Parathyroid Disorders

Pediatric Bone: Biology & Diseases

Volumn , Issue , 2003, Pages 485-508

  Bastepe, Murat ^a   Jüppner, Harald ^a   Thakker, Rajesh V ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84902762300     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012286551-0/50022-1     Document Type: Chapter

References (212)

1. Naylor S.L., Sakaguchi A.U., Szoka P., et al. Human parathyroid hormone gene (PTH) is on the short arm of chromosome 11. Somatic Cell Gene 1983, 9:609-616.
2. Vasicek T., Mcdevitt B.E., Freeman M.W., Potts J.T., Rich A., Kronenberg H.M. Nucleotide sequence of genomic DNA encoding human parathyroid hormone. Proc. Natl. Acad. Sci. USA 1983, 80:2127-2131.
3. 3. J.Biol. Chem. 1989, 263:2203-2208.
4. Demay M.B., Kiernan M.S., Deluca H.F., Kronenberg H.M. Sequences in the human parathyroid hormone gene that bind the 1,25-dihydroxyvitamin D3 receptor and mediate transcriptional repression in response to 1,25-dih. Proc. Natl. Acad. Sci. USA 1992, 89(17):8097-8101.
5. Naveh-Many T., Rahaminov R., Livini N., Silver J. Parathyroid cell proliferation in normal and chronic renal failure in rats. The effects of calcium, phosphate, and vitamin D. J.Clin. Invest. 1995, 96:1786-1793.
6. Almaden Y., Canalejo A., Hernandez A., et al. Direct effect of phosphorus on PTH secretion from whole rat parathyroid glands in vitro. J.Bone Miner. Res. 1996, 11:970-976.
7. Silver J., Kronenberg H.M. Parathyroid hormone-Molecular biology and regulation. Principles of Bone Biology 1996, 325-346. J.P. Bilezikian, L.G. Raisz, G.A. Rodan (Eds.).
8. Slatopolsky E., Finch J., Denda M., et al. Phosphorus restriction prevents parathyroid gland growth. High phosphorus directly stimulates PTH secretion in vitro. J.Clin. Invest. 1996, 97:2534-2540. Academic Press, New York.
9. Russell J., Lettieri D., Sherwood L.M. Direct regulation by calcium of cytoplasmic messenger ribonucleic acid coding for pre-proparathyroid hormone in isolated bovine parathyroid cells. J.Clin. Invest. 1983, 72:1851-1855.
10. in vivo in the rat. Dominant role of 1,25-dihydroxyvitami. Endocrinology 1989, 125:275-280.
11. Kemper B., Habener J.F., Mulligan R.C., et al. Preproparathyroid hormone: A direct translation product of parathyroid messenger RNA. Proc. Natl. Acad. Sci. USA 1974, 71:3731-3735.
12. Broadus A.E., Stewart A.F. Parathyroid hormone-related protein: Structure, processing, and physiological actions. The Parathyroids. Basic and Clinical Concepts 1994, 259-294. Raven Press, New York. J.P. Bilezikian, M.A. Levine, R. Marcus (Eds.).
13. Jüppner H., Gardella T.J., Brown E.M., Kronenberg H.M., Potts J.T. Parathyroid hormone and parathyroid hormone-related peptide in the regulation of calcium homeostasis and bone development. Endocrinology 2000, 969-998. Saunders, New York. L.J. DeGroot, J. Jameson (Eds.).
14. Jiippner H., Abou-Samra A.B., Freeman M.W., et al. A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide. Science 1991, 254:1024-1026.
15. Abou-Samra A.B., Jüppner H., Force T., et al. Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: A single receptor stim. Proc. Natl. Acad. Sci. USA 1992, 89:2732-2736.
16. Gelbert L., Schipani E., Jüppner H., et al. Chromosomal location of the parathyroid hormone/parathyroid hormone-related protein receptor gene to human chromosome 3p21.2-p24.2. J.Clin. Endocrinol. Metab. 1994, 79:1046-1048.
17. Pausova Z., Bourdon J., Clayton D., et al. Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR106) cell line: Chromosomal assignment o. Genomics 1994, 20:20-26.
18. Usdin T.B., Hoare S.R.J., Wang T., Mezey E., Kowalak J.A. Tip39: A new neuropeptide and PTH2-receptor agonist from hypothalamus. Nature Neurosci. 1996, 2:941-943.
19. Usdin T.B., Gruber C., Bonner T.I. Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2 receptor. J.Biol. Chem. 1995, 270:15455-15458.
20. Gardella T.J., Luck M.D., Jensen G.S., Usdin T.B., Jüppner H. Converting parathyroid hormone-related peptide (PTHrP) into a potent PTH-2 receptor agonist. J.Biol. Chem. 1996, 271:19888-19893.
