Genetic Disorders Caused by Mutations in the PTH/PTHrP Receptor and Downstream Effector Molecules

The Parathyroids: Basic and Clinical Concepts: Third Edition

Volumn , Issue , 2015, Pages 587-605

  Silve, Caroline ^a,b   Jüppner, Harald ^c  

^a BICÊTRE HOSPITAL   (France)

^b BICHAT HOSPITAL   (France)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Acrodysostosis; Calcium sensing receptor; CAMP signaling pathway; Chondrodysplasia; Genetic disease; GNAS; HDAC4; PDE4D; PRKAR1A; PTH; PTH PTHrP receptor; PTHrP; Stimulatory G protein

Indexed keywords

EID: 84942782640     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-397166-1.00040-0     Document Type: Chapter

References (155)

1. Gardella T.J., Jüppner H., 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 2010, 1040-1073. W.B. Saunders Company, Philadelphia, PA. L.J. DeGroot, J.L. Jameson (Eds.).
2. Potts J.T., Gardella T.J. Progress, paradox, and potential: parathyroid hormone research over five decades. Ann NY Acad Sci 2007, 1117:196-208.
3. Miao D., He B., Karaplis A., Goltzman D. Parathyroid hormone is essential for normal fetal bone formation. J Clin Invest 2002, 109:1173-1182.
4. Günther T., Chen Z.F., Kim J., Priemel M., Rueger J.M., Amling M., et al. Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature 2000, 2000(406):199-203.
5. Kronenberg H. Developmental regulation of the growth plate. Nature 2003, 2003(423):332-336.
6. Weir E.C., Philbrick W.M., Amling M., Neff L.A., Baron R., Broadus A.E. Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes skeletal dysplasia and delayed endochondral bone formation. Proc Natl Acad Sci USA 1996, 93:10240-10245.
7. St-Arnaud R., Demay M.B. Vitamin D biology. Pediatric Bone: Biology and Diseases 2011, 163-187. Academic Press, San Diego.
8. Silver J., Kronenberg H.M. Parathyroid hormone - Molecular biology and regulation. Principles of Bone Biology 1996, 325-346. Academic Press, New York. J.P. Bilezikian, L.G. Raisz, G.A. Rodan (Eds.).
9. 2+-sensing receptor from bovine parathyroid. Nature 1993, 366:575-580.
10. Almaden Y., Canalejo A., Hernandez A., Ballesteros E., Garcia-Navarro S., Torres 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.
11. Slatopolsky E., Finch J., Denda M., Ritter C., Zhong M., Dusso A., et al. Phosphorus restriction prevents parathyroid gland growth. High phosphorus directly stimulates PTH secretion in vitro. J Clin Invest 1996, 97:2534-2540.
12. Ben-Dov I.Z., Galitzer H., Lavi-Moshayoff V., Goetz R., Kuro-o M., Mohammadi M., et al. The parathyroid is a target organ for FGF23 in rats. J Clin Invest 2007, 117:4003-4008.
13. Krajisnik T., Bjorklund P., Marsell R., Ljunggren O., Akerstrom G., Jonsson K.B., et al. Fibroblast growth factor-23 regulates parathyroid hormone and 1alpha-hydroxylase expression in cultured bovine parathyroid cells. J Endocrinol 2007, 195:125-131.
14. Riccardi D., Lee W.S., Lee K., Segre G.V., Brown E.M., Hebert S.C. Localization of the extracellular Ca(2+)-sensing receptor and PTH/PTHrP receptor in rat kidney. Am J Physiol 1996, 271:F951-F956.
15. Lee K., Brown D., Urena P., Ardaillou N., Ardaillou R., Deeds J., et al. Localization of parathyroid hormone/parathyroid hormone-related peptide receptor mRNA in kidney. Am J Physiol 1996, 270:F186-F191.
16. Yang T., Hassan S., Huang Y.G., Smart A.M., Briggs J.P., Schnermann J.B. Expression of PTHrP, PTH/PTHrP receptor, and Ca(2+)-sensing receptor mRNAs along the rat nephron. Am J Physiol 1997, 272. F751-F8.
17. Chabardes D., Imbert M., Clique A., Montegut M., Morel F. PTH sensitive adenyl cyclase activity in different segments of the rabbit nephron. Pflugers Arch 1975, 354:229-239.
