Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김영은 | - |
dc.date.accessioned | 2021-03-31T06:27:41Z | - |
dc.date.available | 2021-03-31T06:27:41Z | - |
dc.date.issued | 2020-01 | - |
dc.identifier.citation | NEUROBIOLOGY OF AGING, v. 85 | en_US |
dc.identifier.issn | 0197-4580 | - |
dc.identifier.issn | 1558-1497 | - |
dc.identifier.uri | https://www.sciencedirect.com/science/article/pii/S0197458019301447?via%3Dihub | - |
dc.identifier.uri | https://repository.hanyang.ac.kr/handle/20.500.11754/161108 | - |
dc.description.abstract | There is a genetic overlap among various neurodegenerative diseases that cause dementia. We analyzed dementia-related gene variants in 60 apolipoprotein E epsilon 4 non-carrying Korean patients with early-onset Alzheimer's disease. Thirty-one dementia-related genes were screened by exome sequencing. Among the 60 patients, three likely pathogenic variants (LPVs) and 1 variant of uncertain significance (VUS) were identified in PSEN1. In addition, two LPVs in TYROBP (c.141del) and PINK1 (c.1220G>A) and 17 VUS were found in other dementia-causing genes. Two variants in SORL1 and TREM2 were identified that were associated with Alzheimer's disease. In this study, we identified 5 (8.3%) LPVs and 18 (30%) VUSs in known dementia-related genes in apolipoprotein E epsilon 4 noncarrying Korean patients with early-onset Alzheimer's disease. (C) 2019 Elsevier Inc. All rights reserved. | en_US |
dc.description.sponsorship | This research was supported by National Research Foundation (NRF) of Korea grant funded by the Korea government (MSIP) (NRF-2018R1A1A3A04079255) and the Korean Health Technology R&D Project, Ministry of Health & Welfare, and Republic of Korea (HI18C0335, HI18C1629, HI14C2746) | en_US |
dc.language.iso | en | en_US |
dc.publisher | ELSEVIER SCIENCE INC | en_US |
dc.subject | Early-onset Alzheimer's disease | en_US |
dc.subject | APOE epsilon 4 non-carriers | en_US |
dc.subject | Exome sequencing | en_US |
dc.title | Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease. | en_US |
dc.type | Article | en_US |
dc.relation.volume | 85 | - |
dc.identifier.doi | 10.1016/j.neurobiolaging.2019.05.009 | - |
dc.relation.page | 5-8 | - |
dc.relation.journal | NEUROBIOLOGY OF AGING | - |
dc.contributor.googleauthor | Park, Jong Eun | - |
dc.contributor.googleauthor | Kim, Hee Jin | - |
dc.contributor.googleauthor | Kim, Young-Eun | - |
dc.contributor.googleauthor | Jang, Hyemin | - |
dc.contributor.googleauthor | Cho, Soo Hyun | - |
dc.contributor.googleauthor | Kim, Seung Joo | - |
dc.contributor.googleauthor | Na, Duk L. | - |
dc.contributor.googleauthor | Won, Hong-Hee | - |
dc.contributor.googleauthor | Ki, Chang-Seok | - |
dc.contributor.googleauthor | Seo, Sang Won | - |
dc.relation.code | 2020049865 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | young0eun | - |
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