21. Hoare S.R., Bonner T.I., Usdin T.B. Comparison of rat and human parathyroid hormone 2 (PTH2) receptor activation: PTH is a low potency partial agonist at the rat PTH2 receptor. Endocrinology 1999, 140:4419-4425.
22. Hoare S.R., Clark J.A., Usdin T.B. Molecular determinants of tuberoinfundibular peptide of 39 residues (TIP39) selectivity for the parathyroid hormone (PTH) 2 receptor: N-terminal truncation of. J.Biol. Chem. 2000, 275:27274-27283.
23. Jonsson K., John M., Gensure R., Gardella T., Jiippner H. TIP39 binds to the PTH/PTHrP receptor, but functions as an antagonist. Endocrinology 2001, 142:704-709.
24. Usdin T.B., Bonner T.I., Harta G., Mezey E. Distribution of PTH-2 receptor messenger RNA in rat. Endocrinology 1996, 137:4285-4297.
25. Kronenberg H.M., Lanske B., Kovacs C.S., et al. Functional analysis of the PTH/PTHrP network of ligands and receptors. Recent Prog. Horm. Res. 1998, 53:283-301.
26. Schipani E., Lanske B., Hunzelman J. Targeted expression of constitutively active PTH/PTHrP receptors delays endochondral bone formation and rescues PTHrP-less mice. Proc. Natl. Acad. Sci. USA 1997, 94:13689-13694.
27. Chung U.I., Lanske B., Lee K., Li E., Kronenberg H.M. The parathyroid hormone/parathyroid hormone-related peptide receptor coordinates endochondral bone development by directly controlling chondrocyte differentia. Proc. Natl. Acad. Sci. USA 1998, 95:13030-13035.
28. Lanske B., Amling M., Neff L., Guiducci J., Baron R., Kronenberg H. Ablation of the PTHrP gene or the PTH/PTHrP receptor gene leads to distinct abnormalities in bone development. J.Clin. Invest. 1999, 104:399-407.
29. Arnold A., Horst S.A., Gardella T.J., Baba H., Levine M.A., Kronenberg H.M. Mutation of the signal peptideencoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J.Clin. Invest. 1990, 86:1084-1087.
30. Karaplis A.C., Lim S.K., Baba H., Arnold A., Kronenberg H.M. Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein. J.Biol. Chem. 1995, 270:1629-1635.
31. Parkinson D., Shaw N., Himsworth R., Thakker R. Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism. Hum. Genet. 1993, 91:281-284.
32. Sunthornthepvarakul T., Churesigaew S., Ngowngarmratana S. A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. J.Clin. Endocrinol. Metab. 1999, 84(10):3792-3796.
33. Parkinson D., Thakker R. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nature Genet. 1992, 1:149-153.
34. Von Heijne G. Patterns of amino acids near signal-sequence cleavage sites. Eur. J. Biochem. 1983, 133:17-21.
35. Peden V. True idiopathic hypoparathyroidism as a sex-linked recessive trait. Am. J. Hum. Genet. 1960, 12:323-337.
36. Whyte M., Weldon V. Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. J.Pediatr. 1981, 99:611-628.
37. Whyte M., Kim G., Kosanovich M. Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism. J.Paediatr. 1986, 109:915.
38. Mumm S., Whyte M.P., Thakker R.V., Buetow K.H., Schlessinger D. mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. Am. J. Hum. Genet. 1997, 60:153-159.
39. Thakker R.V., Davies K.E., Whyte M.P., Wooding C., O'riordan J.L. Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J.Clin. Invest. 1990, 86:40-45.
40. Bowl M., Nesbit M., Harding B., et al. X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25 [Abstract]. J.Bone Miner. Res. 2001, 16(Suppl. 1):S152.
41. Ahonen P., Myllarniemi S., Sipila I., Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N.Engl. J. Med. 1990, 322(26):1829-1836.
42. Ahonen P. Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED), autosomal recessive inheritance. Clin. Genet. 1985, 27(6):535-542.
43. Zlotogora J., Shapiro M.S. Polyglandular autoimmune syndrome type I among Iranian Jews. J.Med. Genet. 1992, 29(11):824-826.
44. Aaltonen J., Bjorses P., Sandkuijl L., Perheentupa J., Peltonen L. An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21. Nature Genet. 1994, 8:83-87.
45. Nagamine K., Peterson P., Scott H.S., et al. Positional cloning of the APECED gene. Nature Genet. 1997, 17(4):393-398.
46. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc. Nature Genet. 1997, 17(4):399-403. The Finnish-German APECED Consortium.
47. Cihakova D., Trebusak K., Heino M., et al. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum. Mutat. 2001, 18(3):225-232.
48. Heino M., Peterson P., Kudoh J., et al. APECED mutations in the autoimmune regulator (AIRE) gene. Hum. Mutat. 2001, 18(3):205-211.