18. Morel F., Imbert-Teboul M., Chabardes D. Distribution of hormone-dependent adenylate cyclase in the nephron and its physiological significance. Annu Rev Physiol 1981, 43:569-581.
19. Lupp A., Klenk C., Rocken C., Evert M., Mawrin C., Schulz S. Immunohistochemical identification of the PTHR1 parathyroid hormone receptor in normal and neoplastic human tissues. Eur J Endocrinol 2010, 162:979-986.
20. Kong X.F., Zhu X.H., Pei Y.L., Jackson D.M., Holick M.F. Molecular cloning, characterization, and promoter analysis of the human 25-hydroxyvitamin D3-1alpha-hydroxylase gene. Proc Natl Acad Sci USA 1999, 96:6988-6993.
21. Takeyama K., Kitanaka S., Sato T., Kobori M., Yanagisawa J., Kato S. 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis. Science 1997, 277:1827-1830.
22. Bacic D., Wagner C.A., Hernando N., Kaissling B., Biber J., Murer H. Novel aspects in regulated expression of the renal type IIa Na/Pi-cotransporter. Kidney Int 2004, Suppl:S5-12.
23. Berndt T., Kumar R. Phosphatonins and the regulation of phosphate homeostasis. Annu Rev Physiol 2007, 69:341-359.
24. Bergwitz C., Jüppner H. Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. Annu Rev Med 2010, 61:91-104.
25. Blaine J., Weinman E.J., Cunningham R. The regulation of renal phosphate transport. Adv Chronic Kidney Dis 2011, 18:77-84.
26. Segawa H., Kaneko I., Takahashi A., Kuwahata M., Ito M., Ohkido I., et al. Growth-related renal type II Na/Pi cotransporter. J Biol Chem 2002, 277:19665-19672.
27. Segawa H., Yamanaka S., Onitsuka A., Tomoe Y., Kuwahata M., Ito M., et al. Parathyroid hormone-dependent endocytosis of renal type IIc Na-Pi cotransporter. Am J Physiol Renal Physiol 2007, 292:F395-F403.
28. Nagai S., Okazaki M., Segawa H., Bergwitz C., Dean T., Potts J.T., et al. Acute down-regulation of sodium-dependent phosphate transporter NPT2a involves predominantly the cAMP/PKA pathway as revealed by signaling-selective parathyroid hormone analogs. J Biol Chem 2011, 286:1618-1626.
29. Patten J.L., Johns D.R., Valle D., Eil C., Gruppuso P.A., Steele G., et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. New Engl J Med 1990, 322:1412-1419.
30. Weinstein L.S., Gejman P.V., Friedman E., Kadowaki T., Collins R.M., Gershon E.S., 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.
31. Guo J., Liu M., Yang D., Bouxsein M.L., Thomas C.C., Schipani E., et al. Phospholipase C signaling via the parathyroid hormone (PTH)/PTH-related peptide receptor is essential for normal bone responses to PTH. Endocrinology 2010, 151:3502-3513.
32. Guo J., Song L., Liu M., Segawa H., Miyamoto K., Bringhurst F.R., et al. Activation of a non-cAMP/PKA signaling pathway downstream of the PTH/PTHrP receptor is essential for a sustained hypophosphatemic response to PTH infusion in male mice. Endocrinology 2013, 154:1680-1689.
33. Biber J., Hernando N., Forster I., Murer H. Regulation of phosphate transport in proximal tubules. Pflugers Arch 2009, 458:39-52.
34. Kaufmann M., Muff R., Born W., Fischer J. Functional expression of a stably transfected parathyroid hormone/parathyroid hormone related protein receptor complementary DNA in CHO cells. Mol Cell Endocrinol 1994, 104:21-27.
35. i cotransporter by PTH: immunogold electron microscopy. Am J Physiol (Renal Physiol) 2000, 278:F148-F154.
36. Mahon M.J., Donowitz M., Yun C.C., Segre G.V. Na(+)/H(+) exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling. Nature 2002, 417:858-861.
37. Mahon M., Segre G. Stimulation by parathyroid hormone of a NHERF-1-assembled complex consisting of the parathyroid hormone I receptor, phospholipase Cbeta, and actin increases intracellular calcium in opossum kidney cells. J Biol Chem 2004, 279:23550-23558.
