| 1 | ACH, FGFR3, TNTP1, TNTP2
|
| FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.
|
| 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.
|
| Hum Mol Genet 18(2):227-40. Epub 2008 Oct 15. 2009
|
| 2 | FGFR3, TNTP1, TNTP2
|
| Thanatophoric dysplasia caused by double missense FGFR3 mutations.
|
| Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, Serre V, Legeai-Mallet L.
|
| Am J Med Genet A 149A(6):1296-301.
2009
|
| 3 | MAPK1, MAPK3, TNTP1, TNTP2, FGFR3
|
| Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.
|
| Nowroozi N, Raffioni S, Wang T, Apostol BL, Bradshaw RA, Thompson LM.
|
| Hum Mol Genet 14(11):1529-38. Epub 2005 Apr 20. 2005
|
| 4 | FGFR3, TNTP1
|
| Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia.
|
| Legeai-Mallet L, et al.
|
| J Biol Chem 273 : 13007-13014. 1998
|
| 5 | ACH, FGFR3, TNTP1
|
| Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts.
|
| Nguyen HB, Estacion M, Gargus JJ.
|
| Hum Mol Genet 6(5):681-8. 1997
|
| 6 | FGFR3, TNTP1
|
| Abnormal FGFR3 expression in cartilage of thanatophoric dysplasia fetuses.
|
| Delezoide AL, Lasselin-Benoist C, Legeai-Mallet L, Brice P, Senee V, Yayon A, Munnich A, Vekemans M, Bonaventure J.
|
| Hum Mol Genet 6(11):1899-906. 1997
|
| 7 | TNTP1, FGFR3
|
| Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
|
| Rousseau F, et al.
|
| Hum Mol Genet 5 : 509-512. 1996
|
| 8 | FGFR3, TNTP1, ACH
|
| Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
|
| Bonaventure J, et al.
|
| Am J Med Genet 63 : 148-154. 1996
|
| 9 | TNTP1
|
| Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
|
| Nerlich AG, et al.
|
| Am J Med Genet 63 : 155-160. 1996
|
| 10 | FGFR3, ACH, TNTP1
|
| Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.
|
| Naski MC, et al.
|
| Nat Genet 13 : 233-237. 1996
|
| 11 | TNTP1, FGFR3
|
| Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II.
|
| Webster MK, et al.
|
| Mol Cell Biol 16 : 4081-4087. 1996
|
| 12 | FGFR3, TNTP1
|
| Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.
|
| Pokharel RK, et al.
|
| Biochem Biophys Res Commun 227 : 236-239. 1996
|
| 13 | FGFR3, TNTP1
|
| Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type 1.
|
| Tavormina PL, et al.
|
| Hum Mol Genet 4 : 2175-2177. 1995
|
| 14 | TNTP1, FGFR3
|
| Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
|
| Tavormina PL, et al.
|
| Nat Genet 9 : 321-328. 1995
|
| 15 | FGFR3, TNTP1
|
| Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
|
| Rousseau F, et al.
|
| Nat Genet 10 : 11-12. 1995
|