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 ?
Short hairpin RNA (shRNA) was constructed to specifically target FGFR1 by shRNA design tools (http:// rnaidesigner.thermofisher.com/rnaiexpress/).
Primers and FAM-MGB probes were designed using Primer3 (22) for ERBB2, MYC, NODAL modulator 2 (NOMO2), CCND1, and FGFR1 (see online Supplemental Table 3).
Partanen, "FGFR1 is required for the development of the auditory sensory epithelium," Neuron, vol.
Western blot indicated that EGFR, VEGFR, and FGFR1 in the UC model group were significantly lower than in normal controls.
MiR-15a suppresses FGF2 and VEGF expression, but miR-16 and miR-424 block VEGFR2 and FGFR1 receptor expression in endothelial cells [183, 184].
El diagnostico de los otros sindromes relacionados con FGFR (receptor del factor de crecimiento de fibroblastos) de craneosinostosis se basan en los hallazgos clinicos, y pruebas de genetica molecular de los genes FGFR1, FGFR2 y FGFR3 siendo utiles para establecer el diagnostico especifico en los casos dudosos.
Clinical assessment and mutation analysis of kallmann syndrome (KAL1) and fibroblast growth factor receptor 1 (FGFR1 or KAL2) in five families and 18 sporadic patients.
CHEN ET AL/NATURE BIOTECHNOLOGY 2010 Number of Mutated resistant Disease gene people Cystic fibrosis CFTR 3 (lung disease) Smith-Lemli-Opitz DHCR7 2 syndrome (developmental disorder) Familial IKBKAP 1 dysautonomia (neurological disease) Epidermolysis KRT14 1 bullosa simplex (skin condition) Pfeiffer syndrome FGFR1 1 (bone disorder) APECED AIRE 1 (autoimmune disease) Acampomelic SOX9 1 campomelic dysplasia (bone disorder) Atelosteogenesis SLC26A2 3 (bone disorder)
IRS4 acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin-like growth factor 1 receptor (IG[F.sub.1]R), insulin receptor, and fibroblast growth factor receptor 1 (FGFR1), and plays an important role in development, growth, reproduction, and metabolic homeostasis (Hinsby et al., 2004).
Dado que el LPH aislado, es una alteracion congenita compleja de origen multifactorial, en la mayoria de los casos, esta causado por la interaccion entre el medio ambiente y varios genes involucrados con la via de senalizacion FGF, incluyendo FGFR1, FGFR2, y FGFR 3, FGF2, FGF3, FGF4, FGF7, FGF8, FGF9, FGF10 y FGF18, NUDT6, FCTBR, y PAX38, entre otros que podrian estar relacionados con esta via de senalizacion.
Such efforts have already resulted in the identification of fusions for FGFR1, FGFR2, and FGFR3 (33,34) as well as for ROS1, (35,36) RET, (36) and NTRK1, (37) with clinical trials also having been initiated with corresponding inhibitors.
FGFR1 to FGFR4 are known to propagate the highest level of FGF signals in a wide range of tissues.