38. Hilpert J., Nykjaer A., Jacobsen C., Wallukat G., Nielsen R., Moestrup S.K., et al. Megalin antagonizes activation of the parathyroid hormone receptor. J Biol Chem 1999, 274:5620-5625.
39. Friedman P.A., Coutermarsh B.A., Kennedy S.M., Gesek F.A. Parathyroid hormone stimulation of calcium transport is mediated by dual signaling mechanisms involving protein kinase A and protein kinase C. Endocrinology 1996, 137:13-20.
40. Linglart A., Menguy C., Couvineau A., Auzan C., Gunes Y., Cancel M., et al. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med 2011, 364:2218-2226.
41. Mensenkamp A.R., Hoenderop J.G., Bindels R.J. TRPV5, the gateway to Ca2+ homeostasis. Handb Exp Pharmacol 2007, 207-220.
42. Neer R., Arnaud C., Zanchetta J., Prince R., Gaich G., Reginster J., et al. Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis. N Engl J Med 2001, 344:1434-1441.
43. Finkelstein J., Hayes A., Hunzelman J., Wyland J., Lee H., Neer R. The effects of parathyroid hormone, alendronate, or both in men with osteoporosis. N Engl J Med 2003, 349:1216-1226.
44. Calvi L., Sims N., Hunzelman J., Knight M., Giovannetti A., Saxton J., et al. Activation of the PTH/PTHrP receptor in osteoblastic cells has differential effects on cortical and trabecular bone. J Clin Invest 2001, 107:277-286.
45. Rhee Y., Bivi N., Farrow E., Lezcano V., Plotkin L.I., White K.E., et al. Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo. Bone 2011, 49:636-643.
46. Wysolmerski J.J., McCaughern-Carucci J.F., Daifotis A.G., Broadus A.E., Philbrick W.M. Overexpression of parathyroid hormone-related protein or parathyroid hormone in transgenic mice impairs branching morphogenesis during mammary gland development. Development 1996, 121:3539-3547.
47. Wysolmerski J., Philbrick W., Dunbar M., Lanske B., Kronenberg H., Broadus A. Rescue of the parathyroid hormone-related protein knockout mouse demonstrates that parathyroid hormone-related protein is essential for mammary gland development. Development 1998, 125:1285-1294.
48. Strewler G.J. The physiology of parathyroid hormone-related protein. N Engl J Med 2000, 342:177-185.
49. Hens J.R., Dann P., Zhang J.P., Harris S., Robinson G.W., Wysolmerski J. BMP4 and PTHrP interact to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction. Development 2007, 134:1221-1230.
50. Lee K., Deeds J.D., Segre G.V. Expression of parathyroid hormone-related peptide and its receptor messenger ribonucleic acid during fetal development of rats. Endocrinology 1995, 136:453-463.
51. Amizuka N., Karaplis A.C., Henderson J.E., Warshawsky H., Lipman M.L., Matsuki Y., et al. Haploinsufficiency of parathyroid hormone-related peptide (PTHrP) results in abnormal post-natal bone development. Dev Biol 1996, 175:166-176.
52. Koike T., Iwamoto M., Shimazu A., Nakashima K., Suzuki F., Kato Y. Potent mitogenic effects of parathyroid hormone (PTH) on embryonic chick and rabbit chondrocytes. Differential effects of age on growth, proteoglycan, and cyclic AMP responses of chondrocytes to PTH. J Clin Invest 1990, 85:626-631.
53. Iwamoto M., Jikko A., Murakami H., Shimazu A., Nakashima K., Iwamoto M., et al. Changes in parathyroid hormone receptors during chondrocyte cytodifferentiation. J Biol Chem 1994, 269:17245-17251.
54. Stone D.M., Hynes M., Armanini M., Swanson T.A., Gu Q., Johnson R.L., et al. The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature 1996, 384:129-134.
55. Marigo V., Davey R.A., Zuo Y., Cunningham J.M., Tabin C.J. Biochemical evidence that Patched is the Hedgehog receptor. Nature 1996, 384:176-179.
56. Lanske B., Divieti P., Kovacs C.S., Pirro A., Landis W.J., Krane S.M., et al. The parathyroid hormone (PTH)/PTH-related peptide receptor mediates actions of both ligands in murine bone. Endocrinology 1999, 139:5194-5204.
