| 1 | FGF8, FGFR3
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| FGF8 and FGFR3 are up-regulated in hypertrophic chondrocytes: Association with chondrocyte death in deep zone of Kashin-Beck disease.
|
| Liu H, Fang Q, Wang M, Wang W, Zhang M, Zhang D, He Y, Zhang Y, Wang H, Otero M, Ma T, Chen J.
|
| Biochem Biophys Res Commun 500(2):184-190. doi: 10.1016/j.bbrc.2018.04.023. Epub 2018 Apr 17.
2018
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| 2 | FENS, FGFR3
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| Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation.
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| Bessis D, Plaisancié J, Gaston V, Bieth E.
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| Acta Derm Venereol 97(3):402-403. doi: 10.2340/00015555-2554.
2017
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| 3 | FGFR3, FGFR4
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| FGF receptors control alveolar elastogenesis.
|
| Li R, Herriges JC, Chen L, Mecham RP, Sun X.
|
| Development 144(24):4563-4572. doi: 10.1242/dev.149443. Epub 2017 Nov 9.
2017
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| 4 | ACH, FGFR3
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| Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles.
|
| Sarabipour S, Hristova K.
|
| Biochim Biophys Acta 1858(7 Pt A):1436-42. doi: 10.1016/j.bbamem.2016.03.027. Epub 2016 Mar 31.
2016
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| 5 | BGN, FGF1, FGFR3
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| Biglycan is a novel binding partner of fibroblast growth factor receptor 3c (FGFR3c) in the human testis.
|
| Winge SB, Nielsen J, Jørgensen A, Owczarek S, Ewen KA, Nielsen JE, Juul A, Berezin V, Rajpert-De Meyts E.
|
| Mol Cell Endocrinol 399:235-43. doi: 10.1016/j.mce.2014.09.018. Epub 2014 Sep 23.
2015
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| 6 | FGFR3
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| Nuclear translocation of fibroblast growth factor receptor 3 and its significance in pancreatic cancer.
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| Zhou L, Yao LT, Liang ZY, Zhou WX, You L, Shao QQ, Huang S, Guo JC, Zhao YP.
|
| Int J Clin Exp Pathol 8(11):14640-8. eCollection 2015 Nov 1.
2015
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| 7 | FGFR3
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| FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling.
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| Zhou S, Xie Y, Tang J, Huang J, Huang Q, Xu W, Wang Z, Luo F, Wang Q, Chen H, Du X, Shen Y, Chen D, Chen L.
|
| PLoS Genet 11(6):e1005214. doi: 10.1371/journal.pgen.1005214. eCollection 2015 Jun 19.
2015
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| 8 | FGFR3
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| A novel variant of FGFR3 causes proportionate short stature.
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| Kant SG, Cervenkova I, Balek L, Trantirek L, Santen GW, de Vries MC, van Duyvenvoorde HA, van der Wielen MJ, Verkerk AJ, Uitterlinden AG, Hannema SE, Wit JM, Oostdijk W, Krejci P, Losekoot M.
|
| Eur J Endocrinol 172(6):763-70. doi: 10.1530/EJE-14-0945. Epub 2015 Mar 16.
2015
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| 9 | FGFR3, PTPN1, PTPN2
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| Differential regulation of FGFR3 by PTPN1 and PTPN2.
|
| St-Germain JR, Taylor P, Zhang W, Li Z, Ketela T, Moffat J, Neel BG, Trudel S, Moran MF.
|
| Proteomics 15(2-3):419-33. doi: 10.1002/pmic.201400259. Epub 2014 Dec 17.
2015
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| 10 | BMPR1A, FGFR3, SMURF1
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| FGFR3 induces degradation of BMP type I receptor to regulate skeletal development.
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| Qi H, Jin M, Duan Y, Du X, Zhang Y, Ren F, Wang Y, Tian Q, Wang X, Wang Q, Zhu Y, Xie Y, Liu C, Cao X, Mishina Y, Chen D, Deng CX, Chang Z, Chen L.
