{"id":"https://openalex.org/W94522078","doi":null,"title":"Expression and Splicing of Alzheimer\u2019s Disease Risk Gene Phosphatidylinositol-Binding Clathrin Assembly Protein","display_name":"Expression and Splicing of Alzheimer\u2019s Disease Risk Gene Phosphatidylinositol-Binding Clathrin Assembly Protein","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W94522078","mag":"94522078"},"language":"en","primary_location":{"id":"pmh:oai:uknowledge.uky.edu:physiology_etds-1017","doi":null,"is_oa":true,"landing_page_url":"https://uknowledge.uky.edu/physiology_etds/18","pdf_url":"https://uknowledge.uky.edu/physiology_etds/18","source":{"id":"https://openalex.org/S4306402623","display_name":"UKnowledge (University of Kentucky)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I143302722","host_organization_name":"University of Kentucky","host_organization_lineage":["https://openalex.org/I143302722"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Theses and Dissertations--Physiology","raw_type":"text"},"volume":null,"type":"article","indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://uknowledge.uky.edu/physiology_etds/18","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065749618","display_name":"Ishita J. Parikh","orcid":"https://orcid.org/0000-0001-9335-733X","observed_orcids":["https://orcid.org/0000-0001-9335-733X"]},"institutions":[{"id":"https://openalex.org/I143302722","display_name":"University of Kentucky","ror":"https://ror.org/02k3smh20","country_code":"US","type":"education","lineage":["https://openalex.org/I143302722"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Ishita Parikh","raw_affiliation_strings":["#N##TAB##TAB##TAB##TAB# Univ. of Kentucky#N##TAB##TAB##TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"#N##TAB##TAB##TAB##TAB# Univ. of Kentucky#N##TAB##TAB##TAB#","institution_ids":["https://openalex.org/I143302722"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5065749618"],"corresponding_institution_ids":["https://openalex.org/I143302722"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0070393,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"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":0.9804999828338623,"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":0.9804999828338623,"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":0.005400000140070915,"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/T10604","display_name":"RNA Research and Splicing","score":0.00419999985024333,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/alzheimer-s-disease","display_name":"Alzheimer's disease","score":0.9520000219345093},{"id":"https://openalex.org/keywords/picalm","display_name":"PICALM","score":0.9980000257492065},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9010000228881836},{"id":"https://openalex.org/keywords/gene-expression","display_name":"gene expression","score":0.7620000243186951},{"id":"https://openalex.org/keywords/alternative-splicing","display_name":"alternative splicing","score":0.9470000267028809},{"id":"https://openalex.org/keywords/splice-variants","display_name":"splice variants","score":0.9800000190734863},{"id":"https://openalex.org/keywords/glial-fibrillary-acidic-protein","display_name":"glial fibrillary acidic protein","score":0.921999990940094},{"id":"https://openalex.org/keywords/synaptophysin","display_name":"synaptophysin","score":0.9929999709129333},{"id":"https://openalex.org/keywords/genetic-risk-factors","display_name":"genetic risk factors","score":0.421999990940094}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7350403070449829},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6561437845230103},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5515630841255188},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.49430322647094727},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.4847797751426697},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.48390230536460876},{"id":"https://openalex.org/C89604277","wikidata":"https://www.wikidata.org/wiki/Q424345","display_name":"Untranslated region","level":4,"score":0.42100173234939575},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.31015831232070923},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.13499391078948975},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.10254114866256714}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:uknowledge.uky.edu:physiology_etds-1017","doi":null,"is_oa":true,"landing_page_url":"https://uknowledge.uky.edu/physiology_etds/18","pdf_url":"https://uknowledge.uky.edu/physiology_etds/18","source":{"id":"https://openalex.org/S4306402623","display_name":"UKnowledge (University of Kentucky)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I143302722","host_organization_name":"University of Kentucky","host_organization_lineage":["https://openalex.org/I143302722"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Theses and Dissertations--Physiology","raw_type":"text"},{"id":"mag:94522078","doi":null,"is_oa":false,"landing_page_url":"https://uknowledge.uky.edu/cgi/viewcontent.cgi?article=1017&context=physiology_etds","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:uknowledge.uky.edu:physiology_etds-1017","doi":null,"is_oa":true,"landing_page_url":"https://uknowledge.uky.edu/physiology_etds/18","pdf_url":"https://uknowledge.uky.edu/physiology_etds/18","source":{"id":"https://openalex.org/S4306402623","display_name":"UKnowledge (University of Kentucky)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I143302722","host_organization_name":"University of Kentucky","host_organization_lineage":["https://openalex.org/I143302722"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Theses and Dissertations--Physiology","raw_type":"text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W94522078.pdf","grobid_xml":"https://content.openalex.org/works/W94522078.grobid-xml"},"referenced_works_count":112,"referenced_works":["https://openalex.org/W206978487","https://openalex.org/W1502820594","https://openalex.org/W1519477212","https://openalex.org/W1544762103","https://openalex.org/W1554557480","https://openalex.org/W1570050776","https://openalex.org/W1606221841","https://openalex.org/W1847168837","https://openalex.org/W1897148051","https://openalex.org/W1966831629","https://openalex.org/W1967355646","https://openalex.org/W1977703220","https://openalex.org/W1987832889","https://openalex.org/W1989069798","https://openalex.org/W1989087267","https://openalex.org/W1990713427","https://openalex.org/W1993355802","https://openalex.org/W1995650022","https://openalex.org/W1995744695","https://openalex.org/W1996419189","https://openalex.org/W1998498074","https://openalex.org/W2002592274","https://openalex.org/W2002989619","https://openalex.org/W2004274427","https://openalex.org/W2006534012","https://openalex.org/W2008301592","https://openalex.org/W2010192073","https://openalex.org/W2010846728","https://openalex.org/W2011634611","https://openalex.org/W2012061030","https://openalex.org/W2014670147","https://openalex.org/W2017079501","https://openalex.org/W2017552913","https://openalex.org/W2018423808","https://openalex.org/W2020815630","https://openalex.org/W2025913180","https://openalex.org/W2027007493","https://openalex.org/W2028067793","https://openalex.org/W2028169010","https://openalex.org/W2032920422","https://openalex.org/W2033356439","https://openalex.org/W2034602668","https://openalex.org/W2036755018","https://openalex.org/W2045128134","https://openalex.org/W2046209489","https://openalex.org/W2046234674","https://openalex.org/W2048621255","https://openalex.org/W2051629075","https://openalex.org/W2052742260","https://openalex.org/W2052818071","https://openalex.org/W2053403691","https://openalex.org/W2058723245","https://openalex.org/W2059089115","https://openalex.org/W2062721935","https://openalex.org/W2063234388","https://openalex.org/W2066011396","https://openalex.org/W2070448139","https://openalex.org/W2072074212","https://openalex.org/W2073781365","https://openalex.org/W2078524519","https://openalex.org/W2081881251","https://openalex.org/W2082211142","https://openalex.org/W2083299396","https://openalex.org/W2090097368","https://openalex.org/W2091193493","https://openalex.org/W2094702043","https://openalex.org/W2095114469","https://openalex.org/W2100448568","https://openalex.org/W2107279090","https://openalex.org/W2108475007","https://openalex.org/W2115106388","https://openalex.org/W2115779804","https://openalex.org/W2118140245","https://openalex.org/W2118610877","https://openalex.org/W2119679926","https://openalex.org/W2120382817","https://openalex.org/W2121820194","https://openalex.org/W2121859722","https://openalex.org/W2122732537","https://openalex.org/W2125172225","https://openalex.org/W2125437798","https://openalex.org/W2126108937","https://openalex.org/W2128111072","https://openalex.org/W2128476271","https://openalex.org/W2129085204","https://openalex.org/W2130144581","https://openalex.org/W2131744731","https://openalex.org/W2133691274","https://openalex.org/W2134812217","https://openalex.org/W2136750984","https