Gene panels and primers for next generation sequencing studies on neurodegenerative disorders
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Giau, Vo Van | - |
dc.contributor.author | An, Seong Soo A. | - |
dc.contributor.author | Bagyinszky, Eva | - |
dc.contributor.author | Kim, SangYun | - |
dc.date.available | 2020-02-28T09:41:33Z | - |
dc.date.created | 2020-02-06 | - |
dc.date.issued | 2015-06 | - |
dc.identifier.issn | 1738-642X | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/10436 | - |
dc.description.abstract | Several types of neurodegenerative diseases were described, including Alzheimer's disease (AD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), prion disease, and Parkinson's disease (PD). Since the potential treatment strategies of these disorders might be more successful in the pre-clinical stages than in the actual clinical setup, new diagnostic methods were needed. The involvement of heredity in neurodegenerative disorders was established, but several neurodegenerative disorders such as AD, PD, ALS, FTD and Huntington's disease (HD) are highly complex. Sanger sequencing was used to detect mutations that are causative or risk factors for diseases. The problem with standard sequencing is its high cost and low speed. Recently, next generation sequencing (NGS) strategies were developed, which could provide a more complex genetic analysis of patients with neurodegenerative diseases. In this study, 50 genes were selected, which were established as causative genes for neurodegenerative diseases, but we also included several risk factor genes and candidate genes. Primers (maximum 400-bp length) were designed to screen for mutations and variants in them. We plan to use these primers for NGS screening to create a more detailed genetic profile for these patients. This study could enhance disease diagnosis and would be also helpful in estimating the risk for disease onset in the future. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | KOREAN SOCIETY TOXICOGENOMICS & TOXICOPROTEOMICS-KSTT | - |
dc.relation.isPartOf | MOLECULAR & CELLULAR TOXICOLOGY | - |
dc.subject | AMYOTROPHIC-LATERAL-SCLEROSIS | - |
dc.subject | ONSET ALZHEIMERS-DISEASE | - |
dc.subject | HEREDITARY SPASTIC PARAPLEGIA | - |
dc.subject | AMINO-ACID OXIDASE | - |
dc.subject | FRONTOTEMPORAL DEMENTIA | - |
dc.subject | PARKINSONS-DISEASE | - |
dc.subject | MUTATIONAL SPECTRUM | - |
dc.subject | SQSTM1 MUTATIONS | - |
dc.subject | ALPHA-SYNUCLEIN | - |
dc.subject | PROTEIN GENE | - |
dc.title | Gene panels and primers for next generation sequencing studies on neurodegenerative disorders | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000357092200001 | - |
dc.identifier.doi | 10.1007/s13273-015-0011-9 | - |
dc.identifier.bibliographicCitation | MOLECULAR & CELLULAR TOXICOLOGY, v.11, no.2, pp.89 - 143 | - |
dc.identifier.kciid | ART002262235 | - |
dc.identifier.scopusid | 2-s2.0-84933498386 | - |
dc.citation.endPage | 143 | - |
dc.citation.startPage | 89 | - |
dc.citation.title | MOLECULAR & CELLULAR TOXICOLOGY | - |
dc.citation.volume | 11 | - |
dc.citation.number | 2 | - |
dc.contributor.affiliatedAuthor | Giau, Vo Van | - |
dc.contributor.affiliatedAuthor | An, Seong Soo A. | - |
dc.contributor.affiliatedAuthor | Bagyinszky, Eva | - |
dc.contributor.affiliatedAuthor | Kim, SangYun | - |
dc.type.docType | Review | - |
dc.subject.keywordAuthor | Dementia | - |
dc.subject.keywordAuthor | NGS | - |
dc.subject.keywordAuthor | Gene panel | - |
dc.subject.keywordAuthor | Mutation | - |
dc.subject.keywordPlus | AMYOTROPHIC-LATERAL-SCLEROSIS | - |
dc.subject.keywordPlus | ONSET ALZHEIMERS-DISEASE | - |
dc.subject.keywordPlus | HEREDITARY SPASTIC PARAPLEGIA | - |
dc.subject.keywordPlus | AMINO-ACID OXIDASE | - |
dc.subject.keywordPlus | FRONTOTEMPORAL DEMENTIA | - |
dc.subject.keywordPlus | PARKINSONS-DISEASE | - |
dc.subject.keywordPlus | MUTATIONAL SPECTRUM | - |
dc.subject.keywordPlus | SQSTM1 MUTATIONS | - |
dc.subject.keywordPlus | ALPHA-SYNUCLEIN | - |
dc.subject.keywordPlus | PROTEIN GENE | - |
dc.relation.journalResearchArea | Biochemistry & Molecular Biology | - |
dc.relation.journalResearchArea | Toxicology | - |
dc.relation.journalWebOfScienceCategory | Biochemistry & Molecular Biology | - |
dc.relation.journalWebOfScienceCategory | Toxicology | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
1342, Seongnam-daero, Sujeong-gu, Seongnam-si, Gyeonggi-do, Republic of Korea(13120)031-750-5114
COPYRIGHT 2020 Gachon University All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.