57. Arnold A., Horst S.A., Gardella T.J., Baba H., Levine M.A., Kronenberg H.M. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest 1990, 86:1084-1087.
58. 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.
59. 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, 84:3792-3796.
60. Ertl D.A., Stary S., Streubel B., Raimann A., Haeusler G. A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism. Bone 2012, 51:629-632.
61. Tomar N., Gupta N., Goswami R. Calcium-sensing receptor autoantibodies and idiopathic hypoparathyroidism. J Clin Endocrinol Metab 2013, 98:3884-3891.
62. Ding C., Buckingham B., Levine M.A. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest 2001, 108:1215-1220.
63. Baumber L., Tufarelli C., Patel S., King P., Johnson C.A., Maher E.R., et al. Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. J Med Genet 2005, 42:443-448.
64. Thomee C., Schubert S.W., Parma J., Le P.Q., Hashemolhosseini S., Wegner M., et al. GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. J Clin Endocrinol Metab 2005, 90:2487-2492.
65. Mannstadt M., Bertrand G., Muresan M., Weryha G., Leheup B., Pulusani S.R., et al. Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. J Clin Endocrinol Metab 2008, 93:3568-3576.
66. Mirczuk S.M., Bowl M.R., Nesbit M.A., Cranston T., Fratter C., Allgrove J., et al. A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism. J Clin Endocrinol Metab 2010, 95:3512-3516.
67. Tomar N., Bora H., Singh R., Gupta N., Kaur P., Chauhan S.S., et al. Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members. Eur J Endocrinol 2010, 162:407-421.
68. Yi H.S., Eom Y.S., IeB Park, Lee S., Hong S., Jüppner H., et al. Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism. Clin Endocrinol (Oxf) 2012, 76:625-633.
69. Mannstadt M., Harris M., Bravenboer B., Chitturi S., Dreijerink K.M., Lambright D.G., et al. Germline mutations affecting Galpha11 in hypoparathyroidism. N Engl J Med 2013, 368:2532-2534.
70. Nesbit M.A., Hannan F.M., Howles S.A., Babinsky V.N., Head R.A., Cranston T., et al. Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia. N Engl J Med 2013, 368:2476-2486.
71. Unger S., Gorna M.W., Le Bechec A., Do Vale-Pereira S., Bedeschi M.F., Geiberger S., et al. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet 2013, 92:990-995.
72. Isojima T., Doi K., Mitsui J., Oda Y., Tokuhiro E., Yasoda A., et al. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. J Bone Miner Res 2014, 29:992-998.
73. Maroteaux P.L.M., Lamy M. Les Maladies Osseuses de l'Enfant 2002, Médecine-Sciences Flammarion, Paris, 682pp.
74. Mundlos S. The brachydactylies: a molecular disease family. Clin Genet 2009, 76:123-136.
75. Bastepe M., Jüppner H. Pseudohypoparathyroidism, Albright's hereditary osteodystrophy, and progressive osseous heteroplasia: disorders caused by inactivating GNAS mutations. Endocrinology 2010, 1223-1235. W.B. Saunders Company, Philadelphia, PA. L.J. DeGroot, J.L. Jameson (Eds.).
76. Williams S.R., Aldred M.A., Der Kaloustian V.M., Halal F., Gowans G., McLeod D.R., et al. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet 2010, 87:219-228.
77. Maass P.G., Wirth J., Aydin A., Rump A., Stricker S., Tinschert S., et al. A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to brachydactyly type E. Hum Mol Genet 2010, 19:848-860.
78. Klopocki E., Hennig B.P., Dathe K., Koll R., de Ravel T., Baten E., et al. Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet 2010, 86:434-439.
79. Collinson M., Leonard S.J., Charlton J., Crolla J.A., Silve C., Hall C.M., et al. Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH. Am J Med Genet A 2010, 152A:3124-3128.
80. Silve C.A. cup half-full or half-empty? When PTHrP levels matter. IBMS BoneKEy 2010, 7:325-332.
81. Jansen M. Über atypische Chondrodystrophie (Achondroplasie) und über eine noch nicht beschriebene angeborene Wachstumsstörung des Knochensystems: Metaphysäre Dysostosis. Zeitschr Orthop Chir 1934, 61:253-286.
