathyroidism and pseudohypoparathyroidism. Am J Physiol 255 E730-E736.
7. MK Drezner, FA Neelon, M Haussler, et al. (1976) 1,25-Dihydroxycholecalciferol deficiency: the probable cause of hypocalcemia and metabolic bone disease in pseudohypoparathyroidism. J Clin Endocrinol Metab 42 621-628.
8. JJ Braun, JC Birkenhager, TJ Visser, et al. (1981) Lack of response of 1,25-dihydroxycholecalciferol to exogenous parathyroid hormone in a patient with treated pseudohypoparathyroidism. Clin Endocrinol (Oxf) 14 403-407.
9. K Yamaoka, Y Seino, M Ishida, et al. (1981) Effect of dibutyryl adenosine 3′,5′-monophosphate administration on plasma concentrations of 1,25-dihydroxyvitamin D in pseudohypoparathyroidism type I. J Clin Endocrinol Metab 53 1096-1100.
10. MK Drezner and MR Haussler (1979) Normocalcemic pseudohypoparathyroidism, Association with normal vitamin D3 metabolism. Am J Med 66 503-508.
11. V Balachandar, J Pahuja, VT Maddaiah, et al. (1975) Pseudohypoparathyroidism with normal serum calcium level. Am J Dis Child 129 1092-1095.
12. NA Breslau, DD Notman, JM Canterbury, et al. (1980) Studies on the attainment of normocalcemia in patients with pseudohypoparathyroidism. Am J Med 68 856-860.
13. A Linglart, M Bastepe and H Jüppner (2007) Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus. Clin Endocrinol (Oxf) 67 822-831.
14. Y Tamada, S Kanda, H Suzuki, et al. (2008) A pseudohypoparathyroidism type Ia patient with normocalcemia. Endocr J 55 169-173.
15. H Jüppner, AB Abou-Samra, MW Freeman, et al. (1991) A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide. Science 254 1024-1026.
16. TJ Gardella and H Jüppner (2001) Molecular properties of the PTH/PTHrP receptor. Trends Endocrinol Metab 12 210-217.
17. AB Abou-Samra, H Jüppner, T Force, et al. (1992) Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol triphosphates and increases intracellular free calcium. Proc Natl Acad Sci U S A 89 2732-2736.
18. LR Chase, GL Melson and GD Aurbach (1969) Pseudohypoparathyroidism: defective excretion of 3′,5′-AMP in response to parathyroid hormone. J Clin Invest 48 1832-1844.
19. M Drezner, FA Neelon and HE Lebovitz (1973) Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal. N Engl J Med 289 1056-1060.
20. SJ Siejka, WV Knezevic and PT Pullan (1988) Dystonia and intracerebral calcification: pseudohypoparathyroidism presenting in an eleven-year-old girl. Aust N Z J Med 18 607-609.
21. L Dure St and HG Mussell (1998) Paroxysmal dyskinesia in a patient with pseudohypoparathyroidism. Mov Disord 13 746-748.
22. CW Huang, YC Chen and JJ Tsai (2005) Paroxysmal dyskinesia with secondary generalization of tonic-clonic seizures in pseudohypoparathyroidism. Epilepsia 46 164-165.
23. DK Prashantha and PK Pal (2009) Pseudohypoparathyroidism manifesting with paroxysmal dyskinesias and seizures. Mov Disord 24 623-624.
24. M Kinoshita, T Komori, T Ohtake, et al. (1997) Abnormal calcium metabolism in myotonic dystrophy as shown by the Ellsworth-Howard test and its relation to CTG triplet repeat length. J Neurol 244 613-622.
25. FH Mahmud, A Linglart, M Bastepe, et al. (2005) Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. Pediatrics 115 e242-e244.
26. M Bastepe, JE Pincus, T Sugimoto, et al. (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.
27. U Unluturk, A Harmanci, M Babaoglu, et al. (2008) Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. Am J Med Sci 336 84-90.
28. R Windeck, U Menken, G Benker, et al. (1981) Basal ganglia calcification in pseudohypoparathyroidism type II. Clin Endocrinol (Oxf) 15 57-63.
29. H Chen, F Tseng, D Su, et al. (2005) Multiple intracranial calcifications and spinal compressions: rare complications of type la pseudohypoparathyroidism. J Endocrinol Invest 28 646-650.