49. Ishii T., Suzuki Y., Ando N., Matsuo N., Ogata T. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J.Clin. Endocrinol. Metab. 2000, 85(8):2922-2926.
50. Bjorses P., Halonen M., Palvimo J.J., et al. Mutations in the AIRE gene: Effects on subcellular location and trans-activation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystroph. Am. J. Hum. Genet. 2000, 66(2):378-392.
51. Kumar P.G., Laloraya M., Wang C.Y., et al. The autoimmune regulator (AIRE) is a DNA-binding protein. J.Biol. Chem. 2001, 276(44):41357-41364.
52. Pitkanen J., Doucas V., Sternsdorf T., et al. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J.Biol. Chem. 2000, 275(22):16802-16809.
53. Moraes C.T., Dimauro S., Zeviani M., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N.Engl. J. Med. 1989, 320(20):1293-1299.
54. Zupanc M.L., Moraes C.T., Shanske S., Langman C.B., Ciafaloni E., Dimauro S. Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Ann. Neurol. 1991, 29(6):680-683.
55. Morten K.J., Cooper J.M., Brown G.K., Lake B.D., Pike D., Poulton J. A new point mutation associated with mitochondrial encephalomyopathy. Hum. Mol. Genet. 1993, 2(12):2081-2087.
56. Scambler P.J., Carey A.H., Wyse R.K., et al. Microdeletions within 22qll associated with sporadic and familial DiGeorge syndrome. Genomics 1991, 10:201-206.
57. Monaco G., Pignata C., Rossi E., Mascellaro O., Cocozza S., Ciccimarra F. DiGeorge anomaly associated with 10p deletion. Am. J. Med. Genet. 1991, 39(2):215-216.
58. Gong W., Emanuel B.S., Collins J., et al. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22qll. Hum. Mol. Genet. 1996, 5(6):789-800.
59. Augusseau S., Jouk S., Jalbert P., Prieur M. DiGeorge syndrome and 22qll rearrangements. Hum. Genet. 1986, 74(2):206.
60. Budarf M.L., Collins J., Gong W., et al. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet. 1995, 10(3):269-278.
61. Yamagishi H., Garg V., Matsuoka R., Thomas T., Srivastava D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 1999, 283(5405):1158-1161.
62. Sykes K., Bachrach L., Siegel-Bartelt J., Ipp M., Kooh S., Cytrynbaum C. Velocardiofacial syndrome presenting as hypocalcemia in early adolescence. Arch. Pediatr. Adolesc. Med. 1997, 151:745-747.
63. Scire G., Dallapiccola B., Iannetti P., et al. Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. Am. J. Med. Genet. 1994, 52:478-482.
64. Merscher S., Funke B., Epstein J., et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001, 104:619-629.
65. Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene. Tbxl. Nature Genet. 2001, 27(3):286-291.
66. Lindsay E.A., Vitelli F., Su H., et al. Tbxl haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 2001, 410(6824):97-101.
67. Guris D.L., Fantes J., Tara D., Druker B.J., Imamoto A. Mice lacking the homologue of the human 22qll.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nature Genet. 2001, 27(3):293-298.
68. Gunther T., Chen Z., Kim J., et al. Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature 2000, 406:199-203.
69. Kim J., Jones B., Zock C., et al. Isolation and characterization of mammalian homologs of the Drosophila gene glial cells missing. Proc. Natl. Acad. Sci. USA 1998, 95:12364-12369.
70. Ding C., Buckingham B., Levine M. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J.Clin. Invest. 2001, 108:1215-1220.
71. Bilous R., Murty G., Parkinson D., et al. Autosomal dominant familial hypoparathyroidism: Sensineural deafness and renal dysplasia. N.Engl. J. Med. 1992, 327:1069-1084.
72. Fryns J., Muelenaeve A.D., Bergue H.V. Distal 10p deletion syndrome. Ann. Genet. 1981, 24:189-190.
73. Van Esch H., Groenen P., Daw S., et al. Partial DiGeorge syndrome in two patients with a l0p rearrangement. Clin. Genet. 1999, 55(4):269-276.
74. Van Esch H., Groenen P., Nesbit M., et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000, 406:419-422.
75. Pandolfi P.P., Roth M.E., Karis A., et al. Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis. Nature Genet. 1995, 11:40-44.
76. Watanabe T., Mochizuki H., Kodha N., et al. Autosomal dominant familial hypoparathyroidism and sensorineuronal deafness without renal dysplasia. Eur. J. Endocrinol. 1998, 136:631-634.
77. Parvari R., Hershkovitz E., Kanis A., et al. Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM int. Am. J. Hum. Genet. 1998, 63:163-169.
