FGFR1


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FGFR1

A gene on chromosome 8p12 that encodes fibroblast growth factor receptor-1, which has an extracellular region composed of 3 immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. Binding of a ligand unleashes a cascade of downstream signals that impact on mitogenesis and differentiation.

Molecular pathology
FGFR1 mutations are associated with inherited syndromes (e.g., Antley-Bixler syndrome, autosomal dominant Kallmann syndrome 2, Jackson-Weiss syndrome, osteoglophonic dysplasia and Pfeiffer syndrome), as well as myeloproliferative disorders and stem cell leukaemia lymphoma syndrome.
References in periodicals archive ?
Protein aliquots were separated on SDS-PAGE gels, transferred to PVDF membranes, blocked with 3% non-fat milk, and then incubated overnight with rabbit polyclonal antibodies against FGFR1 (sc-121, 1:400) and FGFR2 (sc-122, 1:600) (Santa Cruz Biotechnology, Santa Cruz, CA), respectively.
They estimate that 10% of women with breast cancer overexpress the FGFR1 gene.
Around 4,500 breast cancers diagnosed each year are thought to have too much of the FGFR1 gene.
The researchers believe this could ultimately help thousands of women each year, as they say one in 10 breast cancer patients has too much of the FGFR1 gene.
The preclinical research conducted by ARIAD scientists assessed the activity of ponatinib using cell lines expressing activated forms of FLT3, RET, KIT, PDGFR and FGFR1, each a kinase target associated with a specific tumor type.
In addition, the level of endogenous FGF21, [sz]-Klotho, and its receptor FGFR1 in VDN-induced VC rats was determined.
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.
We designed a 23-amplicon custom Ion AmpliSeq panel for analysis of the ESR1 gene (11% gene coverage, targeted to hot-spot regions), and selected hot-spot regions (based on COSMIC data) of the PIK3CA, TP53, FGFR1, and FGFR2 genes (see online Supplemental Table 1).
La eosinofilia es caracteristica pero no invariable y se ha establecido que en el caso de las neoplasias del PDGFRA o FGFR1 la celula de origen es una celula madre pluripotente (linfoide o mieloide) mutada, no esta claro si esto sucede con la neoplasia PDGFRB.
There is some evidence of downstream signaling differences between different FGFRs, such as the difference in activation levels of the MAPK pathway between FGFR1 and FGFR4 as determined using Xenopus animal cap assays (Umbhauer et al.
There is evidence to suggest that FGF23 acts through the formation of a heterotrimer with Klotho and the FGFR1 receptor (4).