{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T17:41:17Z","timestamp":1760204477628},"reference-count":37,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2011,2,25]],"date-time":"2011-02-25T00:00:00Z","timestamp":1298592000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0017298","type":"journal-article","created":{"date-parts":[[2011,2,25]],"date-time":"2011-02-25T22:21:08Z","timestamp":1298672468000},"page":"e17298","update-policy":"http:\/\/dx.doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":18,"title":["Deep Sequencing of the Nicastrin Gene in Pooled DNA, the Identification of Genetic Variants That Affect Risk of Alzheimer's Disease"],"prefix":"10.1371","volume":"6","author":[{"given":"Michelle K.","family":"Lupton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petroula","family":"Proitsi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makrina","family":"Danillidou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magda","family":"Tsolaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gillian","family":"Hamilton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Wroe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Pritchard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn","family":"Lord","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Belinda M.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iwona","family":"Kloszewska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilkka","family":"Soininen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Mecocci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Vellas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Harold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Hollingworth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Lovestone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John F.","family":"Powell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2011,2,25]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1038\/ng.440","article-title":"Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer&apos;s disease.","volume":"41","author":"D Harold","year":"2009","journal-title":"Nat Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1038\/ng.439","article-title":"Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer&apos;s disease.","volume":"41","author":"JC Lambert","year":"2009","journal-title":"Nat Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1038\/jhg.2010.46","article-title":"Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer.","volume":"55","author":"J Mitsui","year":"2010","journal-title":"J Hum Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1056\/NEJMoa0901281","article-title":"Multicenter analysis of glucocerebrosidase mutations in Parkinson&apos;s disease.","volume":"361","author":"E Sidransky","year":"2009","journal-title":"N Engl J Med"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1016\/j.neurobiolaging.2009.03.013","article-title":"Meta-analysis of linkage studies for Alzheimer&apos;s disease\u2013a web resource.","volume":"30","author":"AW Butler","year":"2009","journal-title":"Neurobiol Aging"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"132","DOI":"10.2174\/156720508783954695","article-title":"Assembly, maturation, and trafficking of the gamma-secretase complex in Alzheimer&apos;s disease.","volume":"5","author":"DR Dries","year":"2008","journal-title":"Curr Alzheimer Res"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1126\/science.7638622","article-title":"Candidate gene for the chromosome 1 familial Alzheimer&apos;s disease locus.","volume":"269","author":"E Levy-Lahad","year":"1995","journal-title":"Science"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1038\/376775a0","article-title":"Familial Alzheimer&apos;s disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer&apos;s disease type 3 gene.","volume":"376","author":"EI Rogaev","year":"1995","journal-title":"Nature"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1038\/35024009","article-title":"Nicastrin modulates presenilin-mediated notch\/glp-1 signal transduction and betaAPP processing.","volume":"407","author":"G Yu","year":"2000","journal-title":"Nature"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1086\/340732","article-title":"The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.","volume":"70","author":"B Dermaut","year":"2002","journal-title":"Am J Hum Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/S0304-3940(03)01105-4","article-title":"No replication of the association between the Nicastrin gene and familial early-onset Alzheimer&apos;s disease.","volume":"353","author":"E Cousin","year":"2003","journal-title":"Neurosci Lett"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1212\/01.WNL.0000133153.98139.4E","article-title":"Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population.","volume":"63","author":"S Helisalmi","year":"2004","journal-title":"Neurology"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.neulet.2004.09.073","article-title":"Nicastrin gene polymorphisms, cognitive ability level and cognitive ageing.","volume":"373","author":"IJ Deary","year":"2005","journal-title":"Neurosci Lett"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.neulet.2009.04.048","article-title":"Association between promoter polymorphisms of the nicastrin gene and sporadic Alzheimer&apos;s disease in North Chinese Han population.","volume":"458","author":"Z Ma","year":"2009","journal-title":"Neurosci Lett"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.neulet.2004.03.044","article-title":"Lack of association between Alzheimer&apos;s disease and the promoter region polymorphisms of the nicastrin gene.","volume":"363","author":"A Orlacchio","year":"2004","journal-title":"Neurosci Lett"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1111\/j.1460-9568.2009.06942.x","article-title":"Analysis