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| Biochim Biophys Acta 1843(7):1237-47. doi: 10.1016/j.bbamcr.2014.03.011. Epub 2014 Mar 20.
2014
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| 11 | FGFR3
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| The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate.
|
| Krejci P.
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| Mutat Res Rev Mutat Res 759:40-8. doi: 10.1016/j.mrrev.2013.11.001. Epub 2013 Dec 1. Review.
2014
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| 12 | BAIAP2L1, FGFR3
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| Oncogenic FGFR3 gene fusions in bladder cancer.
|
| Williams SV, Hurst CD, Knowles MA.
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| Hum Mol Genet 22(4):795-803. doi: 10.1093/hmg/dds486. Epub 2012 Nov 21.
2013
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| 13 | FGFR1, FGFR3
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| Fibroblast growth factor receptors-1 and -3 play distinct roles in the regulation of bladder cancer growth and metastasis: implications for therapeutic targeting.
|
| Cheng T, Roth B, Choi W, Black PC, Dinney C, McConkey DJ.
|
| PLoS One 8(2):e57284. doi: 10.1371/journal.pone.0057284. Epub 2013 Feb 26.
2013
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| 14 | FGF23, FGFR3, KL
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| FGF23 suppresses chondrocyte proliferation in the presence of soluble α-Klotho both in vitro and in vivo.
|
| Kawai M, Kinoshita S, Kimoto A, Hasegawa Y, Miyagawa K, Yamazaki M, Ohata Y, Ozono K, Michigami T.
|
| J Biol Chem 288(4):2414-27. doi: 10.1074/jbc.M112.410043. Epub 2012 Dec 12.
2013
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| 15 | FGFR3
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| Structure of FGFR3 transmembrane domain dimer: implications for signaling and human pathologies.
|
| Bocharov EV, Lesovoy DM, Goncharuk SA, Goncharuk MV, Hristova K, Arseniev AS.
|
| Structure 21(11):2087-93. doi: 10.1016/j.str.2013.08.026. Epub 2013 Oct 10.
2013
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| 16 | FGFR3
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| The pathogenic A391E mutation in FGFR3 induces a structural change in the transmembrane domain dimer.
|
| Mudumbi KC, Julius A, Herrmann J, Li E.
|
| J Membr Biol 246(6):487-93. doi: 10.1007/s00232-013-9563-6. Epub 2013 Jun 1.
2013
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| 17 | ACH, FGFR3
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| Evaluation of the Therapeutic Potential of a CNP Analog in a Fgfr3 Mouse Model Recapitulating Achondroplasia.
|
| Lorget F, Kaci N, Peng J, Benoist-Lasselin C, Mugniery E, Oppeneer T, Wendt DJ, Bell SM, Bullens S, Bunting S, Tsuruda LS, O'Neill CA, Di Rocco F, Munnich A, Legeai-Mallet L.
|
| Am J Hum Genet 91(6):1108-14. doi: 10.1016/j.ajhg.2012.10.014. Epub 2012 Nov 29.
2012
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| 18 | FGFR3
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| Fibroblast growth factor receptor 3 regulates microtubule formation and cell surface mechanical properties in the developing organ of Corti.
|
| Szarama KB, Stepanyan R, Petralia RS, Gavara N, Frolenkov GI, Kelley MW, Chadwick RS.
|
| Bioarchitecture 2(6):214-9. doi: 10.4161/bioa.22332.
2012
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| 19 | FGFR3, SCD, SREBF1
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| FGFR3 stimulates stearoyl CoA desaturase 1 activity to promote bladder tumor growth.
|
| Du X, Wang QR, Chan E, Merchant M, Liu J, French D, Ashkenazi A, Qing J.
|
| Cancer Res 72(22):5843-55. doi: 10.1158/0008-5472.CAN-12-1329. Epub 2012 Sep 26.
