Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Vivi Li + 2068 word(s) 2068 2020-12-15 07:53:08

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Li, V. FGFR3 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5525 (accessed on 21 September 2026).
Li V. FGFR3 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5525. Accessed September 21, 2026.
Li, Vivi. "FGFR3 Gene" Encyclopedia, https://encyclopedia.pub/entry/5525 (accessed September 21, 2026).
Li, V. (2020, December 25). FGFR3 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5525
Li, Vivi. "FGFR3 Gene." Encyclopedia. Web. 25 December, 2020.
FGFR3 Gene
Edit

Fibroblast growth factor receptor 3: The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3. 

genes

References

  1. Arnaud-López L, Fragoso R, Mantilla-Capacho J, Barros-Núñez P. Crouzon withacanthosis nigricans. Further delineation of the syndrome. Clin Genet. 2007Nov;72(5):405-10.
  2. Brandling-Bennett HA, Morel KD. Epidermal nevi. Pediatr Clin North Am. 2010Oct;57(5):1177-98. doi: 10.1016/j.pcl.2010.07.004. Review.
  3. Cappellen D, De Oliveira C, Ricol D, de Medina S, Bourdin J, Sastre-Garau X,Chopin D, Thiery JP, Radvanyi F. Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. Nat Genet. 1999 Sep;23(1):18-20.
  4. Chen F, Degnin C, Laederich M, Horton WA, Hristova K. The A391E mutationenhances FGFR3 activation in the absence of ligand. Biochim Biophys Acta. 2011Aug;1808(8):2045-50. doi: 10.1016/j.bbamem.2011.04.007.
  5. Chen F, Sarabipour S, Hristova K. Multiple consequences of a single amino acidpathogenic RTK mutation: the A391E mutation in FGFR3. PLoS One. 2013;8(2):e56521.doi: 10.1371/journal.pone.0056521.
  6. Chen L, Deng CX. Roles of FGF signaling in skeletal development and humangenetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review.
  7. Desai SD, Vora R, Bharani S. Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome. J Pediatr Neurosci. 2014Jan;9(1):66-9. doi: 10.4103/1817-1745.131493.
  8. Eswarakumar VP, Lax I, Schlessinger J. Cellular signaling by fibroblast growthfactor receptors. Cytokine Growth Factor Rev. 2005 Apr;16(2):139-49.
  9. Hafner C, Di Martino E, Pitt E, Stempfl T, Tomlinson D, Hartmann A, LandthalerM, Knowles M, Vogt T. FGFR3 mutation affects cell growth, apoptosis andattachment in keratinocytes. Exp Cell Res. 2010 Jul 15;316(12):2008-16. doi:10.1016/j.yexcr.2010.04.021.
  10. Hafner C, Hartmann A, van Oers JM, Stoehr R, Zwarthoff EC, Hofstaedter F,Landthaler M, Vogt T. FGFR3 mutations in seborrheic keratoses are already presentin flat lesions and associated with age and localization. Mod Pathol. 2007Aug;20(8):895-903.
  11. Hafner C, Toll A, Fernández-Casado A, Earl J, Marqués M, Acquadro F,Méndez-Pertuz M, Urioste M, Malats N, Burns JE, Knowles MA, Cigudosa JC, HartmannA, Vogt T, Landthaler M, Pujol RM, Real FX. Multiple oncogenic mutations andclonal relationship in spatially distinct benign human epidermal tumors. ProcNatl Acad Sci U S A. 2010 Nov 30;107(48):20780-5. doi: 10.1073/pnas.1008365107.
  12. Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A. Mosaicism of activating FGFR3 mutations in humanskin causes epidermal nevi. J Clin Invest. 2006 Aug;116(8):2201-2207.
  13. Hernández S, Toll A, Baselga E, Ribé A, Azua-Romeo J, Pujol RM, Real FX.Fibroblast growth factor receptor 3 mutations in epidermal nevi and associatedlow grade bladder tumors. J Invest Dermatol. 2007 Jul;127(7):1664-6.
  14. Horton WA, Lunstrum GP. Fibroblast growth factor receptor 3 mutations inachondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002Dec;3(4):381-5. Review.
  15. L'Hôte CG, Knowles MA. Cell responses to FGFR3 signalling: growth,differentiation and apoptosis. Exp Cell Res. 2005 Apr 1;304(2):417-31.
  16. Lievens PM, Liboi E. The thanatophoric dysplasia type II mutation hamperscomplete maturation of fibroblast growth factor receptor 3 (FGFR3), whichactivates signal transducer and activator of transcription 1 (STAT1) from theendoplasmic reticulum. J Biol Chem. 2003 May 9;278(19):17344-9.
  17. Robertson AG, Kim J, Al-Ahmadie H, Bellmunt J, Guo G, Cherniack AD, Hinoue T, Laird PW, Hoadley KA, Akbani R, Castro MAA, Gibb EA, Kanchi RS, Gordenin DA,Shukla SA, Sanchez-Vega F, Hansel DE, Czerniak BA, Reuter VE, Su X, de SaCarvalho B, Chagas VS, Mungall KL, Sadeghi S, Pedamallu CS, Lu Y, Klimczak LJ,Zhang J, Choo C, Ojesina AI, Bullman S, Leraas KM, Lichtenberg TM, Wu CJ, SchultzN, Getz G, Meyerson M, Mills GB, McConkey DJ; TCGA Research Network, WeinsteinJN, Kwiatkowski DJ, Lerner SP. Comprehensive Molecular Characterization ofMuscle-Invasive Bladder Cancer. Cell. 2018 Aug 9;174(4):1033. doi:10.1016/j.cell.2018.07.036.
  18. Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A,Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, LehnerdtK, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van BokhovenH, Wollnik B. Mutations in different components of FGF signaling in LADDsyndrome. Nat Genet. 2006 Apr;38(4):414-7.Genet. 2006 Apr;38(4):495. Kubisch, Chriütian [corrected to Kubisch, Christian].
  19. Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, WhitbyFG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. A novel mutation in FGFR3 causescamptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet. 2006 Nov;79(5):935-41.
  20. Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis offibroblast growth factor receptor 3 disorders: the achondroplasia family ofskeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome withacanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. Review.
  21. van Rhijn BW, van Tilborg AA, Lurkin I, Bonaventure J, de Vries A, Thiery JP, van der Kwast TH, Zwarthoff EC, Radvanyi F. Novel fibroblast growth factorreceptor 3 (FGFR3) mutations in bladder cancer previously identified innon-lethal skeletal disorders. Eur J Hum Genet. 2002 Dec;10(12):819-24.
  22. Zieger K, Dyrskjøt L, Wiuf C, Jensen JL, Andersen CL, Jensen KM, Ørntoft TF.Role of activating fibroblast growth factor receptor 3 mutations in thedevelopment of bladder tumors. Clin Cancer Res. 2005 Nov 1;11(21):7709-19.
More
Upload a video for this entry
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 1.3K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes No
Academic Video Service