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 ?
Luminal UC was enriched with papillary morphology, FGFR3 mutations, and erb-b2 receptor tyrosine kinase 2 (ERBB2) amplifications, and their gene expression profiles were controlled by peroxisome proliferator activator receptor [gamma] (PPAR[gamma]).
Activating mutations of FGFR3, which have an effect on the negative regulation of cartilage growth are encountered in hypochondroplasia and achondroplasia (10).
One research recently further demonstrated that FGFR3 was targeted by miR-243p in multiple myeloma [16].
The results confirmed that alterations involving RB1 and NFE2L2 were enriched in basal cancers, whereas alterations involving FGFR3 and KDM6A were enriched in luminal tumors [41].
PCR amplification of exons 7,10, 13, 15 and 19 of FGFR3 was performed.
She was admitted to the neonatal ward for investigation of a suspected dysmorphic syndrome and initial FGFR3 molecular genetic testing for achondroplasia revealed no mutations.
The poor prognosis of patients with t(4; 14) may be in part due to its association with upregulation of the fibroblast growth factor receptor 3 (FGFR3).
(iii) In Figure 1, "Pgfr" should be corrected to "Fgfr3," and "Chrdl" should be corrected to "Chrdl1." The corrected figure is shown below.
When SCs robustly proliferate, the expression level of Fgf20 and Fgfr3 decreases [67].
This translocation results in increased expression of fibroblast growth factor receptor 3 (FGFR3) and multiple myeloma SET (MMSET) domain [11, 12].
Zeng et al., "mTORC1 activation downregulates FGFR3 and PTH/PTHrP receptor in articular chondrocytes to initiate osteoarthritis," Osteoarthritis and Cartilage, vol.
(9,16) El sindrome de Crouzon esta relacionado especificamente con el gen FGFR2 en el cromosoma 10q26; algunos pacientes pueden presentar manifestaciones dermatologicas de acantosis nigricans (AN) vinculando al gen FGFR3. (8,9,13,15,16)