2012
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| 20 | FGFR3, HCH
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| New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
|
| Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, Park YE, Kim SG, Song HR.
|
| Am J Med Genet A 158A(10):2456-62. doi: 10.1002/ajmg.a.35564. Epub 2012 Aug 17.
2012
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| 21 | FGFR3
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| Fibroblast growth factor receptor 3 is highly expressed in rarely dividing human type A spermatogonia.
|
| von Kopylow K, Staege H, Schulze W, Will H, Kirchhoff C.
|
| Histochem Cell Biol 138(5):759-72. doi: 10.1007/s00418-012-0991-7. Epub 2012 Jul 10.
2012
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| 22 | FGFR3
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| An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth.
|
| Mugniery E, Dacquin R, Marty C, Benoist-Lasselin C, de Vernejoul MC, Jurdic P, Munnich A, Geoffroy V, Legeai-Mallet L.
|
| Hum Mol Genet 21(11):2503-13. doi: 10.1093/hmg/dds065. Epub 2012 Feb 24.
2012
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| 23 | FGFR3
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| A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model.
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| Jonquoy A, Mugniery E, Benoist-Lasselin C, Kaci N, Le Corre L, Barbault F, Girard AL, Le Merrer Y, Busca P, Schibler L, Munnich A, Legeai-Mallet L.
|
| Hum Mol Genet 21(4):841-51. doi: 10.1093/hmg/ddr514. Epub 2011 Nov 9.
2012
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| 24 | FGF21, FGFR1, FGFR3, MAPK3
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| Fibroblast growth factor 21 (FGF21) inhibits chondrocyte function and growth hormone action directly at the growth plate.
|
| Wu S, Levenson A, Kharitonenkov A, De Luca F.
|
| J Biol Chem 287(31):26060-7. doi: 10.1074/jbc.M112.343707. Epub 2012 Jun 13.
2012
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| 25 | FGFR1, FGFR3, TACC1, TACC3
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| Transforming fusions of FGFR and TACC genes in human glioblastoma.
|
| Singh D, Chan JM, Zoppoli P, Niola F, Sullivan R, Castano A, Liu EM, Reichel J, Porrati P, Pellegatta S, Qiu K, Gao Z, Ceccarelli M, Riccardi R, Brat DJ, Guha A, Aldape K, Golfinos JG, Zagzag D, Mikkelsen T, Finocchiaro G, Lasorella A, Rabadan R, Iavarone A.
|
| Science 337(6099):1231-5. doi: 10.1126/science.1220834.
2012
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| 26 | FGFR3
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| A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.
|
| Jin M, Yu Y, Qi H, Xie Y, Su N, Wang X, Tan Q, Luo F, Zhu Y, Wang Q, Du X, Xian CJ, Liu P, Huang H, Shen Y, Deng CX, Chen D, Chen L.
|
| Hum Mol Genet 21(26):5443-55. doi: 10.1093/hmg/dds390. Epub 2012 Sep 26.
2012
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| 27 | FGFR3, SHOX
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| FGFR3 is a target of the homeobox transcription factor SHOX in limb development.
|
| Decker E, Durand C, Bender S, Rödelsperger C, Glaser A, Hecht J, Schneider KU, Rappold G.
|
| Hum Mol Genet 20(8):1524-35. Epub 2011 Jan 27.
2011
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| 28 | DEFA5, FGFR3, TCF4
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| Fibroblast growth factor receptor-3 (FGFR-3) regulates expression of paneth cell lineage-specific genes in intestinal epithelial cells through both TCF4/beta-catenin-dependent and -independent signaling pathways.
|
| Brodrick B, Vidrich A, Porter E, Bradley L, Buzan JM, Cohn SM.
|
| J Biol Chem 286(21):18515-25. Epub 2011 Mar 9.