30. F Illum and E Dupont (1985) Prevalences of CT-detected calcification in the basal ganglia in idiopathic hypoparathyroidism and pseudohypoparathyroidism. Neuroradiology 27 32-37.
31. Y Manabe, M Araki, K Takeda, et al. (1989) Pseudohypoparathyroidism with striopallidodentate calcification—a case report and review of the literature. Jpn J Med 28 391-395.
32. DW Pearson, WF Durward, I Fogelman, et al. (1981) Pseudohypoparathyroidism presenting as severe Parkinsonism. Postgrad Med J 57 445-447.
33. H Saito, M Saito, K Saito, et al. (1989) Subclinical pseudohypoparathyroidism type II: evidence for failure of physiologic adjustment in calcium metabolism during pregnancy. Am J Med Sci 297 247-250.
34. SB Zachariah, B Zachariah, N Antonios, et al. (1991) Pseudohypoparathyroidism and cerebrovascular disease with dural calcification. J Fla Med Assoc 78 26-28.
35. M Narang, R Salota and SS Sachdev (2006) Neonatal pseudohypoparathyroidism. Indian J Pediatr 73 97-98.
36. S Sajitha, PN Krishnamoorthy and UV Shenoy (2003) Pseudohypoparathyroidism in newborn—a rare presentation. Indian J Pediatr 40 47-49.
37. R Tsang, P Venkataraman, M Ho, et al. (1984) The development of pseudohypoparathyroidism, Involvement of progressively increasing serum parathyroid hormone concentrations, increased 1,25-dihydroxyvitamin D concentrations, and “migratory” subcutaneous calcifications. Am J Dis Child 138 654-658.
38. DG Barr, HF Stirling and JA Darling (1994) Evolution of pseudohypoparathyroidism: an informative family study. Arch Dis Child 70 337-338.
39. A Linglart, RC Gensure, RC Olney, et al. (2005) A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet 76 804-814.
40. IM Gelfand, EA Eugster and LA Dimeglio (2006) Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series. J Pediatr 149 877-880.
41. Z Farfel (1999) Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib. J Bone Miner Res 14 1016.
42. AK Poznanski, EA Werder, A Giedion, et al. (1977) The pattern of shortening of the bones of the hand in PHP and PPHP—a comparison with brachydactyly E, Turner syndrome, and acrodysostosis. Radiology 123 707-718.
43. RM Archibald, N Finby and F De Vito (1959) Endocrine significance of short metacarpals. J Clin Endocrinol Metab 19 1312-1322.
44. A Linglart, MJ Mahon, MA Kerachian, et al. (2006) Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3′,5′-monophosphate formation mediated by human XLαs. Endocrinology 147 2253-2262.
45. MA Levine, RW Downs Jr, AM Moses, et al. (1983) Resistance to multiple hormones in patients with pseudohypoparathyroidism, Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 74 545-556.
46. E Mallet, P Carayon, S Amr, et al. (1982) Coupling defect of thyrotropin receptor and adenylate cyclase in a pseudohypoparathyroid patient. J Clin Endocrinol Metab 54 1028-1032.
47. D Yu, S Yu, V Schuster, et al. (1999) Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 84 3254-3259.
48. MA Levine, TS Jap and W Hung (1985) Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. J Pediatr 107 919-922.
49. Y Weisman, A Golander, Z Spirer, et al. (1985) Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism. J Pediatr 107 413-415.
50. S Yokoro, M Matsuo, T Ohtsuka, et al. (1990) Hyperthyrotropinemia in a neonate with normal thyroid hormone levels: the earliest diagnostic clue for pseudohypoparathyroidism. Biol Neonate 58 69-72.
51. JI Wolfsdorf, RL Rosenfield, VS Fang, et al. (1978) Partial gonadotrophin-resistance in pseudohypoparathyroidism. Acta Endocrinol (Copenh) 88 321-328.
52. G Mantovani, M Maghnie, G Weber, et al. (2003) Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gs alpha gene. J Clin Endocrinol Metab 88 4070-4074.
53. EL Germain-Lee, J Groman, JL Crane, et al. (2003) Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 88 4059-4069.
54. AM Moses, RS Weinstock, MA Levine, et al. (1986) Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient pseudohypoparathyroidism. J Clin Endocrinol Metab 62 221-224.