78. Bassett J., Thakker R. Molecular genetics of disorders of calcium homeostasis. Balliere's Clinical Endocrinology and Metabolism 1995, 581-608. Balliere Tindall, Philadelphia. R. Thakker (Ed.).
79. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993, 75:1297-1303.
80. Chou Y.H., Pollak M.R., Brandi M.L., et al. Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am. J. Hum. Genet. 1995, 56(5):1075-1079.
81. Pearce S., Trump D., Wooding C., et al. Calcium-sensing receptor mutations in familial benign hypercalcaemia and neonatal hyperparathyroidism. J.Clin. Invest. 1995, 96:2683-2692.
82. Janicic N., Pausova Z., Cole D.E., Hendy G.N. Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am. J. Hum. Genet. 1995, 56(4):880-886.
83. Aida K., Koishi S., Inoue M., Nakazato M., Tawata M., Onaya T. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. J.Clin. Endocrinol. Metab. 1995, 80(9):2594-2598.
84. Heath H.3Rd., Odelberg S., Jackson C.E., et al. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia sug gest receptor functi. J.Clin. Endocrinol. Metab. 1996, 81:1312-1317.
85. D'souza-Li L., Yang B., Canaff L., et al. Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypo. J.Clin. Endocrinol. Metab. 2002, 87:1309-1318.
86. 2+-sensing receptor gene mutation. Nature Genet. 1994, 8:303-307.
87. Finegold D.N., Armitage M.M., Galiani M., et al. Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3ql3. Pediatr. Res. 1994, 36(3):414-417.
88. Conley Y.P., Finegold D.N., Peters D.G., Cook J.S., Oppenheim D.S., Ferrell R.E. Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia. Mol. Genet. Metab. 2000, 71(4):591-598.
89. Pearce S.H., Williamson C., Kifor O., et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N.Engl. J. Med. 1996, 335(15):1115-1122.
90. Baron J., Winer K., Yanovski J., et al. Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum. Mol. Genet. 1996, 5:601-606.
91. Okazaki R., Chikatsu N., Nakatsu M., et al. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J.Clin. Endocrinol. Metab. 1999, 84:363-366.
92. Albright F., Burnett C.H., Smith P.H., Parson W. Pseudohypoparathyroidism-An example of "Seabright-Bantam syndrome.". Endocrinology 1942, 30:922-932.
93. van Dop C. Pseudohypoparathyroidism: Clinical and molecular aspects. Sem. Nephrol. 1989, 9(2):168-178.
94. Levine M. Hypoparathyroidism and pseudohypoparathyroidism. Endocrinology 2000, 1133-1153. Saunders, London. 4th ed. L.J. DeGroot, J. Jameson (Eds.).
95. Weinstein L., Yu S., Warner D., Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr. Rev. 2001, 22:675-705.
96. Schuster V., Eschenhagen T., Kruse K., Gierschik P., Kreth H.W. Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy. Eur. J. Pediatr. 1993, 152:185-189.
97. 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. 1993, 76:1560-1568.
98. Weinstein L.S., Gejman P.V., Friedman E., et al. Mutations of the Gs α-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc. Natl. Acad. Sci. USA 1990, 87:8287-8290.
99. Davies A.J., Hughes H.E. Imprinting in Albright's hereditary osteodystrophy. J.Med. Genet. 1993, 30:101-103.
100. Wilson L.C., Oude-Luttikhuis M.E.M., Clayton P.T., Fraser W.D., Trembath R.C. Parental origin of Gsα gene mutations in Albright's hereditary osteodystrophy. J.Med. Genet. 1994, 31:835-839.
101. Sα) knockout mice is due to tissue-specific imprinting of t. Proc. Natl. Acad. Sci. USA 1998, 95(15):8715-8720.
102. Ahrens W., Hiort O., Staedt P., Kirschner T., Marschke C., Kruse K. Analysis of the gnasl gene in albright's hereditary osteodystrophy. J.Clin. Endocrinol. Metab. 2001, 86(10):4630-4634.
103. Iiri T., Herzmark P., Nakamoto J.M., Dop C.V., Bourne H.R. Rapid GDP release from Gs in patients with gain and loss of function. Nature 1994, 371:164-168.
104. Yeh G.L., Mathur S., Wivel A., et al. GNAS1 mutation and Cbfal misexpression in a child with severe congenital platelike osteoma cutis. J.Bone Miner. Res. 2000, 15:2063-2073.
105. Eddy M.C., De Beur S.M., Yandow S.M., et al. Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. J.Bone Miner. Res. 2000, 15(11):2074-2083.
106. Shore E., Ahn J., Jan De Beur S., et al. Paternallyinherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N.Engl. J. Med. 2002, 346:99-106.
107. Hayward B., Kamiya M., Strain L., et al. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc. Natl. Acad. Sci. USA 1998, 95:10038-10043.
