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The impact of RASopathy-associated mutations on CNS development in mice and humans

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dc.contributor.authorKang, Minkyung-
dc.contributor.authorLee, Yong-Seok-
dc.date.accessioned2020-03-23T01:43:13Z-
dc.date.available2020-03-23T10:45:13Z-
dc.date.issued2019-11-21-
dc.identifier.citationMolecular Brain, 12(1):96ko_KR
dc.identifier.issn1756-6606-
dc.identifier.uri10.1186/s13041-019-0517-5-
dc.identifier.urihttps://hdl.handle.net/10371/164751-
dc.description.abstractThe RAS signaling pathway is involved in the regulation of developmental processes, including cell growth, proliferation, and differentiation, in the central nervous system (CNS). Germline mutations in the RAS signaling pathway genes are associated with a group of neurodevelopmental disorders, collectively called RASopathy, which includes neurofibromatosis type 1, Noonan syndrome, cardio-facio-cutaneous syndrome, and Costello syndrome. Most mutations associated with RASopathies increase the activity of the RAS-ERK signaling pathway, and therefore, most individuals with RASopathies share common phenotypes, such as a short stature, heart defects, facial abnormalities, and cognitive impairments, which are often accompanied by abnormal CNS development. Recent studies using mouse models of RASopathies demonstrated that particular mutations associated with each disorder disrupt CNS development in a mutation-specific manner. Here, we reviewed the recent literatures that investigated the developmental role of RASopathy-associated mutations using mutant mice, which provided insights into the specific contribution of RAS-ERK signaling molecules to CNS development and the subsequent impact on cognitive function in adult mice.ko_KR
dc.language.isoenko_KR
dc.publisherBMCko_KR
dc.subjectRAS-
dc.subjectMAPK-
dc.subjectneurodevelopmental disorders-
dc.subjectcognition-
dc.subjectmutant strains mouse-
dc.titleThe impact of RASopathy-associated mutations on CNS development in mice and humansko_KR
dc.typeArticleko_KR
dc.contributor.AlternativeAuthor강민경-
dc.contributor.AlternativeAuthor이용석-
dc.citation.journaltitleMolecular Brainko_KR
dc.language.rfc3066en-
dc.rights.holderThe Author(s).-
dc.date.updated2019-11-24T04:19:29Z-
dc.citation.number1ko_KR
dc.citation.startpage96ko_KR
dc.citation.volume12ko_KR
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Dept. of Physiology (생리학교실)Journal Papers (저널논문_생리학교실)
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