55. HF Stirling, DGD Barr and CJH Kelnar (1991) Familial growth hormone releasing factor deficiency in pseudohypoparathyroidism. Arch Dis Child 66 533-535.
56. AB Namnoum, GR Merriam, AM Moses, et al. (1998) Reproductive dysfunction in women with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 83 824-829.
57. LS Weinstein (1998) Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency. AM Spiegel,(Ed.) G Proteins, Receptors, and Disease Totowa, NJ: Humana Press 23-56.
58. MA Levine (1999) Pseudohypoparathyroidism: from bedside to bench and back. J Bone Miner Res 14 1255-1260.
59. LS Weinstein, PV Gejman, E Friedman, et al. (1990) Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A 87 8287-8290.
60. JL Patten, DR Johns, D Valle, et al. (1990) Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 322 1412-1419.
61. YC Ma, J Huang, S Ali, et al. (2000) Src tyrosine kinase is a novel direct effector of G proteins. Cell 102 635-646.
62. A Yatani, Y Imoto, J Codina, et al. (1988) The stimulatory G protein of adenylyl cyclase, Gs, also stimulates dihydropyridine-sensitive Ca2+ channels. Evidence for direct regulation independent of phosphorylation by cAMP-dependent protein kinase or stimulation by a dihydropyridine agonist. J Biol Chem 263 9887-9895.
63. R Mattera, MP Graziano, A Yatani, et al. (1989) Splice variants of the alpha subunit of the G protein Gs activate both adenylyl cyclase and calcium channels. Science 243 804-807.
64. MA Aldred, S Aftimos, C Hall, et al. (2002) Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy. Am J Med Genet 113 167-172.
65. MA Levine, TS Jap, RS Mauseth, et al. (1986) Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab 62 497-502.
66. A Miric, JD Vechio and MA Levine (1993) Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 76 1560-1568.
67. Z Farfel and HR Bourne (1980) Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism. J Clin Endocrinol Metab 51 1202-1204.
68. Z Farfel, VM Brothers, AS Brickman, et al. (1981) Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. Proc Natl Acad Sci U S A 78 3098-3102.
69. HR Bourne, HR Kaslow, AS Brickman, et al. (1981) Fibroblast defect in pseudohypoparathyroidism, type I: reduced activity of receptor-cyclase coupling protein. J Clin Endocrinol Metab 53 636-640.
70. AM Spiegel, MA Levine, GD Aurbach, et al. (1982) Deficiency of hormone receptor-adenylate cyclase coupling protein: basis for hormone resistance in pseudohypoparathyroidism. Am J Physiol 243 E37-E42.
71. HJ Motulsky, RJ Hughes, AS Brickman, et al. (1982) Platelets of pseudohypoparathyroid patients: evidence that distinct receptor-cyclase coupling proteins mediate stimulation and inhibition of adenylate cyclase. Proc Natl Acad Sci U S A 79 4193-4197.
72. Z Farfel, ME Abood, AS Brickman, et al. (1982) Deficient activity of receptor-cyclase coupling protein is transformed lymphoblasts of patients with pseudohypoparathyroidism, type I. J Clin Endocrinol Metab 55 113-117.
73. MA Levine, C Eil, RW Downs Jr, et al. (1983) Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. A cause of impaired synthesis of 3′,5′-cyclic AMP by intact and broken cells. J Clin Invest 72 316-324.
74. MA Levine, TG Ahn, SF Klupt, et al. (1988) Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. Proc Natl Acad Sci U S A 85 617-621.
75. JL Patten and MA Levine (1990) Immunochemical analysis of the α-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 71 1208-1214.
76. A Carter, C Bardin, R Collins, et al. (1987) Reduced expression of multiple forms of the α subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type Ia. Proc Natl Acad Sci U S A 84 7266-7269.
77. Z Farfel, AS Brickman, HR Kaslow, et al. (1980) Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism. N Engl J Med 303 237-242.
78. MA Levine, RW Downs Jr, M Singer, et al. (1980) Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun 94 1319-1324.
79. RW Downs Jr, MA Levine, MK Drezner, et al. (1983) Deficient adenylate cyclase regulatory protein in renal membranes from a patient with pseudohypoparathyroidism. J Clin Invest 71 231-235.
80. T Iiri, P Herzmark, JM Nakamoto, et al. (1994) Rapid GDP release from Gs in patients with gain and loss of function. Nature 371 164-168.