://openalex.org/W2138357019","https://openalex.org/W2138746692","https://openalex.org/W2140718540","https://openalex.org/W2143616686","https://openalex.org/W2145210308","https://openalex.org/W2146535845","https://openalex.org/W2146729934","https://openalex.org/W2146734921","https://openalex.org/W2147149482","https://openalex.org/W2150724305","https://openalex.org/W2152119060","https://openalex.org/W2154273881","https://openalex.org/W2161633633","https://openalex.org/W2166336042","https://openalex.org/W2166342070","https://openalex.org/W2167720733","https://openalex.org/W2169715537","https://openalex.org/W2170415197","https://openalex.org/W2171610997","https://openalex.org/W2321696726","https://openalex.org/W2395932108","https://openalex.org/W2433102948"],"related_works":["https://openalex.org/W2107279090","https://openalex.org/W7099788225","https://openalex.org/W2017552913","https://openalex.org/W7125712522","https://openalex.org/W1554557480","https://openalex.org/W2005434978","https://openalex.org/W2367013693","https://openalex.org/W2025332783","https://openalex.org/W1830808532","https://openalex.org/W2143616686"],"abstract_inverted_index":{"Recent":[0],"Genome":[1],"Wide":[2],"Association":[3],"Studies":[4],"(GWAS)":[5],"have":[6],"identified":[7,111],"a":[8,241,259,287],"series":[9],"of":[10,23,125,128,173,181,211,243,263,293],"single":[11],"nucleotide":[12],"polymorphism":[13],"(SNP)s":[14],"that":[15,156],"are":[16],"associated":[17,43,273],"with":[18,44,274],"Alzheimer\u2019s":[19],"disease":[20],"(AD).":[21],"One":[22,245],"the":[24,30,151,164,178,182,209,222,226,291],"SNPs,":[25],"rs3851179":[26,79,142,147],"(G/A),":[27],"is":[28,42,163],"near":[29],"gene":[31],"phosphatidylinositol-binding":[32],"clathrin":[33],"assembly":[34],"protein":[35,87],"(PICALM).":[36],"To":[37,94,119],"evaluate":[38],"whether":[39],"this":[40,284],"SNP":[41,100,270],"PICALM":[45,49,62,107,113,157,265,268,297],"expression,":[46,254],"we":[47,60,102,131,154,220],"quantified":[48],"mRNA":[50],"in":[51,136,202,214,240,296],"56":[52],"brain":[53,104],"cDNA":[54,105,137,215],"samples.":[55],"Using":[56],"linear":[57],"regression":[58],"analysis,":[59],"analyzed":[61,221],"expression":[63,190,236,298],"relative":[64,126],"to":[65,186,207],"rs3851179,":[66],"AD":[67,294],"status,":[68],"and":[69,80,90,121,145,216,231,299],"cell":[70],"type":[71],"specific":[72],"markers.":[73],"An":[74],"association":[75],"was":[76,247,272],"detected":[77,170],"between":[78],"PICALM,":[81],"microvessel":[82],"mRNA,":[83,89],"glial":[84],"fibrillary":[85],"acidic":[86],"(GFAP)":[88],"synaptophysin":[91],"(SYN)":[92],"mRNA.":[93],"gain":[95,122],"clarity":[96],"into":[97,290],"other":[98],"possible":[99],"mechanisms,":[101],"searched":[103],"for":[106,197],"splice":[108,114,129],"variants.":[109],"We":[110,176],"several":[112],"variants":[115],"involving":[116],"exons":[117,134,229],"13-19.":[118],"identify":[120],"an":[123,248],"estimation":[124],"abundance":[127,210],"variants,":[130],"PCR-amplified":[132],"across":[133],"13-20":[135],"from":[138],"six":[139],"individuals,":[140],"three":[141,146],"GG":[143],"individuals":[144],"AA":[148],"individuals.":[149,244],"Sequencing":[150],"cloned":[152],"isoforms":[153,169],"found":[155],"lacking":[158,228],"exon":[159,174,184,203],"13":[160],"(delta":[161],"13)":[162],"most":[165],"abundant":[166],"isoform.":[167],"Other":[168],"included":[171],"deletion":[172],"18-19.":[175],"targeted":[177],"latter":[179],"part":[180],"gene,":[183],"17-20,":[185],"investigate":[187],"unequal":[188,234,252],"allelic":[189,224,235,253],"using":[191],"next":[192],"generation":[193],"sequencing.":[194],"Individuals":[195],"heterozygous":[196],"rs76719109":[198],"(n=":[199],"35),":[200],"located":[201],"17,":[204],"were":[205],"used":[206],"study":[208,285],"G/T":[212],"allele":[213],"genomic":[217],"DNA.":[218],"When":[219],"T:G":[223],"ratio,":[225],"variant":[227],"18":[230],"19":[232],"showed":[233],"(p-value":[237,279],"<":[238,280],"0.001)":[239],"subset":[242],"individual":[246],"outlier,":[249],"showing":[250],"overall":[251],"which":[255],"maybe":[256],"be":[257],"harboring":[258],"rare":[260],"mutation":[261],"capable":[262],"modifying":[264],"expression.":[266],"The":[267],"intronic":[269],"rs588076":[271],"delta":[275],"18-19":[276],"isoform":[277],"splicing":[278],"0.001).":[281],"In":[282],"conclusion,":[283],"gained":[286],"greater":[288],"insight":[289],"role":[292],"genetics":[295],"splicing.":[300]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-06-24T00:00:00"}