| 1 | ECDMM1, PTH1R
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| Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.
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| Pansuriya TC, Oosting J, Verdegaal SH, Flanagan AM, Sciot R, Kindblom LG, Hogendoorn PC, Szuhai K, Bovée JV.
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| Genes Chromosomes Cancer 50(9):673-9. doi: 10.1002/gcc.20889. Epub 2011 May 16.
2011
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| 2 | ECDMM1, PTH1R
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| PTHR1 mutations associated with Ollier disease result in receptor loss of function.
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| Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C.
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| Hum Mol Genet 17(18):2766-75. Epub 2008 Jun 17. 2008
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| 3 | PFTE, PTH1R
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| PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
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| Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Weber BH.
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| Am J Hum Genet 83(6):781-6.
2008
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| 4 | BLOD, PTH1R
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| Novel Mutations in the Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Type 1 Causing Blomstrand Osteochondrodysplasia Types I and II.
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| Hoogendam J, Farih-Sips H, Wynaendts LC, Lowik CW, Wit JM, Karperien M.
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| J Clin Endocrinol Metab 92(3):1088-95. Epub 2006 Dec 12. 2007
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| 5 | PTH1R, SLC9A3R1
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| NHERF1 Regulates Parathyroid Hormone Receptor Membrane Retention without Affecting Recycling.
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| Wang B, Bisello A, Yang Y, Romero GG, Friedman PA.
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| J Biol Chem 282(50):36214-22. Epub 2007 Sep 19. 2007
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| 6 | PTH1R
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| A docking site for G protein betagamma subunits on the parathyroid hormone 1 receptor supports signaling through multiple pathways
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| A.Mahon MJ, Bonacci TM, Divieti P, Smrcka AV
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| Mol Endocrinol. 20; 136-146 2006
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| 7 | PTH, PTH1R, PTHLH, SLC9A3R1
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| Mutation of phenylalanine-34 of parathyroid hormone disrupts NHERF1 regulation of PTH type I receptor signaling.
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| Wheeler D, Sneddon WB.
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| Endocrine 30(3):343-52.
2006
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| 8 | BLOD, CDMJ, ECDMM1, EKNS, PTH1R
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| Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
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| Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C.
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| Hum Mol Genet 14(1):1-5. Epub 2004 Nov 3. 2005
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| 9 | CDMJ, PTH1R
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| A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.
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| Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Juppner H, Gillis D.
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| J Clin Endocrinol Metab 89(7):3595-600. 2004
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| 10 | DYNLT1, DYNLT3, PTH1R
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| PTH/PTH-related protein receptor interacts directly with Tctex-1 through its COOH terminus.
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| Sugai M, Saito M, Sukegawa I, Katsushima Y, Kinouchi Y, Nakahata N, Shimosegawa T, Yanagisawa T, Sukegawa J.
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| Biochem Biophys Res Commun 311(1):24-31. 2003
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| 11 | PTH1R, SLC9A3R1, SLC9A3R2
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| Na(+)/H(+ ) exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling.
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| Mahon MJ, Donowitz M, Yun CC, Segre GV.
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| Nature 417(6891):858-61. 2002
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| 12 | CDMJ, PTH1R
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| The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia.
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| Beier F, LuValle P.
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| Mol Endocrinol 16(9):2163-73. 2002
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| 13 | ECDMM1, PTH1R
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| A mutant PTH/PTHrP type I receptor in enchondromatosis.
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| Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner H, Andrulis IL, Wunder JS, Alman BA.
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| Nat Genet 30(3):306-10. Epub 2002 Feb 19. 2002
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| 14 | BMD2, PTH1R
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| Suggestive linkage of the parathyroid receptor type 1 to osteoporosis.
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| Duncan EL, Brown MA, Sinsheimer J, Bell J, Carr AJ, Wordsworth BP, Wass JA.
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| J Bone Miner Res 14(12):1993-9. 1999
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| 15 | BLOD, PTH1R
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| Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.
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| Jobert AS, et al.
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| J Clin Invest 102 : 34-40. 1998
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| 16 | BLOD, PTH1R
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| A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.
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| Zhang P, et al.
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| J Clin Endocrinol Metab 83 : 3365-3368. 1998
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| 17 | BLOD, PTH1R
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| Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia.
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| Karaplis AC, et al.
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| Endocrinology 139 : 5255-5258. 1998
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| 18 | CDMJ, PTH1R
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| Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia.
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| Schipani E, Jensen GS, Pincus J, Nissenson RA, Gardella TJ, Juppner H.
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| Mol Endocrinol 11(7):851-8. 1997
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| 19 | CDMJ, PTH1R
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| Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia.
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| Schipani E, et al.
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| N Engl J Med 335 : 708-714. 1996
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| 20 | CDMJ, PTH1R
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| Hypercalcemia due to constitutive activity of the parathyroid hormone (PTH)/PTH-related peptide receptor : comparison with primary hyperparathyroidism.
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| Parfitt AM, et al.
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| J Clin Endocrinol Metab 81 : 3584-3588. 1996
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| 21 | PTH1R
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| PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth.
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| Lanske B, et al.
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| Science 273 : 663-666. 1996
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| 22 | IHH, PTH1R
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| Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein.
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| Vortkamp A, et al.
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| Science 273 : 613-622. 1996
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| 23 | CDMJ, PTH1R
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| A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.
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| Schipani E, et al.
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| Science 268 : 98-100. 1995
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| 24 | PTH1R
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| Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line : chromosomal assignment of the gene in the human, mouse, and rat genomes.
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| Pausova Z, et al.
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| Genomics 20 : 20-26. 1994
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| 25 | PTH1R
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| Polymorphism in exon M7 of the PTHR gene.
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| Schipani E, et al.
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| Hum Mol Genet 3 : 1210. 1994
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| 26 | PTH1R
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| Chromosomal localization of the parathyroid hormone/parathyroid hormone-related protein receptor gene to human chromosome 3p21.1-p24.2.
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| Gelbert L, et al.
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| J Clin Endocrinol Metab 79 : 1046-1048. 1994
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