81. N Makita, J Sato, P Rondard, et al. (2007) Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle. Proc Natl Acad Sci U S A 104 17424-17429.
82. A Linglart, JC Carel, M Garabedian, et al. (2002) GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab 87 189-197.
83. PV Gejman, LS Weinstein, M Martinez, et al. (1991) Genetic mapping of the Gs-α subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis. Genomics 9 782-783.
84. VV Rao, S Schnittger and I Hansmann (1991) G protein Gs alpha (GNAS 1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2. Genomics 10 257-261.
85. MA Levine, WS Modi and SJ O’Brien (1991) Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-q13.3 in human by in situ hybridization. Genomics 11 478-479.
86. T Kozasa, H Itoh, T Tsukamoto, et al. (1988) Isolation and characterization of the human Gsα gene. Proc Natl Acad Sci U S A 85 2081-2085.
87. P Bray, A Carter, C Simons, et al. (1986) Human cDNA clones for four species of G alpha s signal transduction protein. Proc Natl Acad Sci U S A 83 8893-8897.
88. JD Robishaw, MD Smigel and AG Gilman (1986) Molecular basis for two forms of the G protein that stimulates adenylate cyclase. J Biol Chem 261 9587-9590.
89. PC Sternweis, JK Northup, MD Smigel, et al. (1981) The regulatory component of adenylate cyclase: purification and properties. J Biol Chem 256 11517-11526.
90. TF Walseth, HJ Zhang, LK Olson, et al. (1989) Increase in Gs and cyclic AMP generation in HIT cells: evidence that the 45-kDa alpha-subunit of Gs has greater functional activity than the 52-kDa alpha-subunit. J Biol Chem 264 21106-21111.
91. MP Graziano, M Freissmuth and AG Gilman (1989) Expression of Gs alpha in Escherichia coli: purification and properties of two forms of the protein. J Biol Chem 264 409-418.
92. R Seifert, K Wenzel-Seifert, TW Lee, et al. (1998) Different effects of Gsalpha splice variants on beta2-adrenoreceptor-mediated signaling: the beta2-adrenoreceptor coupled to the long splice variant of Gsalpha has properties of a constitutively active receptor. J Biol Chem 273 5109-5116.
93. P Kvapil, J Novotny, P Svoboda, et al. (1994) The short and long forms of the alpha subunit of the stimulatory guanine-nucleotide-binding protein are unequally redistributed during (−)-isoproterenol-mediated desensitization of intact S49 lymphoma cells. Eur J Biochem 226 193-199.
94. A el Jamali, N Rachdaoui, C Jacquemin, et al. (1996) Long-term effect of forskolin on the activation of adenylyl cyclase in astrocytes. J Neurochem 67 2532-2539.
95. C Bourgeois, P Duc-Goiran, B Robert, et al. (1996) G protein expression in human fetoplacental vascularization: functional evidence for Gs alpha and Gi alpha subunits. J Mol Cell Cardiol 28 1009-1021.
96. S Thiele, R Werner, W Ahrens, et al. (2007) A disruptive mutation in exon 3 of the GNAS gene with Albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. J Clin Endocrinol Metab 92 1764-1768.
97. R Ischia, P Lovisetti-Scamihorn, R Hogue-Angeletti, et al. (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.
98. BE Hayward, V Moran, L Strain, et al. (1998) Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci U S A 95 15475-15480.
99. J Peters, SF Wroe, CA Wells, et al. (1999) A cluster of oppositely imprinted transcripts at the GNAS locus in the distal imprinting region of mouse chromosome 2. Proc Natl Acad Sci U S A 96 3830-3835.
100. P Lovisetti-Scamihorn, R Fischer-Colbrie, B Leitner, et al. (1999) Relative amounts and molecular forms of NESP55 in various bovine tissues. Brain Res 829 99-106.
101. U Weiss, R Ischia, S Eder, et al. (2000) Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein. Neuroendocrinology 71 177-186.
102. R Bauer, C Weiss, J Marksteiner, et al. (1999) The new chromogranin-like protein NESP55 is preferentially localized in adrenaline-synthesizing cells of the bovine and rat adrenal medulla. Neurosci Lett 263 13-16.
