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Entries
Signaling by FGFR in disease
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authored
[InstanceEdit:2105031] Rothfels, K, 2012-02-09
created
[InstanceEdit:1226104] Rothfels, K, 2011-03-08
dbId
1226099
disease
[Disease:2032940] bone development disease
[Disease:1500689] cancer
displayName
Signaling by FGFR in disease
doi
10.3180/R-HSA-1226099.3
edited
[InstanceEdit:2248846] Rothfels, K, 2012-05-15
eventOf
[Pathway:R-HSA-5663202] Diseases of signal transduction by growth factor receptors and second messengers - Homo sapiens
figure
[Figure:9729928] /figures/ehld/R-HSA-1226099.svg
hasDiagram
true
hasEHLD
true
hasEvent
[Pathway:R-HSA-5655302] Signaling by FGFR1 in disease - Homo sapiens
[Pathway:R-HSA-5655253] Signaling by FGFR2 in disease - Homo sapiens
[Pathway:R-HSA-5655332] Signaling by FGFR3 in disease - Homo sapiens
[Pathway:R-HSA-5655291] Signaling by FGFR4 in disease - Homo sapiens
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:2045061] FGFR activation in skeletal disorders: too much of a good thing
[LiteratureReference:2045065] Fibroblast growth factor receptors: lessons from the genes
[LiteratureReference:2046359] Syndromic craniosynostosis: from history to hydrogen bonds
[LiteratureReference:2046366] FGFR3-related dwarfism and cell signaling
[LiteratureReference:2032923] Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras
[LiteratureReference:2045066] Fibroblast growth factors and their receptors in cancer
[LiteratureReference:2045070] Ligand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domains
[LiteratureReference:2018765] Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I
[LiteratureReference:1637852] Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia
[LiteratureReference:2032929] Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
[LiteratureReference:2032916] A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
[LiteratureReference:2032927] Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype
[LiteratureReference:2029799] Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain
[LiteratureReference:2045069] Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
[LiteratureReference:1307938] Fibroblast growth factor signalling: from development to cancer
[LiteratureReference:1614274] Targeting mutant fibroblast growth factor receptors in cancer
[LiteratureReference:1226112] Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas
[LiteratureReference:1637853] Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders
[LiteratureReference:1982028] Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer
[LiteratureReference:2011995] FGFR1 amplification drives endocrine therapy resistance and is a therapeutic target in breast cancer
[LiteratureReference:2023821] FGFR2-amplified gastric cancer cell lines require FGFR2 and Erbb3 signaling for growth and survival
[LiteratureReference:2023811] AZD2171 shows potent antitumor activity against gastric cancer over-expressing fibroblast growth factor receptor 2/keratinocyte growth factor receptor
[LiteratureReference:2033248] Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3
[LiteratureReference:2033245] High incidence of translocations t(11;14)(q13;q32) and t(4;14)(p16;q32) in patients with plasma cell malignancies
[LiteratureReference:2032925] Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations
[LiteratureReference:1982006] 8p11 myeloproliferative syndrome: a review
modified
[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name
Signaling by FGFR in disease
releaseDate
2012-06-12
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:2248845] Ezzat, S, 2012-05-15
[InstanceEdit:8853855] Grose, Richard P, 2016-01-25
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-1226099
summation
[Summation:2045084] A number of skeletal and developmental diseases have been sh...
Referrals
(hasEvent)
[Pathway:R-HSA-5663202] Diseases of signal transduction by growth factor receptors and second messengers
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