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Mol Cells. 2019 Jun 30;42(6):441-447. doi: 10.14348/molcells.2019.0037.

Neurodevelopmental Aspects of RASopathies.

Author information

1
Division of Integrative Biosciences and Biotechnology.
2
Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang 37673, Korea.

Abstract

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.

KEYWORDS:

RAS; RASopathy; neurodevelopment

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