{"id":"https://openalex.org/W2980320688","doi":"https://doi.org/10.1016/j.jalz.2019.06.3155","title":"P3\u2010127: SEX\u2010SPECIFIC ALTERNATIVE SPLICING REGULATION OF ALZHEIMER'S RISK VARIANTS IN CLU","display_name":"P3\u2010127: SEX\u2010SPECIFIC ALTERNATIVE SPLICING REGULATION OF ALZHEIMER'S RISK VARIANTS IN CLU","publication_year":2019,"publication_date":"2019-07-01","ids":{"openalex":"https://openalex.org/W2980320688","doi":"https://doi.org/10.1016/j.jalz.2019.06.3155","mag":"2980320688"},"language":"en","primary_location":{"id":"doi:10.1016/j.jalz.2019.06.3155","doi":"https://doi.org/10.1016/j.jalz.2019.06.3155","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jalz.2019.06.3155","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.jalz.2019.06.3155","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 &amp; 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/10.1016/j.jalz.2019.06.3155","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5089358091","display_name":"Seonggyun Han","orcid":"https://orcid.org/0000-0003-2227-4953","observed_orcids":["https://orcid.org/0000-0003-2227-4953"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Seonggyun Han","raw_affiliation_strings":["University of Utah School of Medicine, Salt Lake City, UT, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Utah School of Medicine, Salt Lake City, UT, USA","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087302585","display_name":"Kwangsik T. Nho","orcid":"https://orcid.org/0000-0002-7624-3872","observed_orcids":["https://orcid.org/0000-0002-7624-3872"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kwangsik Nho","raw_affiliation_strings":["Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100778649","display_name":"Younghee Lee","orcid":"https://orcid.org/0000-0002-6850-0082","observed_orcids":["https://orcid.org/0000-0002-6850-0082"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Younghee Lee","raw_affiliation_strings":["University of Utah School of Medicine, Salt Lake City, UT, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Utah School of Medicine, Salt Lake City, UT, USA","institution_ids":["https://openalex.org/I223532165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5100778649"],"corresponding_institution_ids":["https://openalex.org/I223532165"],"apc_list":{"value":3150,"currency":"USD","value_usd":3150},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.09537059,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"15","issue":"7S_Part_19","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","score":0.5723000168800354,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","score":0.5723000168800354,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.37959998846054077,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.023399999365210533,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/alzheimer-s-disease","display_name":"Alzheimer's disease","score":0.902999997138977},{"id":"https://openalex.org/keywords/clusterin","display_name":"clusterin","score":0.9079999923706055}],"concepts":[{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.7580289840698242},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.653336226940155},{"id":"https://openalex.org/C2779476363","wikidata":"https://www.wikidata.org/wiki/Q14864935","display_name":"Clusterin","level":3,"score":0.6478847861289978},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.6443551778793335},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5947427749633789},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.5816178321838379},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5373628735542297},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.506259560585022},{"id":"https://openalex.org/C2993858690","wikidata":"https://www.wikidata.org/wiki/Q744385","display_name":"Temporal cortex","level":2,"score":0.4684681296348572},{"id":"https://openalex.org/C2778048536","wikidata":"https://www.wikidata.org/wiki/Q1545429","display_name":"Parahippocampal gyrus","level":4,"score":0.4444110095500946},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.41766855120658875},{"id":"https://openalex.org/C2781099131","wikidata":"https://www.wikidata.org/wiki/Q744385","display_name":"Temporal