Achondroplasia is the most common form of short‐limb dwarfism. In this disorder, endochondral ossification is impaired due to gain‐of‐function mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene.
Guylene Rignol+12 more
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Cysteine-rich Fibroblast Growth Factor Receptor Alters Secretion and Intracellular Routing of Fibroblast Growth Factor 3 [PDF]
Expression of the cysteine-rich fibroblast growth factor (FGF) receptor (CFR) in COS-1 cells strongly inhibits the secretion of co-expressed FGF3. By using a column retention assay and affinity chromatography, we demonstrate that at physiological salt concentrations FGF3 binds with strong affinity to CFR in vivo and in vitro.
Roman Köhl+4 more
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Introduction Advances in the treatment of biliary tract cancer have been made possible through gains in genomic and epigenetic tumor understanding. The use of fibroblast growth factor receptor inhibitor has enabled significant clinical improvement in a ...
Andreas Edwin Juarso+2 more
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VEGFR1-tyrosine kinase signaling in pulmonary fibrosis
Vascular endothelial growth factor (VEGF) is not only an important factor for angiogenesis but also lung development and homeostasis. VEGF-A binds three tyrosine kinase (TK) receptors VEGFR1–3.
Hideki Amano+4 more
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Fibroblast Growth Factor Receptor 3 (FGF-R3): A Promising Therapeutic Target for the Treatment of Bladder Cancer. [PDF]
Abdel-Magid AF.
europepmc +2 more sources
Identification of fibroblast growth factor receptor 3 (FGFR3) as a protein receptor for botulinum neurotoxin serotype A (BoNT/A). [PDF]
Botulinum neurotoxin serotype A (BoNT/A) causes transient muscle paralysis by entering motor nerve terminals (MNTs) where it cleaves the SNARE protein Synaptosomal-associated protein 25 (SNAP25206) to yield SNAP25197.
Birgitte P S Jacky+12 more
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Positive fibroblast growth factor receptor 3 immunoreactivity is associated with low-grade non-invasive urothelial bladder cancer. [PDF]
Poyet C+11 more
europepmc +3 more sources
Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report
Background Hypochondroplasia (HCH) is a common nonlethal skeletal dysplasia caused by pathogenic variations in the fibroblast growth factor receptor 3 (FGFR3) gene, and HCH has similar clinical manifestations with achondroplasia (ACH), which can be ...
Hua Xie+4 more
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Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia
Achondroplasia (ACH) is a rare autosomal-dominant genetic disease resulting from a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene. It is characterized by asymmetric short stature.
LIU Fuze, WANG Hai
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Frequency of fibroblast growth factor receptor 3 mutations in sporadic tumours [PDF]
Mutations in FGFR3 have been identified in several tumour types including bladder carcinoma, cervical carcinoma, and multiple myeloma. In bladder carcinoma, we recently identified FGFR3 mutations in 41% of tumours, making this the most frequently mutated putative oncogene identified in bladder cancer to date.
Peter L Stern+2 more
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