| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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