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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 441 - 447 (7page)
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초록· 키워드
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RAS gene mutations are frequently found in one third of human cancers. Affecting approximately 1 in 1,000 newborns, germline and somatic gain-of-function mutations in the components of RAS/mitogen-activated protein kinase (RAS/MAPK) pathway has been shown to cause developmental disorders, known as RASopathies. Since RAS-MAPK pathway plays essential roles in proliferation, differentiation and migration involving developmental processes, individuals with RASopathies show abnormalities in various organ systems including central nervous system. The frequently seen neurological defects are developmental delay, macrocephaly, seizures, neurocognitive deficits, and structural malformations. Some of the defects stemmed from dysregulation of molecular and cellular processes affecting early neurodevelopmental processes. In this review, we will discuss the implications of RAS-MAPK pathway components in neurodevelopmental processes and pathogenesis of RASopathies.
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참고문헌 (81)
참고문헌 신청
Aoki, K. / 2005 / Local phosphatidylinositol 3, 4, 5-trisphosphate accumulation recruits Vav2 and Vav3 to activate Rac1/Cdc42 and initiate neurite outgrowth in nerve growth factor-stimulated PC12 cells / Mol. Biol. Cell 16:2207~2217
Aoki, Y. / 2005 / Germline mutations in HRAS proto-oncogene cause Costello syndrome / Nat. Genet 37:1038~1040
Arendt, T. / 2004 / Neuronal activation of Ras regulates synaptic connectivity / Eur. J. Neurosci 19:2953~2966
Bajenaru, M. L. / 2001 / Neurofibromatosis 1(NF1)heterozygosity results in a cell-autonomous growth advantage for astrocytes / Glia 33:314~323
Bajenaru, M. L. / 2002 / Astrocyte-specific inactivation of the neurofibromatosis 1 gene(NF1)is insufficient for astrocytoma formation / Mol. Cell. Biol 22:5100~5113
Aoki, Y. / 2005 / Germline mutations in HRAS proto-oncogene cause Costello syndrome / Nat. Genet 37:1038~1040
Arendt, T. / 2004 / Neuronal activation of Ras regulates synaptic connectivity / Eur. J. Neurosci 19:2953~2966
Bajenaru, M. L. / 2001 / Neurofibromatosis 1(NF1)heterozygosity results in a cell-autonomous growth advantage for astrocytes / Glia 33:314~323
Bajenaru, M. L. / 2002 / Astrocyte-specific inactivation of the neurofibromatosis 1 gene(NF1)is insufficient for astrocytoma formation / Mol. Cell. Biol 22:5100~5113
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