{"id":"https://openalex.org/W4390195604","doi":"https://doi.org/10.1002/alz.078884","title":"Uncovering the Role of an ABCA7 Frameshift Deletion in African American Alzheimer\u2019s Disease Cellular Pathology","display_name":"Uncovering the Role of an ABCA7 Frameshift Deletion in African American Alzheimer\u2019s Disease Cellular Pathology","publication_year":2023,"publication_date":"2023-12-01","ids":{"openalex":"https://openalex.org/W4390195604","doi":"https://doi.org/10.1002/alz.078884"},"language":"en","primary_location":{"id":"doi:10.1002/alz.078884","doi":"https://doi.org/10.1002/alz.078884","is_oa":true,"landing_page_url":"https://doi.org/10.1002/alz.078884","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.078884","source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's & Dementia","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.078884","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5059524075","display_name":"Brooke A. DeRosa","orcid":"https://orcid.org/0000-0002-7878-9799","observed_orcids":["https://orcid.org/0000-0002-7878-9799"]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Brooke A. DeRosa","raw_affiliation_strings":["John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104219646","display_name":"Younji Nam","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Younji Nam","raw_affiliation_strings":["John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075903136","display_name":"Charles G. Golightly","orcid":"https://orcid.org/0000-0001-6256-9153","observed_orcids":["https://orcid.org/0000-0001-6256-9153"]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles G. Golightly","raw_affiliation_strings":["John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061887634","display_name":"Shaina A. Simon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shaina A. Simon","raw_affiliation_strings":["John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015795110","display_name":"Jamie Arvizu","orcid":"https://orcid.org/0009-0004-8733-160X","observed_orcids":["https://orcid.org/0009-0004-8733-160X"]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jamie Arvizu","raw_affiliation_strings":["John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109439277","display_name":"Larry Deon Adams","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Larry D. Adams","raw_affiliation_strings":["John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061338695","display_name":"Takiyah D. Starks","orcid":"https://orcid.org/0000-0001-7267-3480","observed_orcids":["https://orcid.org/0000-0001-7267-3480"]},"institutions":[{"id":"https://openalex.org/I4405269449","display_name":"Wake Forest University Health Sciences","ror":"https://ror.org/046r1r105","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]},{"id":"https://openalex.org/I47251452","display_name":"Wake Forest University","ror":"https://ror.org/0207ad724","country_code":"US","type":"education","lineage":["https://openalex.org/I47251452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Takiyah D. Starks","raw_affiliation_strings":["Maya Angelou Center for Health Equity, Wake Forest School of Medicine, Winston-Salem, NC, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Maya Angelou Center for Health Equity, Wake Forest School of Medicine, Winston-Salem, NC, USA","institution_ids":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036968540","display_name":"Mayra Juliana Laverde-Paz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Juliana Laverde\u2010Paz","raw_affiliation_strings":["University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055461185","display_name":"Holly N. Cukier","orcid":"https://orcid.org/0000-0003-3459-7792","observed_orcids":["https://orcid.org/0000-0003-3459-7792"]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Holly N. Cukier","raw_affiliation_strings":["Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA","Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]},{"raw_affiliation_string":"Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]},{"raw_affiliation_string":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039717261","display_name":"Jeffery M. Vance","orcid":"https://orcid.org/0000-0003-3815-8199","observed_orcids":["https://orcid.org/0000-0003-3815-8199"]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeffery M. Vance","raw_affiliation_strings":["Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA","Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]},{"raw_affiliation_string":"Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]},{"raw_affiliation_string":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039221620","display_name":"Michael