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.
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References in periodicals archive ?
FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma.
Precursor Lesions of Urologic Malignancies
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.
Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization
FGFR3 level was much higher in SNI group than that of sham group and normal group (P < 0.
Analgesic effect of total flavonoids from Sanguis draxonis on spared nerve injury rat model of neuropathic pain
Drugs are currently being made to target this protein - FGFR3 - in other types of cancers.
Coming soon: Drugs that will stop breast cancer from recurring
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.
FGF signaling is required for lens regeneration in Xenopus laevis
The mutation results in the activation of FGFR3 tyrosine kinase independently of ligands such as fibroblast growth factor 8.
Thanatophoric dysplasia: a rare entity
En ambas situaciones, el cambio del aminoacido arginina por una glicina se observa en la cadena de aminoacidos de la proteina FGFR3.
Receptor 3 del factor de crecimiento (FGFR3) localizado en el cromosoma 4. Atencion pediatrica en pacientes con displasia osea genetica, acondroplasia
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].
Biomedical text summarization to support genetic database curation: using Semantic MEDLINE to create a secondary database of genetic information
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.
Comite organizador XXI Congreso Estudiantil Colombiano de Investigacion Medica, CECIM 2010
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.
Benign testicular tumours and genetic disease
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.
Case report: presentation of lacrimo-auriculodento-digital (LADD) syndrome in a young female patient
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.
Displasia tanatoforica. Reporte de un caso y revision

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