2011
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| 29 | CDC37, FGFR3
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| Fibroblast growth factor receptor 3 (FGFR3) is a strong heat shock protein 90 (Hsp90) client: implications for therapeutic manipulation.
|
| Laederich MB, Degnin CR, Lunstrum GP, Holden P, Horton WA.
|
| J Biol Chem 286(22):19597-604. Epub 2011 Apr 12.
2011
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| 30 | FGFR1, FGFR2, FGFR3
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| Fibroblast growth factor signaling is required for the generation of oligodendrocyte progenitors from the embryonic forebrain.
|
| Furusho M, Kaga Y, Ishii A, Hébert JM, Bansal R.
|
| J Neurosci 31(13):5055-66. doi: 10.1523/JNEUROSCI.4800-10.2011.
2011
|
| 31 | FGF18, FGFR3, GLG1
|
| Retention in the Golgi apparatus and expression on the cell surface of Cfr/Esl-1/Glg-1/MG-160 are regulated by two distinct mechanisms.
|
| Miyaoka Y, Kato H, Ebato K, Saito S, Miyata N, Imamura T, Miyajima A.
|
| Biochem J 440(1):33-41. doi: 10.1042/BJ20110318.
2011
|
| 32 | FGFR3, SADDAN
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| SADDAN syndrome.
|
| Kumar KV, Shaikh A, Sharma R, Prusty P.
|
| J Pediatr Endocrinol Metab 24(9-10):851-2.
2011
|
| 33 | FGFR3
|
| The physical basis of FGFR3 response to fgf1 and fgf2.
|
| Chen F, Hristova K.
|
| Biochemistry 50(40):8576-82. doi: 10.1021/bi200986f. Epub 2011 Sep 16.
2011
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| 34 | FGFR3
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| Ligand activation leads to regulated intramembrane proteolysis of fibroblast growth factor receptor 3.
|
| Degnin CR, Laederich MB, Horton WA.
|
| Mol Biol Cell 22(20):3861-73. doi: 10.1091/mbc.E11-01-0080. Epub 2011 Aug 24.
2011
|
| 35 | FGFR1, FGFR3
|
| Clathrin- and dynamin-independent endocytosis of FGFR3--implications for signalling.
|
| Haugsten EM, Zakrzewska M, Brech A, Pust S, Olsnes S, Sandvig K, Wesche J.
|
| PLoS One 6(7):e21708. doi: 10.1371/journal.pone.0021708. Epub 2011 Jul 14.
2011
|
| 36 | FGFR3
|
| A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
|
| Kiemeney LA, Sulem P, Besenbacher S, Vermeulen SH, Sigurdsson A, Thorleifsson G, Gudbjartsson DF, Stacey SN, Gudmundsson J, Zanon C, Kostic J, Masson G, Bjarnason H, Palsson ST, Skarphedinsson OB, Gudjonsson SA, Witjes JA, Grotenhuis AJ, Verhaegh GW, Bishop DT, Sak SC, Choudhury A, Elliott F, Barrett JH, Hurst CD, de Verdier PJ, Ryk C, Rudnai P, Gurzau E, Koppova K, Vineis P, Polidoro S, Guarrera S, Sacerdote C, Campagna M, Placidi D, Arici C, Zeegers MP, Kellen E, Gutierrez BS, Sanz-Velez JI, Sanchez-Zalabardo M, Valdivia G, Garcia-Prats MD, Hengstler JG, Blaszkewicz M, Dietrich H, Ophoff RA, van den Berg LH, Alexiusdottir K, Kristjansson K, Geirsson G, Nikulasson S, Petursdottir V, Kong A, Thorgeirsson T, Mungan NA, Lindblom A, van Es MA, Porru S, Buntinx F, Golka K, Mayordomo JI, Kumar R, Matullo G, Steineck G, Kiltie AE, Aben KK, Jonsson E, Thorsteinsdottir U, Knowles MA, Rafnar T, Stefansson K.