82. Jüppner H., Schipani E., Silve C. Jansen's metaphyseal chondrodysplasia and Blomstrand's lethal chondrodysplasia: two genetic disorders caused by PTH/PTHrP receptor mutations. Principles of Bone Biology 2002, 1117-1135. Academic Press, San Diego, CA. J. Bilezikian, L. Raisz, G. Rodan (Eds.).
83. Parfitt A.M., Schipani E., Rao D.S., Kupin W., Han Z.-H., Jüppner H. Hypercalcemia due to constitutive activity of the PTH/PTHrP receptor. Comparison with primary hyperparathyroidism. J Clin Endocrinol Metab 1996, 81:3584-3588.
84. 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.
85. Cameron J.A.P., Young W.B., Sissons H.A. Metaphysial dysostosis. Report of a case. J Bone Joint Surg 1954, 36B:622-629.
86. Gram P.B., Fleming J.L., Frame B., Fine G. Metaphyseal chondrodysplasia of Jansen. J Bone Joint Surg 1959, 41A:951-959.
87. Lenz W.D. Skeletal Dysplasias. The First Conference on the Clinical Delineation of Birth Defects. The Johns Hopkins Hospital 1969, 71-72. The National Foundation-March of Dimes, Baltimore, MD. D. Bergsma (Ed.).
88. Holthusen W., Holt J.F., Stoeckenius M. The skull in metaphyseal chondrodysplasia type Jansen. Pediat Radiol 1975, 3:137-144.
89. Charrow J., Poznanski A.K. The Jansen type of metaphyseal chondrodysplasia: conformation of dominant inheritance and review of radiographic manifestations in the newborn and adult. J Med Genet 1984, 18:321-327.
90. Schipani E., Langman C.B., Parfitt A.M., Jensen G.S., Kikuchi S., Kooh S.W., 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.
91. Bastepe M., Raas-Rothschild A., Silver J., Weissman I., Jüppner H., Gillis D. A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating PTH/PTHrP receptor mutation. J Clin Endocrinol Metab 2004, 89:3595-3600.
92. Savoldi G., Izzi C., Signorelli M., Bondioni M.P., Romani C., Lanzi G., et al. Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Am J Med Genet A 2013, 161:2614-2619.
93. Jaffe H.L. Certain other anomalies of skeletal development (Chapter 9) 1972, Lea and Feibiger, Philadelphia, 222-6.
94. Kessel D., Hall C.M. Shaw DG. Two unusual cases of nephrocalcinosis in infancy. Pediatr Radiol 1992, 22:470-471.
95. Onuchic L., Ferraz-de-Souza B., Mendonca B.B., Correa P.H., Martin R.M. Potential effects of alendronate on fibroblast growth factor 23 levels and effective control of hypercalciuria in an adult with Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab 2012, 97:1098-1103.
96. Kruse K., Schütz C. Calcium metabolism in the Jansen type of metaphyseal dysplasia. Eur J Pediatr 1993, 152:912-915.
97. Schipani E., Langman C.B., Hunzelman J., LeMerrer M., Loke K.Y., Dillon M.J., et al. A novel PTH/PTHrP receptor mutation in Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab 1999, 84:3052-3057.
98. Schipani E., Kruse K., Jüppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995, 268:98-100.
99. Schipani E., Jensen G.S., Pincus J., Nissenson R.A., Gardella T.J., Jüppner H. Constitutive activation of the cAMP signaling pathway by parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. Mol Endocrinol 1997, 11:851-858.
100. Blomstrand S., Claësson I., Säve-Söderbergh J. A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 1985, 15:141-143.
101. 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.
102. Leroy J.G., Keersmaeckers G., Coppens M., Dumon J.E., Roels H. Blomstrand lethal chondrodysplasia. Am J Med Genet 1996, 63:84-89.
103. 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.
104. 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.
105. Oostra R.J., Baljet B., Dijkstra P.F. Hennekam RCM. Congenital anomalies in the teratological collection of museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasia. Am J Med Genet 1998, 77:116-134.
106. Galera M., de Silva Patricio F., Lederman H., Porciuncula C., Lopes Monlleo I., Brunoni D. Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review. Pediatr Radiol 1999, 29:842-845.
107. Karperien M.C., van der Harten H.J., van Schooten R., Farih-Sips H., den Hollander N.S., Kneppers A.L.J., 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.