103. JY Li, P Lovisetti-Scamihorn, R Fischer-Colbrie, et al. (2002) Distribution and intraneuronal trafficking of a novel member of the chromogranin family, NESP55, in the rat peripheral nervous system. Neuroscience 110 731-745.
104. R Fischer-Colbrie, S Eder, P Lovisetti-Scamihorn, et al. (2002) Neuroendocrine secretory protein 55: a novel marker for the constitutive secretory pathway. Ann N Y Acad Sci 971 317-322.
105. A Plagge, AR Isles, E Gordon, et al. (2005) Imprinted Nesp55 influences behavioral reactivity to novel environments. Mol Cell Biol 25 3019-3026.
106. RH Kehlenbach, J Matthey and WB Huttner (1994) XLαs is a new type of G protein (Erratum in Nature 375:253, 1995). Nature 372 804-809.
107. B Hayward, M Kamiya, L Strain, et al. (1998) The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci U S A 95 10038-10043.
108. M Klemke, H Pasolli, R Kehlenbach, et al. (2000) Characterization of the extra-large G protein alpha-subunit XLalphas, II, Signal transduction properties. J Biol Chem 275 33633-33640.
109. M Bastepe, Y Gunes, B Perez-Villamil, et al. (2002) Receptor-mediated adenylyl cyclase activation through XLalphas, the extra-large variant of the stimulatory G protein alpha-subunit. Mol Endocrinol 16 1912-1919.
110. A Plagge, E Gordon, W Dean, et al. (2004) The imprinted signaling protein XLalphas is required for postnatal adaptation to feeding. Nat Genet 36 818-826.
111. M Chen, O Gavrilova, J Liu, et al. (2005) Alternative Gnas gene products have opposite effects on glucose and lipid metabolism. Proc Natl Acad Sci U S A 102 7386-7391.
112. EL Germain-Lee, W Schwindinger, JL Crane, et al. (2005) A mouse model of Albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. Endocrinology 146 4697-4709.
113. A Swaroop, N Agarwal, JR Gruen, et al. (1991) Differential expression of novel Gs alpha signal transduction protein cDNA species. Nucleic Acids Res 19 4725-4729.
114. Y Ishikawa, C Bianchi, B Nadal-Ginard, et al. (1990) Alternative promoter and 5′ exon generate a novel Gsα mRNA. J Biol Chem 265 8458-8462.
115. B Hayward and D Bonthron (2000) An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet 9 835-841.
116. SF Wroe, G Kelsey, JA Skinner, et al. (2000) An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse GNAS locus. Proc Natl Acad Sci U S A 97 3342-3346.
117. M Bastepe, LF Fröhlich, A Linglart, et al. (2005) Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type-Ib. Nat Genet 37 25-37.
118. C Coombes, P Arnaud, E Gordon, et al. (2003) Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse GNAS imprinted locus. Mol Cell Biol 23 5475-5488.
119. J Liu, S Yu, D Litman, et al. (2000) Identification of a methylation imprint mark within the mouse GNAS locus. Mol Cell Biol 20 5808-5817.
120. CM Williamson, ST Ball, WT Nottingham, et al. (2004) A cis-acting control region is required exclusively for the tissue-specific imprinting of GNAS. Nat Genet 36 894-899.
121. CM Williamson, MD Turner, ST Ball, et al. (2006) Identification of an imprinting control region affecting the expression of all transcripts in the GNAS cluster. Nat Genet 38 350-355.
122. J Liu, M Chen, C Deng, et al. (2005) Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit. Proc Natl Acad Sci U S A 102 5513-5518.
123. H Zheng, G Radeva, JA McCann, et al. (2001) Gαs transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 86 4627-4629.
124. R Campbell, CM Gosden and DT Bonthron (1994) Parental origin of transcription from the human GNAS1 gene. J Med Genet 31 607-614.
125. G Mantovani, S Bondioni, M Locatelli, et al. (2004) Biallelic expression of the Gsalpha gene in human bone and adipose tissue. J Clin Endocrinol Metab 89 6316-6319.
126. S Yu, D Yu, E Lee, et al. (1998) Variable and tissue-specific hormone resistance in heterotrimeric Gs protein α-subunit (Gsα) knockout mice is due to tissue-specific imprinting of the Gsα gene. Proc Natl Acad Sci U S A 95 8715-8720.