L. Cuccaro","orcid":"https://orcid.org/0000-0003-4769-0785","observed_orcids":["https://orcid.org/0000-0003-4769-0785"]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael L. Cuccaro","raw_affiliation_strings":["Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]},{"raw_affiliation_string":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020266650","display_name":"Jonathan L. Haines","orcid":"https://orcid.org/0000-0002-4351-4728","observed_orcids":["https://orcid.org/0000-0002-4351-4728"]},"institutions":[{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jonathan L. Haines","raw_affiliation_strings":["Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA","institution_ids":["https://openalex.org/I58956616"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032846688","display_name":"Goldie S. Byrd","orcid":"https://orcid.org/0000-0003-1057-0261","observed_orcids":["https://orcid.org/0000-0003-1057-0261"]},"institutions":[{"id":"https://openalex.org/I4405269449","display_name":"Wake Forest University Health Sciences","ror":"https://ror.org/046r1r105","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]},{"id":"https://openalex.org/I47251452","display_name":"Wake Forest University","ror":"https://ror.org/0207ad724","country_code":"US","type":"education","lineage":["https://openalex.org/I47251452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Goldie S. Byrd","raw_affiliation_strings":["Wake Forest University School of Medicine, Winston-Salem, NC, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wake Forest University School of Medicine, Winston-Salem, NC, USA","institution_ids":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020855307","display_name":"Gary W. Beecham","orcid":"https://orcid.org/0000-0002-7061-6332","observed_orcids":["https://orcid.org/0000-0002-7061-6332"]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gary W. Beecham","raw_affiliation_strings":["Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]},{"raw_affiliation_string":"University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069324665","display_name":"Margaret Ann Pericak\u2010Vance","orcid":"https://orcid.org/0000-0001-7283-8804","observed_orcids":["https://orcid.org/0000-0001-7283-8804","https://orcid.org/0000-0002-3309-1303"]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Margaret A. Pericak\u2010Vance","raw_affiliation_strings":["Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]},{"raw_affiliation_string":"University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023050141","display_name":"Derek Michael Dykxhoorn","orcid":"https://orcid.org/0000-0002-4998-9943","observed_orcids":["https://orcid.org/0000-0002-4998-9943"]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Derek M. Dykxhoorn","raw_affiliation_strings":["Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]},{"raw_affiliation_string":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA","institution_ids":["https://openalex.org/I145608581"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5059524075"],"corresponding_institution_ids":["https://openalex.org/I145608581"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.25252224,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"19","issue":"S13","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11266","display_name":"Neuroinflammation and Neurodegeneration Mechanisms","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/abca7","display_name":"ABCA7","score":0.8830000162124634},{"id":"https://openalex.org/keywords/alzheimer-s-disease","display_name":"Alzheimer's disease","score":0.9829999804496765}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7230141162872314},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.542752742767334},{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.5249911546707153},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.5197731852531433},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4683465361595154},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41071265935897827},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3568224012851715},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.12253114581108093}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1002/alz.078884","doi":"https://doi.org/10.1002/alz.078884","is_oa":true,"landing_page_url":"https://doi.org/10.1002/alz.078884","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.078884","source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's & Dementia","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1002/alz.078884","doi":"https://doi.org/10.1002/alz.078884","is_oa":true,"landing_page_url":"https://doi.org/10.1002/alz.078884","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.078884","source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's & Dementia","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4390195604.pdf","grobid_xml":"https://content.openalex.org/works/W4390195604.