108. Wysolmerski J.J., Cormier S., Philbrick W., Dann P., Zhang J., Roume J., 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.
109. Decker E., Stellzig-Eisenhauer A., Fiebig B.S., Rau C., Kress W., Saar K., et al. PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am J Hum Genet 2008, 83:781-786.
110. Yamaguchi T., Hosomichi K., Narita A., Shirota T., Tomoyasu Y., Maki K., et al. Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese. J Bone Miner Res 2011, 26:1655-1661.
111. Oostra R., van der Harten J., Rijnders W., Scott R., Young M., Trump D. Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. Virchows Arch 2000, 436:28-35.
112. Jobert A.S., Zhang P., Couvineau A., Bonaventure J., Roume J., LeMerrer M., et al. Absence of functional receptors parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 1998, 102:34-40.
113. Zhang P., Jobert A.S., Couvineau A., Silve C. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab 1998, 83:3365-3368.
114. Karaplis A.C., Bin He M.T., Nguyen A., Young I.D., Semeraro D., Ozawa H., et al. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 1998, 139:5255-5258.
115. Hoogendam J., Farih-Sips H., Wynaendts L.C., Lowik C.W., Wit J.M., Karperien M. Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II. J Clin Endocrinol Metab 2007, 92:1088-1095.
116. Lanske B., Karaplis A.C., Luz A., Vortkamp A., Pirro A., Karperien M., et al. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 1996, 273:663-666.
117. Duchatelet S., Ostergaard E., Cortes D., Lemainque A., Julier C. Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet 2005, 14:1-5.
118. Hopyan S., Gokgoz N., Poon R., Gensure R., Yu C., Cole W., et al. A mutant type I PTH/PTHrP receptor in enchondromatosis. Nat Genet 2002, 30:306-310.
119. Eiken M., Prag J., Petersen K., Kaufmann H. A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. Eur J Pediatr 1984, 141:231-235.
120. Iida-Klein A., Guo J., Xie L.Y., Jüppner H., Potts J.T., Kronenberg H.M., et al. Truncation of the carboxyl-terminal region of the parathyroid hormone (PTH)/PTH-related peptide receptor enhances PTH stimulation of adenylate cyclase but not phospholipase C. J Biol Chem 1995, 270:8458-8465.
121. Couvineau A., Wouters V., Bertrand G., Rouyer C., Gerard B., Boon L.M., et al. PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum Mol Genet 2008, 17:2766-2775.
122. Rozeman L., Hameetman L., Cleton-Jansen A., Taminiau A., Hogendoorn P., Bovee J. Absence of IHH and retention of PTHrP signalling in enchondromas and central chondrosarcomas. J Pathol 2005, 205:476-482.
123. Pansuriya T.C., van Eijk R., d'Adamo P., van Ruler M.A., Kuijjer M.L., Oosting J., et al. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet 2011, 43:1256-1261.
124. Frazier-Bowers S.A., Simmons D., Wright J.T., Proffit W.R., Ackerman J.L. Primary failure of eruption and PTH1R: the importance of a genetic diagnosis for orthodontic treatment planning. Am J Orthod Dentofacial Orthop 2010, 137:160. e161-7; discussion 160-1.
125. Risom L., Christoffersen L., Daugaard-Jensen J., Hove H.D., Andersen H.S., Andresen B.S., et al. Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption. PLoS One 2013, 8. e74601.
126. Roth H., Fritsche L.G., Meier C., Pilz P., Eigenthaler M., Meyer-Marcotty P., et al. Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption. Clin Oral Investig 2014, 18:377-384.
127. Chase L.R., Aurbach G.D. Parathyroid function and the renal excretion of 3'5'-adenylic acid. Proc Natl Acad Sci USA 1967, 58:518-525.
128. Chase L.R., Fedak S.A., Aurbach G.D. Activation of skeletal adenyl cyclase by parathyroid hormone in vitro. Endocrinology 1969, 84:761-768.
129. Chase L.R., Aurbach G.D. The effect of parathyroid hormone on the concentration of adenosine 3',5'-monophosphate in skeletal tissue in vitro. J Biol Chem 1970, 245:1520-1526.