|
| Nat Genet 42(5):415-9. Epub 2010 Mar 28.PMID: 20348956 2010
|
| 37 | DEL11QD, DEL7P21, DEL9P, DUP5Q35, FGFR2, FGFR3, MSX2, TWIST
|
| Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
|
| Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA.
|
| Pediatrics 126(2):e391-400. Epub 2010 Jul 19.PMID: 20643727 2010
|
| 38 | ACH, FGFR3
|
| Physical basis behind achondroplasia, the most common form of human dwarfism.
|
| He L, Horton W, Hristova K.
|
| J Biol Chem 285(39):30103-14. Epub 2010 Jul 12.
2010
|
| 39 | 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
|
| 40 | FGFR3
|
| Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
|
| Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG.
|
| Clin Genet 75(2):150-6.
2009
|
| 41 | FGFR3, RPS6KA3
|
| Fibroblast growth factor receptor 3 associates with and tyrosine phosphorylates p90 RSK2, leading to RSK2 activation that mediates hematopoietic transformation.
|
| Kang S, Elf S, Dong S, Hitosugi T, Lythgoe K, Guo A, Ruan H, Lonial S, Khoury HJ, Williams IR, Lee BH, Roesel JL, Karsenty G, Hanauer A, Taunton J, Boggon TJ, Gu TL, Chen J.
|
| Mol Cell Biol 29(8):2105-17. Epub 2009 Feb 17.
2009
|
| 42 | 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
|
| 43 | FGFR3, SPRY4
|
| Cell adaptation to activated FGFR3 includes Sprouty4 up regulation to inhibit the receptor-mediated ERKs activation from the endoplasmic reticulum.
|
| Lievens PM, Zanolli E, Garofalo S, Liboi E.
|
| FEBS Lett 583(19):3254-8. Epub 2009 Sep 15.PMID: 19761767 2009
|
| 44 | FGFR3, HRAS
|
| Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
|
| Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP, McVean GA, Meyts ER, Wilkie AO.
|
| Nat Genet 41(11):1247-52. Epub 2009 Oct 25.PMID: 19855393 2009
|
| 45 | FGFR3
|
| Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.
|
| Friez MJ, Wilson JA.
|
| Eur J Hum Genet 16(3):277-8. Epub 2007 Sep 26. No abstract available. 2008
|
| 46 | FENS, FGFR3
|
| An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation.
|
| García-Vargas A, Hafner C, Pérez-RodrÃguez AG, RodrÃguez-Rojas LX, González-Esqueda P, Stoehr R, Hernández-Torres M, Happle R.
|
| Am J Med Genet A 146A(17):2275-9. 2008
|
| 47 | FGFR3, SADDAN
|
| Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
|
| Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T.
|
| Am J Med Genet A 146A(2):212-8.
2008
|
| 48 | EFNB1, FGFR1, FGFR2, FGFR3, MSX2, RAB23, TWIST1
|
| Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
|
| Passos-Bueno MR, Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E.
|
| Front Oral Biol 12:107-43. Review.
2008
|
| 49 | ARHGEF17, DENN2D, FGFR3
|
| Identification of ARHGEF17, DENND2D, FGFR3, and RB1 mutations in melanoma by inhibition of nonsense-mediated mRNA decay.
|
| Bloethner S, Mould A, Stark M, Hayward NK.
|
| Genes Chromosomes Cancer 47(12):1076-85.
