| 1 | ACH, FGFR3, TNTP1, TNTP2
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| FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.
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| Matsushita T, Wilcox WR, Chan YY, Kawanami A, B�k�lmez H, Balmes G, Krejci P, Mekikian PB, Otani K, Yamaura I, Warman ML, Givol D, Murakami S.
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| Hum Mol Genet 18(2):227-40. Epub 2008 Oct 15. 2009
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| 2 | FGFR3, TNTP1, TNTP2
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| Thanatophoric dysplasia caused by double missense FGFR3 mutations.
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| Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, Serre V, Legeai-Mallet L.
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| Am J Med Genet A 149A(6):1296-301.
2009
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| 3 | MAPK1, MAPK3, TNTP1, TNTP2, FGFR3
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| Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.
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| Nowroozi N, Raffioni S, Wang T, Apostol BL, Bradshaw RA, Thompson LM.
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| Hum Mol Genet 14(11):1529-38. Epub 2005 Apr 20. 2005
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| 4 | FGFR3, TNTP2
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| The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum.
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| Lievens PM, Liboi E.
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| J Biol Chem 278(19):17344-9. Epub 2003 Mar 06. 2003
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