The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum.
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Clinical and biological characteristics of cervical neoplasias with FGFR3 mutation.Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implicationsStructural Mimicry of A-Loop Tyrosine Phosphorylation by a Pathogenic FGF Receptor 3 MutationSixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasiasNovel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasiaAnalysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilageThe localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor.Ligand activation leads to regulated intramembrane proteolysis of fibroblast growth factor receptor 3ProNodal acts via FGFR3 to govern duration of Shh expression in the prechordal mesodermThe N550K/H mutations in FGFR2 confer differential resistance to PD173074, dovitinib, and ponatinib ATP-competitive inhibitors.Differential regulation of FGFR3 by PTPN1 and PTPN2.Fibroblast growth factor receptor 3 interacts with and activates TGFβ-activated kinase 1 tyrosine phosphorylation and NFκB signaling in multiple myeloma and bladder cancer.Achondroplasia: Development, pathogenesis, and therapy.Precursor B cell receptor signaling activity can be uncoupled from surface expression.Cell adaptation to activated FGFR3 includes Sprouty4 up regulation to inhibit the receptor-mediated ERKs activation from the endoplasmic reticulum.Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner.Nordihydroguaiaretic acid inhibits an activated fibroblast growth factor receptor 3 mutant and blocks downstream signaling in multiple myeloma cellsHuman immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias.Fibroblast growth factor receptor-induced phosphorylation of STAT1 at the Golgi apparatus without translocation to the nucleus.The kinase activity of fibroblast growth factor receptor 3 with activation loop mutations affects receptor trafficking and signaling.ZDHHC3 Tyrosine Phosphorylation Regulates Neural Cell Adhesion Molecule Palmitoylation.The A391E mutation enhances FGFR3 activation in the absence of ligand.Stat1 controls postnatal bone formation by regulating fibroblast growth factor signaling in osteoblasts.Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer.Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.
P2860
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P2860
The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum.
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2003 nî lūn-bûn
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2003年の論文
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The thanatophoric dysplasia ty ...... rom the endoplasmic reticulum.
@ast
The thanatophoric dysplasia ty ...... rom the endoplasmic reticulum.
@en
The thanatophoric dysplasia ty ...... rom the endoplasmic reticulum.
@nl
type
label
The thanatophoric dysplasia ty ...... rom the endoplasmic reticulum.
@ast
The thanatophoric dysplasia ty ...... rom the endoplasmic reticulum.
@en
The thanatophoric dysplasia ty ...... rom the endoplasmic reticulum.
@nl
prefLabel
The thanatophoric dysplasia ty ...... rom the endoplasmic reticulum.
@ast
The thanatophoric dysplasia ty ...... rom the endoplasmic reticulum.
@en
The thanatophoric dysplasia ty ...... rom the endoplasmic reticulum.
@nl
P2860
P356
P1476
The thanatophoric dysplasia ty ...... rom the endoplasmic reticulum.
@en
P2093
Elio Liboi
Patricia M-J Lievens
P2860
P304
17344-17349
P356
10.1074/JBC.M212710200
P407
P577
2003-03-06T00:00:00Z