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3113149613","https://openalex.org/W2766760497","https://openalex.org/W2535747030","https://openalex.org/W4406050627","https://openalex.org/W2469809578","https://openalex.org/W4392142390","https://openalex.org/W2401203110","https://openalex.org/W7143428960","https://openalex.org/W7117140250","https://openalex.org/W3092201933"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"The":[2,213],"ATP":[3],"Binding":[4],"Cassette":[5],"Subfamily":[6],"A":[7],"Member":[8],"7":[9],"(ABCA7)":[10],"gene":[11],"is":[12,36,56,63,107,114,279,297],"a":[13,26,46,95,167,275,313,328],"risk":[14,34,336],"factor":[15],"for":[16,204,232],"Alzheimer\u2019s":[17],"disease":[18,335],"(AD).":[19],"While":[20],"ABCA7":[21,53,145,215,283,310,350],"has":[22],"been":[23],"implicated":[24],"as":[25,94,116,333],"genetic":[27],"determinant":[28],"of":[29,129,137,157,210,253,263,268,289,324,331,348],"AD":[30,67,124,181,235,241,353],"across":[31],"populations,":[32],"the":[33,37,60,104,111,120,135,138,164,183,259,269,282,294,305,334,345],"effect":[35],"strongest":[38],"in":[39,52,68,71,151,192,258,271,339,355],"African":[40],"Americans":[41],"(AAs).":[42],"We":[43,99],"previously":[44],"identified":[45],"common":[47],"44":[48],"base":[49],"pair":[50,193],"deletion":[51,84,89,105,139,165,216,270,284,311,351],"(p.Arg578Alafs)":[54],"that":[55,247,274,293],"predicted":[57],"to":[58,88,101,118,123,133,161,243,304,318],"truncate":[59],"protein":[61,113,296],"and":[62,109,143,208,217,227,229,261],"significantly":[64],"associated":[65],"with":[66,180,194],"AAs":[69],"(frequency":[70],"cases":[72],"=":[73,78,81],"15.2%,":[74],"cognitively":[75],"unimpaired":[76],"(CU)":[77],"9.74%,":[79],"p":[80],"1.41\u00d710\u22125).":[82],"Clinically,":[83],"homozygotes":[85],"are":[86,256],"similar":[87],"heterozygotes,":[90],"supporting":[91],"dominant":[92],"gain\u2010of\u2010function":[93],"putative":[96],"disease\u2010causing":[97],"mechanism.":[98,337],"sought":[100],"determine":[102,162],"if":[103,110,163],"transcript":[106,278,315],"stable":[108,276,314],"truncated":[112,168,295],"expressed":[115,280],"steps":[117],"understanding":[119],"mechanism":[121],"leading":[122],"risk.":[125],"Method":[126],"RT\u2010PCR":[127,266],"analysis":[128,156,267,288],"heterozygotes":[130,272],"was":[131,159],"conducted":[132],"assess":[134],"stability":[136],"transcript.":[140],"FLAG\u2010tagged":[141],"Arg578Alafs":[142,184],"wildtype":[144,306],"vectors":[146],"were":[147,190,202],"constructed":[148],"then":[149],"overexpressed":[150,290],"HEK293APPsw":[152],"cells.":[153],"Western":[154,286],"blot":[155,287],"FLAG\u2010Arg578Alafs":[158,291],"performed":[160],"produces":[166,312],"protein.":[169,307,325],"Induced":[170],"pluripotent":[171],"stem":[172],"cell":[173,233],"(iPSC)":[174],"lines":[175,201,221,341],"from":[176,281],"six":[177],"AA":[178],"individuals":[179,245],"bearing":[182],"mutation":[185],"(three":[186],"heterozygous;":[187],"three":[188],"homozygous)":[189],"created":[191],"isogenic":[195,214,340],"CRISPR\u2010corrected":[196,218],"control":[197,219],"lines.":[198],"These":[199],"iPSC":[200,220],"validated":[203],"pluripotency,":[205],"genomic":[206],"stability,":[207],"lack":[209],"off\u2010target":[211],"editing.":[212],"will":[222,342],"be":[223,319],"differentiated":[224],"into":[225,321],"microglia":[226,249],"neurons":[228],"functionally":[230],"assessed":[231],"type\u2010specific":[234],"phenotypes.":[236],"Result":[237],"Initial":[238],"results":[239],"comparing":[240],"patients":[242],"CU":[244],"show":[246],"patient\u2010derived":[248],"have":[250],"normal":[251],"rates":[252],"phagocytosis":[254],"but":[255],"impaired":[257],"uptake":[260],"clearance":[262],"fibrillar":[264],"A\u03b2.":[265],"demonstrates":[273],"RNA":[277],"allele.":[285],"shows":[292],"expressed,":[298],"albeit":[299],"at":[300],"low":[301,322],"levels":[302,323],"compared":[303],"Conclusion":[308],"This":[309,326],"which":[316],"appears":[317],"translated":[320],"supports":[327],"potential":[329],"gain":[330],"function":[332],"Studies":[338],"further":[343],"elucidate":[344],"functional":[346],"effects":[347],"this":[349],"on":[352],"pathology":[354],"AAs.":[356]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2023-12-26T00:00:00"}