lobe","level":3,"score":0.362307071685791},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2997105121612549},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.27617931365966797},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.22784829139709473},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.15938407182693481},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.0},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jalz.2019.06.3155","doi":"https://doi.org/10.1016/j.jalz.2019.06.3155","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jalz.2019.06.3155","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.jalz.2019.06.3155","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 &amp; Dementia","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.jalz.2019.06.3155","doi":"https://doi.org/10.1016/j.jalz.2019.06.3155","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jalz.2019.06.3155","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.jalz.2019.06.3155","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 &amp; Dementia","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2980320688.pdf"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3088798758","https://openalex.org/W2090747948","https://openalex.org/W4292865362","https://openalex.org/W6940439424","https://openalex.org/W7098209599","https://openalex.org/W2168036125","https://openalex.org/W1999837492","https://openalex.org/W1983137536","https://openalex.org/W1990463604","https://openalex.org/W4310348011"],"abstract_inverted_index":{"Clusterin":[0],"(CLU)":[1],"is":[2,36],"one":[3],"of":[4,34,52,101,198,236,252,262,274],"GWAS":[5,65],"identified":[6],"Alzheimer's":[7],"disease":[8],"(AD)":[9],"risk":[10,54,85,166,171],"genes":[11],"associated":[12,25,222,232,278],"with":[13,26,181,223,233,248,279],"AD":[14,27,53,84,165,170,206,219],"pathology":[15],"and":[16,64,71,83,106,113,122,125,131,141,164,215],"several":[17],"variants":[18,55],"in":[19,45,56,81,145,173,178,187,201,205,210,217,239,241,269],"CLU":[20,35,57,82,202,240],"have":[21,254],"shown":[22,186],"to":[23,48,76,138,208,259],"be":[24],"risk.":[28],"Previous":[29],"studies":[30],"suggest":[31],"that":[32,194],"expression":[33],"regulated":[37],"by":[38],"alternative":[39,46,59,78,88],"splicing.":[40,60],"Here,":[41],"we":[42],"analyzed":[43],"changes":[44],"splicing":[47,79,89],"identify":[49,77],"the":[50,68,188,211,242,263],"effect":[51],"on":[58],"We":[61,134,156],"used":[62],"RNA-Seq":[63,91,136],"data":[66,92,137],"from":[67,95],"AMP-AD":[69],"study":[70],"conducted":[72],"an":[73,158],"integrative":[74],"analysis":[75,160,192],"events":[80],"SNPs":[86,172],"affecting":[87],"events.":[90],"were":[93,203],"generated":[94],"3":[96],"temporal":[97,108,117,212,243],"lobe":[98],"brain":[99],"regions":[100],"cognitively":[102],"normal":[103],"controls":[104],"(CN)":[105],"AD:":[107],"cortex":[109,213,244],"(TCX,":[110],"78":[111],"CN":[112,121,130,209],"81":[114],"AD),":[115],"superior":[116],"gyrus":[118,127],"(ST,":[119],"101":[120],"60":[123],"AD)":[124],"parahippocampal":[126],"(PH,":[128],"93":[129],"64":[132],"AD).":[133],"mapped":[135],"hg19":[139],"reference":[140],"estimated":[142],"percent":[143],"spliced":[144],"index":[146],"(PSI),":[147],"a":[148,260],"ratio":[149],"between":[150,161],"reads":[151],"including":[152],"or":[153],"excluding":[154],"exon.":[155],"performed":[157],"association":[159],"PSI":[162],"values":[163],"SNPs.":[167],"Among":[168],"7":[169],"CLU,":[174],"rs7982":[175,228,253,275],"was":[176,220,230,276],"located":[177],"5":[179,199,237],"exon":[180,200,238],"intron":[182],"retention":[183,256],"(IR).":[184],"As":[185],"Figure":[189],"1,":[190],"Our":[191],"showed":[193],"decreased":[195,224,255,280],"IR":[196,225,234,281],"rates":[197,226,235,282],"observed":[204],"compared":[207],"(p=0.04)":[214],"only":[216,268],"female,":[218,270],"significantly":[221,231,277],"(p=0.01).":[227],"(A/G)":[229],"(p=0.03),":[245],"where":[246],"individuals":[247],"minor":[249,271],"alleles":[250],"(G)":[251,273],"levels,":[257],"leading":[258],"loss":[261],"cleavage":[264],"site.":[265],"In":[266],"addition,":[267],"allele":[272],"(p=0.001).":[283]},"counts_by_year":[],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2019-10-25T00:00:00"}
