| 1 | MMP2, NAO
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| Loss of MMP-2 in murine osteoblasts upregulates osteopontin and bone sialoprotein expression in a circuit regulating bone homeostasis.
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| Mosig RA, Martignetti JA.
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| Dis Model Mech 6(2):397-403. doi: 10.1242/dmm.007914. Epub 2012 Aug 23.
2013
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| 2 | MMP2, NAO
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| Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.
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| Tüysüz B, Bariş S, Aksoy F, Madazli R, Ungür S, Sever L.
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| Am J Med Genet A 149A(8):1727-33.
2009
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| 3 | MMP2,NAO
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| Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.
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| Mosig RA, Dowling O, Difeo A, Ramirez MC, Parker IC, Abe E, Diouri J, Aqeel AA, Wylie JD, Oblander SA, Madri J, Bianco P, Apte SS, Zaidi M, Doty SB, Majeska RJ, Schaffler MB, Martignetti JA.
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| Hum Mol Genet 16(9):1113-23. Epub 2007 Mar 30. 2007
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| 4 | MMP2, NAO, WINCH
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| Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.
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| Zankl A, Pachman L, Poznanski A, Bonafé L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A.
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| J Bone Miner Res 22(2):329-33.
2007
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| 5 | MMP2, NAO
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| A crucial role for matrix metalloproteinase 2 in osteocytic canalicular formation and bone metabolism.
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| Inoue K, Mikuni-Takagaki Y, Oikawa K, Itoh T, Inada M, Noguchi T, Park JS, Onodera T, Krane SM, Noda M, Itohara S.
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| J Biol Chem 281(44):33814-24. Epub 2006 Sep 7.
2006
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| 6 | MMP2, WINCH, NAO
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| A novel homozygous MMP2 mutation in a family with Winchester syndrome.
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| Rouzier C, Vanatka R, Bannwarth S, Philip N, Coussement A, Paquis-Flucklinger V, Lambert JC.
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| Clin Genet 69(3):271-6. 2006
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| 7 | MMP2, NAO, WINCH
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| Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
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| Zankl A, Bonafe L, Calcaterra V, Di Rocco M, Superti-Furga A.
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| Clin Genet 67(3):261-6. 2005
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| 8 | NAO, EDS7C, HSCR5, HYP1, MADYS2, PYCD, PALS, ALPS2, LGMD2A, CASP8D, CYLD
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| The genetic and molecular bases of monogenic disorders affecting proteolytic systems.
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| Richard I.
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| J Med Genet 42(7):529-39. 2005
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| 9 | MMP2, NAO
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| Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.
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| Martignetti JA, Aqeel AA, Sewairi WA, Boumah CE, Kambouris M, Mayouf SA, Sheth KV, Eid WA, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ.
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| Nat Genet 28(3):261-5. 2001
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| 10 | NAO
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| New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome.
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| Al-Mayouf SM, Majeed M, Hugosson C, Bahabri S.
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| Am J Med Genet 93(1):5-10. Review. 2000
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