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Our results extend the genetic mutation spectrum of FGFR3.
Study found FGFR3 gene mutation plus GRB10 (show GRB10 Proteins) gene duplication in a patient with achondroplasia plus growth delay with prenatal onset
Our family confirms the consistent and unique phenotype of this condition, and the specificity of the mutation in FGFR3.
no insertions or deletions in FGFR3 have been reported to cause thanatophoric dysplasia types 1 or 2; therefore, this represents the first report to describe such a mutation.
results suggest that FGFR3 kinase activity may regulate the papillomavirus reproductive program through phosphorylation of the E2 protein (show UBE2B Proteins) although this is unlikely to occur through the Y102 residue of HPV E2.
Our data also reinforce the notion that molecular testing of FGFR3 must be included in the diagnostic approach of coronal craniosynostosis. This will allow accurate genetic counseling and optimal management of MS, which might otherwise go undiagnosed because of mild manifestations and wide variability of expression
The frequent expression of members of the FGFR (show FGFR2 Proteins) family in cervical cancer suggests they may have prognostic and therapeutic relevance.
We describe the first case of protein-losing enteropathy in a pediatric patient, with severe skeletal dysplasia consistent with thanatophoric dysplasia type I and DNA analysis that revealed a c.1949A>T (p.Lys650Met) in exon 15 of the FGFR3 gene.
Liposarcoma patients harboring FGFR1 (show FGFR1 Proteins)/3 mutations experienced reduced overall survival.
High FGFR3 expression is associated with bladder cancer.
the localization of FGF9 and its receptors at different embryonic and postnatal stages in mice testes, was examined.
Bone anabolic effects of PTH (show PTH Proteins) were not impaired by the absence of FGFR3, suggesting that the FGFR3 signaling may not be required for osteoanabolic effects of PTH (show PTH Proteins) activities.
NVP-BGJ398 inhibited FGFR3 downstream signaling pathways, including MAPK (show MAPK1 Proteins), SOX9 (show SOX9 Proteins), STAT1 (show STAT1 Proteins), and PLCgamma, in the growth plates of Fgfr3Y367C/+ mice and in cultured chondrocyte models of Achondroplasia.
data suggest that FGF2 (show FGF2 Proteins) levels are critically related to anxiety behavior and hypothalamic pituitary- adrenal axis activity, likely through modulation of hippocampal glucocorticoid receptor (show NR3C1 Proteins) expression, an effect that is likely receptor mediated, albeit not by FGFR1 (show FGFR1 Proteins), FGFR2 (show FGFR2 Proteins), and FGFR3.
we show that low dose of NVP-BGJ398 improves in vivo condyle growth and corrects dysmorphologies in Fgfr3(Y367C/+) mice, suggesting that postnatal treatment with NVP-BGJ398 mice might offer a new therapeutic strategy to improve mandible anomalies in achondroplasia (ACH), and others FGFR3-related disorders.
Conditional Fgfr3 deletion in mice aggravated destabilization of medial meniscus (DMM (show COL2A1 Proteins))-induced cartilage degeneration. FGFR-3 activation attenuated cartilage degeneration induced by DMM (show COL2A1 Proteins) surgery and age.
Using a mouse model of Thanatophoric Dysplasia Type II (TDII) we show that both HDAC6 (show HDAC6 Proteins) deletion and treatment with the small molecule HDAC6 (show HDAC6 Proteins) inhibitor tubacin reduced FGFR3 accumulation in the growth plate and improved endochondral bone growth
This study reveals that chondrocyte FGFR3 is involved in the regulation of bone formation and bone remodeling by a paracrine mechanism.
Results show that Fgfr3-deficient mice exhibit progressive osteoarthritis-like defects in temporomandibular Joint (TMJ) changes, indicating that FGFR3 signaling is critically involved in the maintenance of the structure integrity and function of TMJ articular cartilage during adult stage.
loss of Fgfr3 function leads to the formation of chondroma-like lesions via downregulation of MEK (show MDK Proteins)/ERK (show EPHB2 Proteins) signaling and upregulation of IHH (show IHH Proteins).
The ectodomain of FGFR3 is proteolytically cleaved in response to ligand-induced receptor activation by FGF1, but unlike most regulated intramembrane proteolysis target proteins, it requires endocytosis and does not involve a metalloproteinase.
Alterations in the expression of VEGF-A (show VEGFA Proteins) and bFGF (show FGF2 Proteins) systems suggest that angiogenic factors are involved in abnormal placental development in cloned gestations, contributing to impaired fetal development and poor survival rates.
chondrodysplastic dwarfism in Japanese brown cattle is not caused by mutation in the FGFR3 gene
This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described.
fibroblast growth factor receptor 3
, fibroblast growth factor receptor 3 variant 4
, hydroxyaryl-protein kinase
, tyrosine kinase JTK4
, heparin-binding growth factor receptor
, fibroblast growth factor receptor 3-IIIc
, tyrosine kinase (cek2)
, tyrosine kinase receptor CEK2
, fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)