Cellular modeling of Noonan syndrome using human induced pluripotent stem cells = 인간유도만능줄기세포를 이용한 누난 증후군의 세포 모델링 연구

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Noonan syndrome (NS) is one of developmental disorders caused by heterozygous gain-of-function (GOF) mutations in PTPN11, SOS1, KRAS and RAF1. SHP2 encoded by PTPN11 is commonly associated with NS and result in hyperactivation of Ras-MAPK pathway. Although the hyperactivation of Ras-MAPK pathway is thought to induce low cognitive function in NS patients, cellular mechanisms underlying abnormal development of brain remain elusive. Here, I demonstrate that elevated Ras-MAPK pathway by SHP2 mutation may contribute to abnormal neural differentiation in NS. Induced pluripotent stem cells derived from fibroblast of NS patient (NS-iPSCs) carried a point mutation (c.922 A
Advisors
Han, Yong-Mahnresearcher한용만researcher
Description
한국과학기술원 :생명과학과,
Publisher
한국과학기술원
Issue Date
2017
Identifier
325007
Language
eng
Description

학위논문(박사) - 한국과학기술원 : 생명과학과, 2017.2,[vi, 117 p. :]

Keywords

syndrome▼ainduced pluripotent stem cells▼aneural differentiation▼agliogenesis; 누난 증후군▼a유도만능 줄기세포▼a신경계 분화▼a신경아교세포형성

URI
http://hdl.handle.net/10203/264827
Link
http://library.kaist.ac.kr/search/detail/view.do?bibCtrlNo=866926&flag=dissertation
Appears in Collection
BS-Theses_Ph.D.(박사논문)
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