FGFR3


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AcronymDefinition
FGFR3Fibroblast Growth Factor Receptor 3 (gene that can mutate, causing achondroplasia)
References in periodicals archive ?
These molecular subtypes showed different gene expressions: the Uro subtype expressed FGFR3 and cyclin D1 (CCND1), with the frequent loss of 9p21 (cyclin-dependent kinase inhibitor 2A [CDKN2A]); the genomically unstable subtype expressed Forkhead box Ml (FOXM1) but not CK5, with the loss of RB1; and the basal/SCCL subtype expressed CK5 and CK14, but not FOXA1 and GATA-binding protein 3 (GATA3).
Vofatamab is the most advanced targeted antibody specific for FGFR3 known by Rainier Therapeutics to be in clinical development.
The diagnosis of hypochondroplasia was made by clinical anthropometric evaluation (height, sitting height, upper/lower segment ratio etc.), presence of specific radiological findings (decreased interpedicular distance in the vertebrae, a short square iliac bone, extension in distal fibula) and demonstration of FGFR3 gene mutation when possible.
FGFR3 mutation causes abnormal membranous ossification in achondroplasia.
FGFR3, a highly conserved transmembrane tyrosine kinase receptor, overexpressed aberrantly in bladder [3], cervical [4], and colorectal cancer [5], suggesting that abnormal expression of FGFR3 was blamed to contribute partially to tumorigenesis.
Figure S2: expression of bFGF, FGFR1, FGFR2, FGFR3, and FGFR4 for feeder cells and cESCs, respectively, using RT-PCR.
Furthermore, liraglutide also upregulates the expression of FGFR3 and B-Klotho (necessary to the binding of FGF21 to its receptor) in AT, while in the liver upregulates FGFR1-3, B-klotho, and phospho-FGFR1 expression [185].
Bellmunt et al., "FGFR3 expression in primary and metastatic urothelial carcinoma of the bladder," Cancer Medicine, vol.
Chen et al., "High IGF2 and FGFR3 are associated with tumour progression in undifferentiated pleomorphic sarcomas, but EGFR and FGFR3 mutations are a rare event," Journal of Cancer Research and Clinical Oncology, vol.
Other mutations also identified are TP53, RB1, FGFR3, CCND1, MDM2, PTEN deletions, FGFR 1 amplifications, and aberrations of the chromatin remodeling genes [35].
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) and thanatophoric dysplasia.
Papiller tumorler RAF/MEK/ERK ve PIK3CA yolagindaki genlerin degisimi ile ilgilidir (ornegin; FGFR3).