127. B Hayward, A Barlier, M Korbonits, et al. (2001) Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 107 R31-R36.
128. G Mantovani, E Ballare, E Giammona, et al. (2002) The Gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 87 4736-4740.
129. A Sakamoto, J Liu, A Greene, et al. (2004) Tissue-specific imprinting of the G protein Gsalpha is associated with tissue-specific differences in histone methylation. Hum Mol Genet 13 819-828.
130. F Albright, AP Forbes and PH Henneman (1952) Pseudo-pseudohypoparathyroidism. Trans Assoc Am Physicians 65 337-350.
131. AJ Davies and HE Hughes (1993) Imprinting in Albright's hereditary osteodystrophy. J Med Genet 30 101-103.
132. HM Kronenberg (2003) Developmental regulation of the growth plate. Nature 423 332-336.
133. M Bastepe, LS Weinstein, N Ogata, et al. (2004) Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci U S A 101 14794-14799.
134. DN Long, S McGuire, MA Levine, et al. (2007) Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. J Clin Endocrinol Metab 92 1073-1079.
135. M Mouallem, M Shaharabany, N Weintrob, et al. (2008) Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. Clin Endocrinol (Oxf) 68 233-239.
136. FS Kaplan, R Craver, GD MacEwen, et al. (1994) Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification, Two new case reports and follow-up of three previously reported cases. J Bone Joint Surg Am 76 425-436.
137. FS Kaplan and EM Shore (2000) Progressive osseous heteroplasia. J Bone Miner Res 15 2084-2094.
138. G Buyse, J Silberstein, N Goemans, et al. (1995) Fibrodysplasia ossificans progressiva: still turning into wood after 300 years? Eur J Pediatr 154 694-699.
139. EM Shore and FS Kaplan (2008) Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP). Bone 43 427-433.
140. MC Eddy, SM De Beur, SM Yandow, et al. (2000) Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. J Bone Miner Res 15 2074-2083.
141. GL Yeh, S Mathur, A Wivel, et al. (2000) GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis. J Bone Miner Res 15 2063-2073.
142. EM Shore, J Ahn, S Jan de Beur, et al. (2002) Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med 346 99-106.
143. LS Weinstein, S Yu, DR Warner, et al. (2001) Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 22 675-705.
144. SA Lietman, C Ding, DW Cooke, et al. (2005) Reduction in Gsalpha induces osteogenic differentiation in human mesenchymal stem cells. Clin Orthop Relat Res 434 231-238.
145. Y Zhao and S Ding (2007) A high-throughput siRNA library screen identifies osteogenic suppressors in human mesenchymal stem cells. Proc Natl Acad Sci U S A 104 9673-9678.
146. K Bertaux, O Broux, C Chauveau, et al. (2006) Runx2 regulates the expression of GNAS on SaOs-2 cells. Bone 38 943-950.
147. NS Adegbite, M Xu, FS Kaplan, et al. (2008) Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. Am J Med Genet 146A 1788-1796.
148. MG Peterman and JL Garvey (1949) Pseudohypoparathyroidism; case report. Pediatrics 4 790.
149. TB Reynolds, G Jacobson, HA Edmondson, et al. (1952) Pseudohypoparathyroidism: report of a case showing bony demineralization. J Clin Endocrinol Metab 12 560.
150. H Elrick, F Albright, FC Bartter, et al. (1950) Further studies on pseudo-hypoparathyroidism: report of four new cases. Acta Endocrinol 5 199-225.
151. JM Costello and CE Dent (1963) Hypo-hyperparathyroidism. Arch Dis Child 38 397-407.
152. EH Allen, FJC Millard and JR Nassim (1968) Hypo-hyperparathyroidism. Arch Dis Child 43 295-301.
153. B Frame, CA Hanson, HM Frost, et al. (1972) Renal resistance to parathyroid hormone with osteitis fibrosa: “pseudohypohyperparathyroidism.”. Am J Med 52 311-321.
154. H Jüppner, E Schipani, M Bastepe, et al. (1998) The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci U S A 95 11798-11803.
155. M Bastepe, AH Lane and H Jüppner (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.
156. J Liu, B Erlichman and LS Weinstein (2003) The stimulatory G protein α-subunit Gsα is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 88 4336-4341.
157. G Mantovani, S Bondioni, A Linglart, et al. (2007) Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 92 3738-3742.