of the nicastrin promoter rs10752637 polymorphism and its association with Alzheimer&apos;s disease.","volume":"30","author":"L Zhong","year":"2009","journal-title":"Eur J Neurosci"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.neulet.2003.09.007","article-title":"Nicastrin gene in familial and sporadic Alzheimer&apos;s disease.","volume":"353","author":"A Confaloni","year":"2003","journal-title":"Neurosci Lett"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1126\/science.1196284","article-title":"Gamma-secretase gene mutations in familial acne inversa.","volume":"330","author":"B Wang","year":"2010","journal-title":"Science"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/hmg\/10.6.591","article-title":"Prediction of deleterious human alleles.","volume":"10","author":"S Sunyaev","year":"2001","journal-title":"Hum Mol Genet"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/nmeth.1307","article-title":"Quantification of rare allelic variants from pooled genomic DNA.","volume":"6","author":"TE Druley","year":"2009","journal-title":"Nat Methods"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1126\/science.1167728","article-title":"Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.","volume":"324","author":"S Nejentsev","year":"2009","journal-title":"Science"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1002\/humu.21122","article-title":"Deep sequencing to reveal new variants in pooled DNA samples.","volume":"30","author":"AA Out","year":"2009","journal-title":"Hum Mutat"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1038\/nmeth.1251","article-title":"Identification of genetic variants using bar-coded multiplexed sequencing.","volume":"5","author":"DW Craig","year":"2008","journal-title":"Nat Methods"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"e122","DOI":"10.1093\/nar\/gkn502","article-title":"Multiplex sequencing of plant chloroplast genomes using Solexa sequencing-by-synthesis technology.","volume":"36","author":"R Cronn","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1101\/gr.092957.109","article-title":"DNA Sudoku\u2013harnessing high-throughput sequencing for multiplexed specimen analysis.","volume":"19","author":"Y Erlich","year":"2009","journal-title":"Genome Res"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1101\/gr.088559.108","article-title":"Overlapping pools for high-throughput targeted resequencing.","volume":"19","author":"S Prabhu","year":"2009","journal-title":"Genome Res"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/nmeth.1307","article-title":"Quantification of rare allelic variants from pooled genomic DNA.","volume":"6","author":"TE Druley","year":"2009","journal-title":"Nat Methods"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1002\/gepi.20502","article-title":"Resequencing of pooled DNA for detecting disease associations with rare variants.","volume":"34","author":"T Wang","year":"2010","journal-title":"Genet Epidemiol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"i318","DOI":"10.1093\/bioinformatics\/btq214","article-title":"A statistical method for the detection of variants from next-generation resequencing of DNA pools.","volume":"26","author":"V Bansal","year":"2010","journal-title":"Bioinformatics"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"2283","DOI":"10.1093\/bioinformatics\/btp373","article-title":"VarScan: variant detection in massively parallel sequencing of individual and pooled samples.","volume":"25","author":"DC Koboldt","year":"2009","journal-title":"Bioinformatics"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.cell.2005.05.022","article-title":"Nicastrin functions as a gamma-secretase-substrate receptor.","volume":"122","author":"S Shah","year":"2005","journal-title":"Cell"},{"key":"ref32","first-page":"189","article-title":"\u201cMini-mental state\u201d. A practical method for grading the cognitive state of patients for the clinician.","volume":"12","author":"MF Folstein","year":"1975","journal-title":"J Psychiatr Res"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1212\/WNL.34.7.939","article-title":"Clinical diagnosis of Alzheimer&apos;s disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer&apos;s Disease.","volume":"34","author":"G McKhann","year":"1984","journal-title":"Neurology"},{"key":"ref34","first-page":"36","article-title":"Image Processing with ImageJ.","volume":"11","author":"MD Abramoff","year":"2004","journal-title":"Biophotonics International"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1111\/j.1749-6632.2009.05064.x","article-title":"AddNeuroMed\u2013the European collaboration for the discovery of novel biomarkers for Alzheimer&apos;s disease.","volume":"1180","author":"S Lovestone","journal-title":"Ann N Y Acad Sci"},{"key":"ref36","article-title":"A Multiple Indicators Multiple Causes (MIMIC) model of Behavioural and Psychological Symptoms in Dementia (BPSD).","author":"P Proitsi","year":"2009","journal-title":"Neurobiol Aging"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1101\/gr.078212.108","article-title":"Mapping short DNA sequencing reads and calling variants using mapping quality scores.","volume":"18","author":"H Li","year":"2008","journal-title":"Genome Res"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0017298","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T19:15:22Z","timestamp":1588965322000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0017298"}},"subtitle":[],"editor":[{"given":"Roland","family":"Roberts","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2011,2,25]]},"references-count":37,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2011,2,25]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0017298","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,25]]}}}