108. Hayward B.E., Moran V., Strain L., Bonthron D.T. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc. Natl. Acad. Sci. USA 1998, 95:15475-15480.
109. Campbell R., Gosden C.M., Bonthron D.T. Parental origin of transcription from the human GNAS1 gene. J.Med. Genet. 1994, 31:607-614.
110. Peters J., Wroe S.F., Wells C.A., et al. A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc. Natl. Acad. Sci. USA 1999, 96:3830-3835.
111. Zheng H., Radeva G., Mccann J.A., Hendy G.N., Goodyear C.G. Gas transcripts are biallelically expressed in the human kidney cortex: Implications for pseudohypopara-thyroidism type Ib. J.Clin. Endocrinol. Metab. 2001, 86:4627-4629.
112. Kehlenbach R.H., Matthey J., Huttner W.B. XLαs is a new type of G protein. Nature 1994, 372:804-809.
113. Klemke M., Pasolli H., Kehlenbach R., Offermanns S., Schultz G., Huttner W. Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal trans-duction properties. J.Biol. Chem. 2000, 275:33633-33640.
114. Bastepe M., Gunes Y., Perez-Villamil B., Hunzelman J., Weinstein L.S., Jüppner H. Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit. Mol. Endocrinol. 2002, 16:1912-1919.
115. Pasolli H., Klemke M., Kehlenbach R., Wang Y., Huttner W. Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization. J.Biol. Chem. 2000, 275:33622-33632.
116. Klemke M., Kehlenbach R.H., Huttner W.B. Two overlapping reading frames in a single exon encode interacting proteins-A novel way of gene usage. EMBO J. 2001, 20(14):3849-3860.
117. Ischia R., Lovisetti-Scamihorn P., Hogue-Angeletti R., Wolkersdorfer M., Winkler H., Fischer-Colbrie R. Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity. J.Biol. Chem. 1997, 272:11657-11662.
118. Swaroop A., Agarwal N., Gruen J.R., Bick D., Weissman S.M. Differential expression of novel Gs alpha signal transduction protein cDNA species. Nucleic Acids Res. 1991, 19(17):4725-4729.
119. Liu J., Yu S., Litman D., Chen W., Weinstein L. Identification of a methylation imprint mark within the mouse gnas locus. Mol. Cell. Biol. 2000, 20:5808-5817.
120. Sα mRNA. J.Biol. Chem. 1990, 265:8458-8462.
121. Hayward B., Bonthron D. An imprinted antisense transcript at the human GNAS1 locus. Hum. Mol. Genet. 2000, 9:835-841.
122. Wroe S.F., Kelsey G., Skinner J.A., et al. An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc. Natl. Acad. Sci. USA 2000, 97:3342-3346.
123. Murray T., Gomez Rao E., Wong M.M., et al. Pseudo-hypoparathyroidism with osteitis fibrosa cystica: Direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone. J.Bone Miner. Res. 1993, 8:83-91.
124. Farfel Z. Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib. J.Bone Miner. Res. 1999, 14:1016.
125. Schipani E., Weinstein L.S., Bergwitz C., et al. 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. 1995, 80:1611-1621.
126. Bettoun J.D., Minagawa M., Kwan M.Y., et al. Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: Analysis of deoxyribonucleic ac. J.Clin. Endocrinol. Metab. 1997, 82:1031-1040.
127. Suarez F., Lebrun J.J., Lecossier D., Escoubet B., Coureau C., Silve C. Expression and modulation of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type. J.Clin. Endocrinol. Metab. 1995, 80:965-970.
128. Fukumoto S., Suzawa M., Takeuchi Y., et al. Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism t. J.Clin. Endocrinol. Metab. 1996, 81:2554-2558.
129. Wu W.I., Schwindinger W.F., Aparicio L.F., Levine M.A. Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of Gas: Acause of pseudohypoparathyroidism type Ib. J.Biol. Chem. 2001, 276:165-171.
130. Jüppner H., Schipani E., Bastepe M., et al. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20ql3.3. Proc. Natl. Acad. Sci. USA 1998, 95:11798-11803.
131. Liu J., Litman D., Rosenberg M., Yu S., Biesecker L., Weinstein L. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J.Clin. Invest. 2000, 106:1167-1174.
132. Bastepe M., Pincus J.E., Sugimoto T., et al. Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: Evide. Hum. Mol. Genet. 2001, 10:1231-1241.
133. Bastepe M., Lane A.H., Juppner H. Paternal uniparental isodisomy of chromosome 20q (patUPD20q)-and the resulting changes in GNAS1 methylation-as a plausible cause of pseudohypoparathyr. Am. J. Hum. Genet. 2001, 68:1283-1289.
134. Blomstrand S., Claesson I., Säve-Söderbergh J. A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr. Radiol. 1985, 15:141-143.
