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Reaction
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Entries
Constitutive dimerization of FGFR3 cysteine mutants
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authored
[InstanceEdit:2105031] Rothfels, K, 2012-02-09
category
transition
compartment
[Compartment:876] plasma membrane
created
[InstanceEdit:2012083] Rothfels, K, 2011-11-22
dbId
2012084
disease
[Disease:2032940] bone development disease
[Disease:1500689] cancer
displayName
Constitutive dimerization of FGFR3 cysteine mutants
edited
[InstanceEdit:2252592] Rothfels, K, 2012-05-16
entityFunctionalStatus
[EntityFunctionalStatus:5654478] gain_of_function of FGFR3 cysteine mutants [plasma membrane]
eventOf
[Pathway:R-HSA-1839130] Signaling by activated point mutants of FGFR3 - Homo sapiens
followingEvent
[Reaction:R-HSA-2012082] Autocatalytic phosphorylation of FGFR3 cysteine mutants - Homo sapiens
input
2 ×
[DefinedSet:R-HSA-2012043] FGFR3 cysteine mutants [plasma membrane]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:2018765] Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I
[LiteratureReference:2060748] Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization
[LiteratureReference:2054054] Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
[LiteratureReference:2064376] Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
[LiteratureReference:2045073] Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
[LiteratureReference:2045061] FGFR activation in skeletal disorders: too much of a good thing
[LiteratureReference:2045065] Fibroblast growth factor receptors: lessons from the genes
[LiteratureReference:2045066] Fibroblast growth factors and their receptors in cancer
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Constitutive dimerization of FGFR3 cysteine mutants
output
[DefinedSet:R-HSA-2012041] FGFR3 cysteine mutant dimers [plasma membrane]
releaseDate
2012-06-12
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:2248845] Ezzat, S, 2012-05-15
schemaClass
Reaction
species
[Species:48887] Homo sapiens
stId
R-HSA-2012084
summation
[Summation:2018720] Activating mutations in FGFR3 that introduce a mutant cystei...
Referrals
(precedingEvent)
[Reaction:R-HSA-2012082] Autocatalytic phosphorylation of FGFR3 cysteine mutants
(hasEvent)
[Pathway:R-HSA-1839130] Signaling by activated point mutants of FGFR3
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