FGFR3


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FGFR3

A gene located on chromosome 4p16.3, which encodes fibroblast growth-factor receptor 3, one of the mitogenic signalling molecules with roles in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development.

Molecular pathology
Mutations are linked to achondroplasia, craniosynostosis and multiple forms of skeletal dysplasia. It is up-regulated in cell transformation and some cancers.
References in periodicals archive ?
FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma.
WHSC1 and FGFR3 were deleted in the patients detected by array CGH, and the absence of expression of these two gene has been associated with the typical craniofacial features of WHS, obvious growth delay, and skeletal disorders.
FGFR3 level was much higher in SNI group than that of sham group and normal group (P < 0.
Drugs are currently being made to target this protein - FGFR3 - in other types of cancers.
tropicalis, FGFR3 is expressed in the developing lens, FGFR2 is prominently expressed in corneal epithelium, and FGFR1 and FGFR4 are expressed in "cells surrounding the lens" in early tadpoles (Lea et al.
The mutation results in the activation of FGFR3 tyrosine kinase independently of ligands such as fibroblast growth factor 8.
En ambas situaciones, el cambio del aminoacido arginina por una glicina se observa en la cadena de aminoacidos de la proteina FGFR3.
To illustrate, the FGFR3 gene received a confirmed classification, due to its combination with the phrase "implicated in bladder carcinogenesis" in OMIM record #109800 for bladder cancer [29] and for its presence in the Genetics Home Reference bladder cancer condition record indicating that it is "associated with bladder cancer" [30].
A su vez, estas translocaciones estan relacionadas a la expresion de diversos oncogenes como CCDN1, CCDN3, FGFR3 y familia MAF, cuya expresion produce otras alteraciones geneticas, como la expresion de MYC, que no se encuentran relacionadas con el proceso de diferenciacion de las celulas B.
Anne Goriely of the University of Oxford and her colleagues took tumour cells from men with benign testicular tumours and looked for specific mutations in the FGFR3 and HRAS genes.
Previously pathogenetically unclarified, the genetic cause of LADD syndrome has been identified as heterozygous mutations in the encoding of fibroblast growth factor receptors FGFR2 and FGFR3.
No ha sido reportado predominio por sexo; la mayoria de los autores proponen un patron de herencia autosomica dominante, producida por una mutacion en el receptor 3 del factor de crecimiento de fibroblastos FGFR3 en el cromosoma 4p16,3; porque una copia mutada del gen FGFR3 en cada celula es suficiente para causar esta condicion.