135. Young I.D., Zuccollo J.M., Broderick N.J. A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia. J.Med. Genet. 1993, 30:155-157.
136. Leroy J.G., Keersmaeckers G., Coppens M., Dumon J.E., Roels H. Blomstrand lethal chondrodysplasia. Am. J. Med Genet. 1996, 63:84-89.
137. Loshkajian A., Roume J., Stanescu V., Delezoide A.L., Stampf F., Maroteaux P. Familial Blomstrand chondrodysplasia with advanced skeletal maturation: Further delineation. Am. J. Med. Genet. 1997, 71:283-288.
138. Den Hollander N.S., Van Der Harten H.J., Vermeij-Keers C., Niermeijer M.F., Wladimiroff J.W. First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. Am. J. Med. Genet. 1997, 73:345-350.
139. Oostra R.J., Baljet B., Dijkstra P.F., Hennekam R.C.M. Congenital anomalies in the teratological collection of museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasia. Am. J. Med. Genet. 1998, 11:116-134.
140. Jobert A.S., Zhang P., Couvineau A., et al. Absence of functional receptors parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J.Clin. Invest. 1998, 102:34-40.
141. Zhang P., Jobert A.S., Couvineau A., Silve C. A homozygous inactivating mutation in the parathyroid hormonej parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J.Clin. Endocrinol. Metab. 1998, 83:3365-3368.
142. Karaplis A.C., Bin He M.T., Nguyen A. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 1998, 139:5255-5258.
143. Karperien M.C., Van Der Harten H.J., Van Schooten R., et al. A frame-shift mutation in the type I parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. J.Clin. Endocrinol. Metab. 1999, 84:3713-3720.
144. Karperien M., Sips H., Harten H., et al. Novel mutations in the type I PTH/PTHrP receptor causing Blomstrand lethal osteochondrodysplasia [Abstract]. J.Bone Miner. Res. 2001, 16(Suppl. 1):S549.
145. Wysolmerski J.J., Cormier S., Philbrick W., et al. Absence of functional type 1 PTH/PTHrP receptors in humans is associated with abnormal breast development and tooth impactation. J.Clin. Endocrinol. Metab. 2001, 86:1788-1794.
146. Thakker R.V. The molecular genetics of the multiple endocrine neoplasia syndromes. Clin. Endocrinol. 1993, 38:1-14.
147. Szabo J., Heath B., Hill V.M., et al. Hereditary hyper-parathyroidism-jaw tumor syndrome: The endocrine tumor gene HRPT2 maps to chromosome Iq21-q31. Am. J. Hum. Genet. 1995, 56(4):944-950.
148. Arnold A., Brown M.F., Urena P., Gaz R.D., Sarfati E., Drueke T.B. Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia. J.Clin. Invest. 1995, 95(5):2047-2053.
149. Arnold A., Kim H.G., Gaz R.D., et al. Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma. J.Clin. Invest. 1989, 83(6):2034-2040.
150. Motokura T., Bloom T., Kim H.G., et al. A BCL1-linked candidate oncogene which is rearranged in parathyroid tumors encodes a novel cyclin. Nature 1991, 350:512-515.
151. Nurse P. Universal control mechanism regulating onset of M-phase. Nature 1990, 344(6266):503-508.
152. His E.D., Zukerberg L.R., Yang W.I., Arnold A. Cyclin D1/PRAD1 expression in parathyroid adenomas: An immunohistochemical study. J.Clin. Endocrinol. Metab. 1996, 81(5):1736-1739.
153. Wang T.C., Cardiff R.D., Zukerberg L., Lees E., Arnold A., Schmidt E.V. Mammary hyperplasia and carcinoma in MMTV-cyclin Dl transgenic mice. Nature 1994, 369(6482):669-671.
154. Imanishi Y., Hosokawa Y., Yoshimoto K., et al. Primary hyperparathyroidism caused by parathyroid-targeted overexpression of cyclin Dl in transgenic mice. J.Clin. Invest. 2001, 107(9):1093-1102.
155. Trump D., Farren B., Wooding C., et al. Clinical studies of multiple endocrine neoplasia type 1 (MEN1). Q.J. M. 1996, 89(9):653-669.
156. Marx S. Multiple endocrine neoplasia type 1. The Genetic Basis of Human Cancer 1998, 489-506. McGraw-Hill, Philadelphia. B. Vogelstein, K. Kinzler (Eds.).
157. Thakker R.V. Multiple endocrine neoplasia-Syndromes of the twentieth century. J.Clin. Endocrinol. Metab. 1998, 83(8):2617-2620.
158. Chandrasekharappa S.C., Guru S.C., Manickam P., et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997, 276(5311):404-407.
159. Lemmens I., Van De Ven W.J., Kas K., et al. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum. Mol. Genet. 1997, 6(7):1177-1183.
