FGFR2


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AcronymDefinition
FGFR2Fibroblast Growth Factor Receptor 2 (also seen as FGFR-2)
References in periodicals archive ?
Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line.
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.
El CPT presenta mutaciones patogenas bien caracterizadas, incluidas mutaciones en BRAF, RAS, EIF1AX, PPM1D y CHEK2 y translocaciones que afectan BRAF, PPARg, NTRK1, NTRK3, THADA y FGFR2 [1].
El gen FGFR2, localizado en el cromosoma 10, locus 10q26, codifica para un receptor transmembranal que posee una region extracelular compuesta de tres dominios similares a las inmunoglobulinas Igl, IglI e IglII, con un segmento transmembranal hidrofobico y un dominio citoplasmatico de tipo tirosin-quinasa (1).
Advanced paternal age has been associated with a higher risk for autism spectrum disorder and schizophrenia, as well as mutations in the FGFR2 and FGFR3 genes that result in skeletal dysplasias and craniosynostosis syndromes.
However, only FGFR1 and FGFR3 but not FGFR2 and FGFR4 proteins are detected in the fetal rat testes (10).
Los subtipos mas importantes, para FGFR1 es FGFR1a, 1b y 1c, para FGFR2, son 2b y 2c y FGFR3, 3b y 3c.
His analysis confirmed the accuracy, reproducibility and sensitivity of ddPCR in quantifying the amplified FGFR2 gene, even when there was 1,000-fold dilution with normal genome DNA.
The FGFR2 protein is induced in the mid-to-late G1 phase of the cell cycle by E2F1 (Tashiro et al.
Los genes para el FGF-2 y sus receptores (FGFR1, FGFR2 y FGFR3) tuvieron su maxima expresion en ratas a la edad de 31 dias (45) (tabla 2).
In addition, a later study demonstrated a correlation between FGFR2 protein expression and ectoderm competent for lens regeneration (Arresta et al.
The exact pathogenesis is not clear; however, genetic mosaicism for FGFR2 mutation has been found.