Fibroblast Growth Factor Receptor 3 (FGFR3) Signaling in Achondroplasia
نویسندگان
چکیده
منابع مشابه
Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia.
Mutations of fibroblast growth factor receptor 3 (FGFR3) are responsible for achondroplasia (ACH) and related dwarfing conditions in humans. The pathogenesis involves constitutive activation of FGFR3, which inhibits proliferation and differentiation of growth plate chondrocytes. Here we report that activating mutations in FGFR3 increase the stability of the receptor. Our results suggest that th...
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Achondroplasia and related chondrodysplasias are caused by heterozygous mutations of fibroblast growth factor receptor 3 (FGFR3). Virtually all patients with achondroplasia have the same mutation, and all of the FGFR3 mutations activate the FGFR3 signal transduction pathways. There is remarkable correlation between specific mutations and the severity of clinical phenotypes manifestations. The m...
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Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3). We used gene targeting to introduce the human achondroplasia mutation into the murine FGFR3 gene. Heterozygotes for this point mutation that carried the neo cassette were normal whereas neo+ homozyg...
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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. Cleavage of SNAP25 results in blockage of synaptic vesicle fusion and inhibition of the release of acetylcholine. The specific uptake of BoNT/A into pre-synaptic nerve terminals i...
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Fibroblast growth factor receptor 2 (FGFR2) is a membrane-spanning tyrosine kinase that mediates signaling for FGFs. Recent studies detected various point mutations of FGFR2 in multiple types of cancers, including breast cancer, lung cancer, gastric cancer, uterine cancer and ovarian cancer, yet the casual relationship between these mutations and tumorigenesis is unclear. Here we will discuss p...
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ژورنال
عنوان ژورنال: Journal of mucopolysaccharidosis and rare disease
سال: 2016
ISSN: 2465-8936
DOI: 10.19125/jmrd.2016.2.2.46