{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T17:05:16Z","timestamp":1764781516964},"reference-count":21,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2002,6,1]],"date-time":"2002-06-01T00:00:00Z","timestamp":1022889600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4066,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2002,6]]},"DOI":"10.1086\/340732","type":"journal-article","created":{"date-parts":[[2002,9,30]],"date-time":"2002-09-30T17:28:29Z","timestamp":1033406909000},"page":"1568-1574","source":"Crossref","is-referenced-by-count":37,"title":["The Gene Encoding Nicastrin, a Major \u03b3-Secretase Component, Modifies Risk for Familial Early-Onset Alzheimer Disease in a Dutch Population-Based Sample"],"prefix":"10.1016","volume":"70","author":[{"given":"Bart","family":"Dermaut","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessie","family":"Theuns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristel","family":"Sleegers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marleen","family":"Van den Broeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krist'l","family":"Vennekens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen","family":"Corsmit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"St. George-Hyslop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Cruts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelia M.","family":"van Duijn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Van Broeckhoven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/340732_bib5","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1101\/gr.10.8.1249","article-title":"Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing","volume":"10","author":"Alderborn","year":"2000","journal-title":"Genome Res"},{"key":"10.1086\/340732_bib6","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1038\/35087069","article-title":"Nicastrin binds to membrane-tethered Notch","volume":"3","author":"Chen","year":"2001","journal-title":"Nat Cell Biol"},{"key":"10.1086\/340732_bib7","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/nm0197-67","article-title":"Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice","volume":"3","author":"Citron","year":"1997","journal-title":"Nat Med"},{"key":"10.1086\/340732_bib8","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1093\/hmg\/7.1.43","article-title":"Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population based study of presenile Alzheimer disease","volume":"7","author":"Cruts","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/340732_bib9","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1007\/s004150170044","article-title":"Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's Disease","volume":"248","author":"Dermaut","year":"2001","journal-title":"J Neurol"},{"key":"10.1086\/340732_bib10","first-page":"921","article-title":"Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population","volume":"12","author":"Excoffier","year":"1995","journal-title":"Mol Biol Evol"},{"key":"10.1086\/340732_bib11","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1212\/WNL.57.9.1663","article-title":"Genome-wide linkage disequilibrium mapping of late-onset Alzheimer's disease in Finland","volume":"57","author":"Hiltunen","year":"2001","journal-title":"Neurology"},{"key":"10.1086\/340732_bib12","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1007\/BF00145007","article-title":"Determinants of disease and disability in the elderly: the Rotterdam Elderly Study","volume":"7","author":"Hofman","year":"1991","journal-title":"Eur J Epidemiol"},{"key":"10.1086\/340732_bib13","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/hmg\/8.2.237","article-title":"A full genome scan for late onset Alzheimer's disease","volume":"8","author":"Kehoe","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/340732_bib14","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmg.38.6.353","article-title":"The \u221248 C\/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased A\u03b2 load in brain","volume":"38","author":"Lambert","year":"2001","journal-title":"J Med Genet"},{"key":"10.1086\/340732_bib15","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1212\/WNL.34.7.939","article-title":"Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease","volume":"34","author":"McKhann","year":"1984","journal-title":"Neurology"},{"key":"10.1086\/340732_bib16","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1136\/bmj.310.6985.970","article-title":"Prevalence of Alzheimer's disease and vascular dementia: association with education. The Rotterdam study","volume":"310","author":"Ott","year":"1995","journal-title":"BMJ"},{"key":"10.1086\/340732_bib17","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1111\/j.1469-1809.1995.tb01608.x","article-title":"Monte Carlo tests for associations between disease and alleles at highly polymorphic loci","volume":"59","author":"Sham","year":"1995","journal-title":"Ann Hum Genet"},{"key":"10.1086\/340732_bib18","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1038\/375754a0","article-title":"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease","volume":"375","author":"Sherrington","year":"1995","journal-title":"Nature"},{"key":"10.1086\/340732_bib19","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1093\/hmg\/9.3.325","article-title":"Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression","volume":"9","author":"Theuns","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/340732_bib20","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1007\/s004390100508","article-title":"The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease","volume":"108","author":"Theuns","year":"2001","journal-title":"Hum Genet"},{"key":"10.1086\/340732_bib21","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/sj.ejhg.5200373","article-title":"Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample","volume":"7","author":"van Duijn","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/340732_bib22","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/ng0594-74","article-title":"Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease","volume":"7","author":"van Duijn","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/340732_bib23","first-page":"714","article-title":"A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21","volume":"55","author":"van Duijn","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/340732_bib24","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/19077","article-title":"Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity","volume":"398","author":"Wolfe","year":"1999","journal-title":"Nature"},{"key":"10.1086\/340732_bib25","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":"Yu","year":"2000","journal-title":"Nature"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707607095?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707607095?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,9]],"date-time":"2019-04-09T03:23:18Z","timestamp":1554780198000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707607095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2002,6]]}},"alternative-id":["S0002929707607095"],"URL":"https:\/\/doi.org\/10.1086\/340732","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,6]]}}}