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 ?
An overview of FGFR3 signaling with its predicted miRNA regulators is shown in Fig.
By combining p53 with our current FGFR3 assay, we can provide excellent detection for both pathways, covering all stages and grades of bladder cancer," said Anthony P.
PIK3CA and FGFR3 mutations generally co-occur, suggesting a potential synergistic additive oncogenic effect for PIK3CA mutations.
Such studies have also led to the classification of novel syndromes diagnosed at the molecular level, such as Muenke syndrome, which is related to the FGFR3 P250R mutation (3,4).
The article entitled "Urothelial carcinoma of the upper urinary tract diagnosed via FGFR3 mutation detection in urine: a case report" can be accessed online at BMC Urology.
The superficial URCa pathogenesis pathway is primarily based on alterations in the tyrosine kinase receptor FGFR3 and the HRAS oncogene.
As part of their evaluation, patients underwent cystoscopy and urine samples were analyzed using a combination of DNA (including FGFR3 mutational analysis) and protein (matrix metalloproteinase-2) biomarkers.
DUK60302 carries a point mutation (749G>C) in the FGFR3 gene that leads to Meunke syndrome (36), a nonsyndromic craniosynostosis.
The Company recently launched a sequencing-based version of its CertNDx Bladder Cancer Assay which uses a NGS sequencing platform to detect FGFR3 mutations that are indicative of bladder cancer.
We screened 13 cell lines from the NIGMS Repository for medically important mutations in 11 different genes: CFTR, F5, F2, MTHFR, HFE, GJB2 (connexin 26), FMR1 (fragile X), HBA1/HBA2 ([alpha]-thalassemia), FGFR3, HD, and HbS/HbC.
The company has developed a new, highly sensitive non-invasive urine-based assay that uses NGS to analyze FGFR3 mutations for bladder cancer detection, which demonstrated a significant improvement in sensitivity over the qPCR method currently used in Predictive's CertNDx Bladder Cancer Assays.
Targeting overexpressing wild-type, mutant, or fusion forms of FGFR3 with B-701 opens other possibilities for bladder cancer patients," said Dr.