최소 단어 이상 선택하여야 합니다.
최대 10 단어까지만 선택 가능합니다.
다음과 같은 기능을 한번의 로그인으로 사용 할 수 있습니다.
NTIS 바로가기Dementia and neurocognitive disorders : offical journal of the Korean Dementia Association, v.17 no.4, 2018년, pp.131 - 136
Kim, Jong Hun (Department of Neurology, National Health Insurance Service Ilsan Hospital, Goyang, Korea .)
Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are APP, PSEN1, PSEN2, ABCA7, and SORL1. Genome-wide association studies have found risk genes such as ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, ...
1 Klein RJ Zeiss C Chew EY Tsai JY Sackler RS Haynes C Complement factor H polymorphism in age-related macular degeneration Science 2005 308 385 389 15761122
2 Lambert JC Ibrahim-Verbaas CA Harold D Naj AC Sims R Bellenguez C Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease Nat Genet 2013 45 1452 1458 24162737
3 Jonsson T Stefansson H Steinberg S Jonsdottir I Jonsson PV Snaedal J Variant of TREM2 associated with the risk of Alzheimer's disease N Engl J Med 2013 368 107 116 23150908
4 Jonsson T Atwal JK Steinberg S Snaedal J Jonsson PV Bjornsson S A mutation in APP protects against Alzheimer's disease and age-related cognitive decline Nature 2012 488 96 99 22801501
5 Dickson SP Wang K Krantz I Hakonarson H Goldstein DB Rare variants create synthetic genome-wide associations PLoS Biol 2010 8 e1000294 20126254
6 Steinberg S Stefansson H Jonsson T Johannsdottir H Ingason A Helgason H Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease Nat Genet 2015 47 445 447 25807283
7 Nicolas G Wallon D Charbonnier C Quenez O Rousseau S Richard AC Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons Eur J Hum Genet 2016 24 710 716 26242991
8 Cuyvers E De Roeck A Van den Bossche T Van Cauwenberghe C Bettens K Vermeulen S Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study Lancet Neurol 2015 14 814 822 26141617
9 Pottier C Hannequin D Coutant S Rovelet-Lecrux A Wallon D Rousseau S High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease Mol Psychiatry 2012 17 875 879 22472873
10 Slattery CF Beck JA Harper L Adamson G Abdi Z Uphill J R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementi Alzheimers Dement 2014 10 602 608.e4 25160042
11 Sullivan PF Daly MJ O'Donovan M Genetic architectures of psychiatric disorders: the emerging picture and its implications Nat Rev Genet 2012 13 537 551 22777127
12 International Schizophrenia Consortium Purcell SM Wray NR Stone JL Visscher PM O'Donovan MC Common polygenic variation contributes to risk of schizophrenia and bipolar disorder Nature 2009 460 748 752 19571811
13 Boyle EA Li YI Pritchard JK An expanded view of complex traits: from polygenic to omnigenic Cell 2017 169 1177 1186 28622505
14 Escott-Price V Sims R Bannister C Harold D Vronskaya M Majounie E Common polygenic variation enhances risk prediction for Alzheimer's disease Brain 2015 138 3673 3684 26490334
15 Shalem O Sanjana NE Zhang F High-throughput functional genomics using CRISPR-Cas9 Nat Rev Genet 2015 16 299 311 25854182
16 Ma H Marti-Gutierrez N Park SW Wu J Lee Y Suzuki K Correction of a pathogenic gene mutation in human embryos Nature 2017 548 413 419 28783728
17 Lasken RS McLean JS Recent advances in genomic DNA sequencing of microbial species from single cells Nat Rev Genet 2014 15 577 584 25091868
18 Rozenblatt-Rosen O Stubbington MJ Regev A Teichmann SA The human cell atlas: from vision to reality Nature 2017 550 451 453 29072289
19 Shi Y Yamada K Liddelow SA Smith ST Zhao L Luo W ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy Nature 2017 549 523 527 28959956
20 Ulland TK Song WM Huang SC Ulrich JD Sergushichev A Beatty WL TREM2 maintains microglial metabolic fitness in Alzheimer's disease Cell 2017 170 649 663.e13 28802038
21 Huang YA Zhou B Wernig M Südhof TC ApoE2, ApoE3, and ApoE4 differentially stimulate APP transcription and Aβ secretion Cell 2017 168 427 441.e21 28111074
22 Wang Y Cella M Mallinson K Ulrich JD Young KL Robinette ML TREM2 lipid sensing sustains the microglial response in an Alzheimer's disease model Cell 2015 160 1061 1071 25728668
*원문 PDF 파일 및 링크정보가 존재하지 않을 경우 KISTI DDS 시스템에서 제공하는 원문복사서비스를 사용할 수 있습니다.
오픈액세스 학술지에 출판된 논문
※ AI-Helper는 부적절한 답변을 할 수 있습니다.