160. Bassett J.H., Forbes S.A., Pannett A.A., et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am. J. Hum. Genet. 1998, 62(2):232-244.
161. The B.T., Kytola S., Farnebo F., et al. Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. J.Clin. Endocrinol. Metab. 1998, 83(8):2621-2626.
162. Heppner C., Kester M.B., Agarwal S.K., et al. Somatic mutation of the MEN1 gene in parathyroid tumours. Nature Genet. 1997, 16(4):375-378.
163. Zhuang Z., Vortmeyer A.O., Pack S., et al. Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas. Cancer Res. 1997, 57(21):4682-4686.
164. Zhuang Z., Ezzat S.Z., Vortmeyer A.O., et al. Mutations of the MEN1 tumor suppressor gene in pituitary tumors. Cancer Res. 1997, 57(24):5446-5451.
165. Prezant T.R., Levine J., Melmed S. Molecular characterization of the menl tumor suppressor gene in sporadic pituitary tumors. J.Clin. Endocrinol. Metab. 1998, 83(4):1388-1391.
166. Debelenko L.V., Brambilla E., Agarwal S.K., et al. Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. Hum. Mol. Genet. 1997, 6(13):2285-2290.
167. Vortmeyer A.O., Boni R., Pak E., Pack S., Zhuang Z. Multiple endocrine neoplasia 1 gene alterations in MEN1-associated and sporadic lipomas. J.Natl. Cancer Inst. 1998, 90(5):398-399.
168. Faraebo F., The B.T., Kytola S., et al. Alterations of the MEN1 gene in sporadic parathyroid tumors. J.Clin. Endocrinol. Metab. 1998, 83(8):2627-2630.
169. Carling T., Correa P., Hessman O., et al. Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism. J.Clin. Endocrinol. Metab. 1998, 83(8):2960-2963.
170. Tanaka C., Kimura T., Yang P., et al. Analysis of loss of heterozygosity on chromosome 11 and infrequent inactivation of the MEN1 gene in sporadic pituitary adenomas. J.Clin. Endocrinol. Metab. 1998, 83(8):2631-2634.
171. Pannett A.A., Thakker R.V. Somatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesis. J.Clin. Endocrinol. Metab. 2001, 86(9):4371-4374.
172. Guru S.C., Goldsmith P.K., Burns A.L., et al. Menin, the product of the MEN1 gene, is a nuclear protein. Proc. Natl. Acad. Sci. USA 1998, 95(4):1630-1634.
173. Agarwal S.K., Guru S.C., Heppner C., et al. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell 1999, 96:143-152.
174. Heppner C., Bilimoria K.Y., Agarwal S.K., et al. The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation. Oncogene 2001, 20(36):4917-4925.
175. Crabtree J.S., Scacheri P.C., Ward J.M., et al. A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc. Natl. Acad. Sci. USA 2001, 98(3):1118-1123.
176. Mulligan L.M., Kwok J.B.J., Healey C.S., et al. Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993, 363:458-460.
177. Mulligan L.M., Ponder B.A. Genetic basis of endocrine disease: Multiple endocrine neoplasia type 2. J.Clin. Endocrinol. Metab. 1995, 80(7):1989-1995.
178. Pausova Z., Janicic N., et al. Analysis of the RET proto-oncogene in sporadic parathyroid tumors. J.Bone Miner. Res. 1994, 9:S151.
179. Padberg B.C., Schroder S., Jochum W., et al. Absence of RET proto-oncogene point mutations in sporadic hyperplastic and neoplastic lesions of the parathyroid gland. Am. J. Pathol. 1995, 147(6):1600-1607.
180. Heshmati H.M., Gharib H., Khosla S., Abu-Lebdeh H.S., Lindor N.M., Thibodeau S.N. Genetic testing in medullary thyroid carcinoma syndromes: Mutation types and clinical significance. Mayo Clinic Proc. 1997, 72:430-436.
181. Weinberg R.A. Tumor suppressor genes. Science 1991, 254(5035):1138-1146.
182. Cryns V.L., Thor A., Xu H.J., et al. Loss of the retinoblastoma tumor suppressor gene in parathryoid carcinoma. N.Engl. J. Med. 1994, 330:757-761.
183. Pearce S.H., Trump D., Wooding C., Sheppard M.N., Clayton R.N., Thakker R.V. Loss of heterozygosity studies at the retinoblastoma and breast cancer susceptibility (BRCA2) loci in pituitary, parathyroid, pancreatic and carcinoid tumours. Clin. Endocrinol. 1996, 45(2):195-200.
184. Pei L., Melmed S., Scheithauer B., Kovacs K., Benedict W.F., Prager D. Frequent loss of heterozygosity at the retinoblastoma susceptibility gene (RB) locus in aggressive pituitary tumors: Evidence for a chromosome 13 tumor suppre. Cancer Res. 1995, 55(8):1613-1616.