130. Marcus R., Aurbach G.D. Adenyl cyclase from renal cortex. Biochim Biophys Acta 1971, 242:410-421.
131. Chase L.R., Melson G.L., Aurbach G.D. Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone. J Clin Invest 1969, 48:1832-1844.
132. Albright F., Burnett C.H., Smith P.H., Parson W. Pseudohypoparathyroidism-an example of "Seabright-Bantam" syndrome. Endocrinology 1942, 30:922-932.
133. Marcus R., Wilber J.F., Aurbach G.D. Parathyroid hormone-sensitive adenyl cyclase from the renal cortex of a patient with pseudohypoparathyroidism. J Clin Endocrinol Metab 1971, 33:537-541.
134. Levine M.A., Downs R.W., 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 1980, 94:1319-1324.
135. Levine M.A., Eil C., Downs R.W., Spiegel A.M. 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 1983, 72:316-324.
136. Levine M.A., Jap T.S., Mauseth R.S., Downs J., Spiegel A.M. Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab 1986, 62:497-502.
137. Davies A.J., Hughes H.E. Imprinting in Albright's hereditary osteodystrophy. J Med Genet 1993, 30:101-103.
138. Long D.N., McGuire S., Levine M.A., Weinstein L.S., Germain-Lee E.L. 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 2007, 92:1073-1079.
139. Levine M.A. Pseudohypoparathyroidism. Principles of Bone Biology 2002, 1137-1159. Academic Press, New York. J.P. Bilezikian, G.A. Rodan (Eds.).
140. Linglart A., Maupetit-Mehouas S., Silve C. GNAS-related loss-of-function disorders and the role of imprinting. Horm Res Paediatr 2013, 119-129.
141. Ablow R.C., Hsia Y.E., Brandt I.K. Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. Am J Roentgenol 1977, 128:95-99.
142. Davies S.J., Hughes H.E. Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy?. Clin Dysmorphol 1992, 1:207-215.
143. Silve C., Clauser E., Linglart A. Acrodysostosis. Horm Metab Res 2012, 44:749-758.
144. Silve C., Le-Stunff C., Motte E., Gunes Y., Linglart A., Clauser E. Acrodysostosis syndromes. BoneKEy 2012, 11:21.
145. Tasken K., Skalhegg B.S., Tasken K.A., Solberg R., Knutsen H.K., Levy F.O., et al. Structure, function, and regulation of human cAMP-dependent protein kinases. Adv Second Messenger Phosphoprotein Res 1997, 31:191-204.
146. Taylor S.S., Buechler J.A., Yonemoto W. cAMP-dependent protein kinase: framework for a diverse family of regulatory enzymes. Annu Rev Biochem 1990, 59:971-1005.
147. Taylor S.S., Kim C., Chen C.Y., Brown S.H., Wu J., Kannan N. Signaling through cAMP and cAMP-dependent protein kinase: diverse strategies for drug design. Biochim Biophys Acta 2008, 1784:16-26.
148. Linglart A., Fryssira H., Hiort O., Holterhus P.M., Perez de Nanclares G., Argente J., et al. PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. J Clin Endocrinol Metab 2012, 97:E2328-E2338.
149. Shuntoh H., Steinberg R.A. Analysis of the dominance of mutations in cAMP-binding sites of murine type I cAMP-dependent protein kinase in activation of kinase from heterozygous mutant lymphoma cells. J Cell Physiol 1991, 146:86-93.
150. Lee H., Graham J.M., Rimoin D.L., Lachman R.S., Krejci P., Tompson S.W., et al. Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet 2012, 90:746-751.
151. Michot C., Le Goff C., Goldenberg A., Abhyankar A., Klein C., Kinning E., et al. Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet 2012, 90:740-745.
152. Houslay M.D., Adams D.R. PDE4 cAMP phosphodiesterases: modular enzymes that orchestrate signalling cross-talk, desensitization and compartmentalization. Biochem J 2003, 370:1-18.
153. Silverthorn K.G., Houston C.S., Duncan B.P. Murk Jansen's metaphyseal chondrodysplasia with long-term followup. Pediatr Radiol 1983, 17:119-123.
154. den Dunnen J.T., Antonarakis S.E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mut 2000, 15:7-12.
155. Minagawa M., Arakawa K., Takeuchi S., Minamitani K., Yasuda T., Niimi H. Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcriptase-polymerase chain method. Endocr J 1997, 44(4):493-499.