2008
|
| 50 | FGF23, FGFR3, FGFR4
|
| FGFR3 and FGFR4 do not mediate renal effects of FGF23.
|
| Liu S, Vierthaler L, Tang W, Zhou J, Quarles LD.
|
| J Am Soc Nephrol 19(12):2342-50. Epub 2008 Aug 27.PMID: 18753255 2008
|
| 51 | FGF18, FGFR3
|
| FGFR3 contributes to intestinal crypt cell growth arrest.
|
| Arnaud-Dabernat S, Yadav D, Sarvetnick N.
|
| J Cell Physiol 216(1):261-8.PMID: 18286540 2008
|
| 52 | FGFR3
|
| Skeletal overgrowth is mediated by deficiency in a specific isoform of fibroblast growth factor receptor 3.
|
| Eswarakumar VP, Schlessinger J.
|
| Proc Natl Acad Sci U S A 104(10):3937-42. Epub 2007 Feb 23. 2007
|
| 53 | FGFR3, PIK3CA
|
| Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern.
|
| Hafner C, Lopez-Knowles E, Luis NM, Toll A, Baselga E, Fernandez-Casado A, Hernandez S, Ribe A, Mentzel T, Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX.
|
| Proc Natl Acad Sci U S A 104(33):13450-4. Epub 2007 Aug 2. 2007
|
| 54 | FENS, FGFR3, HCH
|
| Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
| Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR.
|
| Am J Med Genet A 143(24):3144-9. 2007
|
| 55 | FGFR3, CRS10
|
| Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
|
| Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M.
|
| Am J Med Genet A 143(24):3204-15. 2007
|
| 56 | FGFR3
|
| FGFR3 intracellular mutations induce tyrosine phosphorylation in the Golgi and defective glycosylation.
|
| Gibbs L, Legeai-Mallet L.
|
| Biochim Biophys Acta 1773(4):502-12. Epub 2007 Jan 20.
2007
|
| 57 | FGFR3
|
| Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors.
|
| Hernández S, Toll A, Baselga E, Ribé A, Azua-Romeo J, Pujol RM, Real FX.
|
| J Invest Dermatol 127(7):1664-6. Epub 2007 Jan 25. Review.
2007
|
| 58 | FGFR3
|
| FGFR3 mutations in seborrheic keratoses are already present in flat lesions and associated with age and localization.
|
| Hafner C, Hartmann A, van Oers JM, Stoehr R, Zwarthoff EC, Hofstaedter F, Landthaler M, Vogt T.
|
| Mod Pathol 20(8):895-903. Epub 2007 Jun 22.
2007
|
| 59 | FGFR3, SNAI1
|
| Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias.
|
| de Frutos CA, Vega S, Manzanares M, Flores JM, Huertas H, Martínez-Frías ML, Nieto MA.
|
| Dev Cell 13(6):872-83.PMID: 18061568 2007
|
| 60 | FGFR2, FGFR3, FGF10, LADD1, LADD2, LADD3
|
| Mutations in different components of FGF signaling in LADD syndrome.
|
| Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B.
|
| Nat Genet 38(4):414-7. Epub 2006 Feb 26. 2006
|
| 61 | LADD1, FGFR2, LADD2, FGFR3, LADD3, FGF10
|
| Still more from FGFR: LADD syndrome caused by different mutations in FGFR and their ligands.
|
| Timmerman M.
|
| Clin Genet 70(1):17-9. No abstract available. 2006
|
| 62 | FGFR3, CATSHL
|
| A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome.
|
| Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ.
|
| Am J Hum Genet 79(5):935-941. Epub 2006 Sep 26. 2006
|
| 63 | FGFR3, ACH, HCH
|
| Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
|
| Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J.
|
| Eur J Hum Genet 14(12):1240-7. Epub 2006 Aug 16. Erratum in: Eur J Hum Genet. 2006 Dec;14(12):1321. 2006
|
| 64 | FGFR2, FGFR3, TWIST1, EFNB1, CRS, CRS2
|
| Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
|
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| Keegan K, et al.
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| Cytogenet Cell Genet 62 : 172-175. 1993
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| 152 | FGFR3
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| Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3.
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| Keegan K, et al.
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| Proc Natl Acad Sci U S A 88 : 1095-1099. 1991
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| 153 | FGFR3
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| A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.
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| Thompsom LM, et al.
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| Genomics 11 : 1133-1142. 1991
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