185. Cryns V.L., Yi S.M., Tal.Ara H., Gaz R.D., Arnold A. Frequent loss of chromosomes arm lp DNA in parathyroid adenomas. Genes Chromosomes Cancer 1995, 13:9-17.
186. Williamson C., Pannett A.A., Pang J.T., et al. Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36. J.Med. Genet. 1997, 34(8):617-619.
187. The B.T., Esapa C.T., Houlston R., et al. A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. Am. J. Hum. Genet. 1998, 63(5):1544-1549.
188. Williamson C., Cavaco B.M., Jauch A., et al. Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31. J.Bone Miner. Res. 1999, 14(2):230-239.
189. Janicic N., Soliman E., Pausova Z., et al. Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11. Mamm. Genome 1995, 6(11):798-801.
190. 2+-sensing receptor from bovine parathyroid. Nature 1993, 366:575-580.
191. Pearce S.H., Bai M., Quinn S.J., Kifor O., Brown E.M., Thakker R.V. Functional characterization of calciumsensing receptor mutations expressed in human embryonic kidney cells. J.Clin. Invest. 1996, 98(8):1860-1866.
192. 2+-sensing receptor. J.Biol. Chem. 1996, 271(32):19537-19545.
193. Pollak M.R., Chou Y.H., Marx S.J., et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J.Clin. Invest. 1994, 93(3):1108-1112.
194. 2+-sensing receptor gene: N. J.Clin. Invest. 1997, 99:88-96.
195. Heath H., Jackson C.E., Otterrud B., Leppert M.F. Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: Evidence for locus heterogeneity. Am. J. Hum. Genet. 1993, 53:193-200.
196. Mcmurtry C.T., Schranck F.W., Walkenhorst D.A., et al. Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia. Am. J. Med. 1992, 93(3):247-258.
197. Trump D., Whyte M.P., Wooding C., et al. Linkage studies in a kindred from Oklaloma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormon. Hum. Genet. 1995, 96(2):183-187.
198. Lloyd S.E., Pannett A.A., Dixon P.H., Whyte M.P., Thakker R.V. Localization of familial benign hypercalcemia, Oklaloma variant (FBHOk), to chromosome 19ql3. Am. J. Hum. Genet. 1999, 64:189-195.
199. Schipani E., Kruse K., Juppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995, 268:98-100.
200. Schipani E., Langman C.B., Parfitt A.M., et al. Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N.Engl. J. Med. 1996, 335:708-714.
201. Juppner H. Jansen's metaphyseal chondrodysplasia: A disorder due to a PTH/PTHrP receptor gene mutation. Trends Endocrinol. Metab. 1996, 7:157-162.
202. Schipani E., Langman C.B., Hunzelman J., et al. A novel PTH/PTHrP receptor mutation in Jansen's metaphyseal chondrodysplasia. J.Clin. Endocrinol. Metab. 1999, 84:3052-3057.
203. Minagawa M., Arakawa K., Minamitani K., Yasuda T., Niimi H. Jansen-type metaphyseal chondrodysplasia: Analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcription-polymerase chain method. Endocrine J. 1997, 44:493-499.
204. Ewart A.K., Morris C.A., Atkinson D.L., et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet. 1993, 5:11-16.
205. Nickerson E., Greenberg F., Keating M.T., Mccaskill C., Shaffer L.G. Deletions of the elastin gene at 7qll.23 occur in approximately 90% of patients with Williams syndrome. Am. J. Hum. Genet. 1995, 56(5):1156-1161.
206. Lowery M.C., Morris C.A., Ewart A., et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients. Am. J. Hum. Genet. 1995, 57:49-53.
207. Li D., Brooke B., Davis E., et al. Elastin is an essential determinant of arterial morphogenesis. Nature 1998, 393:276-280.
208. Tassabehji M., Metcalfe K., Fergusson W.D., et al. LIM-kinase deleted in Williams syndrome. Nature Genet. 1996, 13(3):272-273.
209. Perez Jurado L.A., Li X., Francke U. The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome. Cytogenet. Cell. Genet. 1995, 70(3/4):246-249.
210. Thakker R., Juppner H. Genetics disorders of calcium homeostasis caused by abnormal regulation of parathyoid hormone secretion or responsiveness. Endocrinology 2000, 1062-1074. Saunders, New York. L. DeGroot, J. Jameson (Eds.).
211. De Haas W.H.D., De Boer W., Griffioen F. Metaphysial dysostosis. A late follow-up of the first reported case. J.Bone Joint Surg. 1969, 51B:290-299.
212. Carpten J.D., Robbins C.M., Villablanca A., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat. Genet. 2002, 32:676-680.