Signaling by MAP2K mutants

Stable Identifier
R-HSA-9652169
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Signaling by MAP2K mutants
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Activating mutations in MAP2K1 and MAP2K2, the genes encoding MEK1 and MEK2, have been identified at low frequency in a variety of cancers as well as in germline diseases such as Noonan syndrome, cardiofaciocutaneous syndromes and other RASopathies (reviewed in Samatar and Poulikakos, 2014; Bezniakow et al, 2014; Rauen, 2013).
Literature References
PubMed ID Title Journal Year
25182392 The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes

Obersztyn, E, Bezniakow, N, Gos, M

Dev Period Med 2014
25435214 Targeting RAS-ERK signalling in cancer: promises and challenges

Poulikakos, PI, Samatar, AA

Nat Rev Drug Discov 2014
23875798 The RASopathies

Rauen, KA

Annu Rev Genomics Hum Genet 2013
Participants
Events
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as an event of
Disease
Name Identifier Synonyms
cardiofaciocutaneous syndrome DOID:0060233 CFC syndrome, cardio-facial-cutaneous syndrome
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Cross References
BioModels Database
Authored
Rothfels, K  (2019-10-25)
Reviewed
Gavathiotis, E  (2020-05-04)
Created
Rothfels, K  (2019-06-27)
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