{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T21:44:28Z","timestamp":1781041468480,"version":"3.54.1"},"reference-count":33,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2017,1,19]],"date-time":"2017-01-19T00:00:00Z","timestamp":1484784000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer\u2019s Disease"],"published-print":{"date-parts":[[2017,2,20]]},"abstract":"<jats:p>\n                    We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer\u2019s disease (EOAD) genes (\n                    <jats:italic>APP, PSEN1<\/jats:italic>\n                    , and\n                    <jats:italic>PSEN2)<\/jats:italic>\n                    in this understudied population. Whole-exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among controls. These variants were analyzed in an independent cohort of 300 African American subjects in which\n                    <jats:italic>PSEN2<\/jats:italic>\n                    :NM_000447:exon5:c.T331C:p.Phe111Leu and\n                    <jats:italic>PSEN1-minilin<\/jats:italic>\n                    rs777923890 variants were again not observed, indicating that these novel rare variants, may contribute to AD risk in this population.\n                  <\/jats:p>","DOI":"10.3233\/jad-161185","type":"journal-article","created":{"date-parts":[[2017,1,20]],"date-time":"2017-01-20T10:23:53Z","timestamp":1484907833000},"page":"1215-1222","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer\u2019s Disease Genes in African Americans Identifies Novel\n                    <i>PSEN<\/i>\n                    Variants"],"prefix":"10.1177","volume":"56","author":[{"given":"Aurelie","family":"N\u2019Songo","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minerva M.","family":"Carrasquillo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Health Science Research, Mayo Clinic, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thuy","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Asmann","sequence":"additional","affiliation":[{"name":"Department of Health Science Research, Mayo Clinic, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven G.","family":"Younkin","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariet","family":"Allen","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranjan","family":"Duara","sequence":"additional","affiliation":[{"name":"Wien Center for Alzheimer\u2019s Disease and Memory Disorders, Mount Sinai Medical Center, Miami Beach, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria T. 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