158. Deleted in proofs.
159. E Laspa, M Bastepe, H Jüppner, et al. (2004) Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance. J Clin Endocrinol Metab 89 5942-5947.
160. T Pepersack, N Jabbour, M Fuss, et al. (1989) Hyperuricemia and renal handling of urate in primary hyperparathyroidism. Nephron 53 349-352.
161. J Westerdahl, S Valdemarsson, P Lindblom, et al. (2001) Urate and arteriosclerosis in primary hyperparathyroidism. Clin Endocrinol (Oxf) 54 805-811.
162. WI Wu, WF Schwindinger, LF Aparicio, et al. (2001) Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of Gαs: a cause of pseudohypoparathyroidism type Ib. J Biol Chem 276 165-171.
163. C Silve, A Santora, N Breslau, et al. (1986) Selective resistance to parathyroid hormone in cultured skin fibroblasts from patients with pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 62 640-644.
164. E Schipani, LS Weinstein, C Bergwitz, et al. (1995) 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.
165. F Suarez, JJ Lebrun, D Lecossier, et al. (1995) Expression and modulation of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type Ib pseudohypoparathyroidism. J Clin Endocrinol Metab 80 965-970.
166. S Fukumoto, M Suzawa, Y Takeuchi, et al. (1996) Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 81 2554-2558.
167. S Jan de Beur, C Ding, M LaBuda, et al. (2000) Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes. J Clin Endocrinol Metab 85 2239-2246.
168. S Blomstrand, I Claësson and J Säve-Söderbergh (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 15 141-143.
169. J Liu, D Litman, M Rosenberg, et al. (2000) A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest 106 1167-1174.
170. S Jan de Beur, C Ding, E Germain-Lee, et al. (2003) Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet 73 314-322.
171. M Bastepe, LF Fröhlich, GN Hendy, et al. (2003) Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 112 1255-1263.
172. J Liu, JG Nealon and LS Weinstein (2005) Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet 14 95-102.
173. GP de Nanclares, E Fernandez-Rebollo, I Santin, et al. (2007) Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 92 2370-2373.
174. LF Fröhlich, M Bastepe, D Ozturk, et al. (2007) Lack of GNAS epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. Endocrinology 148 2925-2935.
175. Chillambhi S, Turan S, Hwang D-Y, et al: Deletion of the GNAS antisense transcript results in parent-of-origin specific GNAS imprinting defects and phenotypes including PTH-resistance, Presented at: 30th Annual Meeting of the American Society of Bone and Mineral Research, Montreal, September 12–26, 2008. Abstract No, 1052.
176. M Chotalia, SA Smallwood, N Ruf, et al. (2009) Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev 23 105-117.
177. V Mariot, S Maupetit-Mehouas, C Sinding, et al. (2008) A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance. J Clin Endocrinol Metab 93 661-665.
178. C van Dop (1989) Pseudohypoparathyroidism: clinical and molecular aspects. Semin Nephrol 9 168-178.
179. K Kruse and W Kustermann (1987) Evidence for transient peripheral resistance to parathyroid hormone in premature infants. Acta Paediatr Scand 76 115-118.
180. CT Lee, WY Tsai, YC Tung, et al. (2008) Transient pseudohypoparathyroidism as a cause of late-onset hypocalcemia in neonates and infants. J Formos Med Assoc 107 806-810.
181. S Manzar (2001) Transient pseudohypoparathyroidism and neonatal seizure. J Trop Pediatr 47 113-114.
182. K Kruse, U Kracht, K Wohlfart, et al. (1989) 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 148 535-539.
183. DS Rao, AM Parfitt, M Kleerekoper, et al. (1985) Dissociation between the effects of endogenous parathyroid hormone on adenosine 3′,5′-monophosphate generation and phosphate reabsorption in hypocalcemia due to vitamin D depletion: an acquired disorder resembling pseudohypoparathyroidism type II. J Clin Endocrinol Metab 61 285-290.
184. T Srivastava and US Alon (2002) Stage I vitamin D-deficiency rickets mimicking pseudohypoparathyroidism type II. Clin Pediatr (Phila) 41 263-268.
185. M Shriraam, A Bhansali and P Velayutham (2003) Vitamin D deficiency masquerading as pseudohypoparathyroidism type 2. J Assoc Physicians India 51 619-620.