{"id":"https://openalex.org/W77727271","doi":null,"title":"[Genetic predisposition to dyslipidemia].","display_name":"[Genetic predisposition to dyslipidemia].","publication_year":2013,"publication_date":"2013-02-01","ids":{"openalex":"https://openalex.org/W77727271","mag":"77727271","pmid":"https://pubmed.ncbi.nlm.nih.gov/23672094"},"language":"ja","primary_location":{"id":"pmid:23672094","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23672094","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rinsho byori. The Japanese journal of clinical pathology","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5102814857","display_name":"Satoshi Hirayama","orcid":"https://orcid.org/0000-0003-3303-404X","observed_orcids":["https://orcid.org/0000-0003-3303-404X"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Satoshi Hirayama","raw_affiliation_strings":["Department of Clinical Laboratory Medicine, Juntendo University Graduate School of Medicine, Bunkyo-ku, Tokyo 113-8421, Japan. sthiraya@juntendo.ac.jp"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Laboratory Medicine, Juntendo University Graduate School of Medicine, Bunkyo-ku, Tokyo 113-8421, Japan. sthiraya@juntendo.ac.jp","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013533617","display_name":"Takashi Miida","orcid":"https://orcid.org/0000-0002-4294-8030","observed_orcids":["https://orcid.org/0000-0002-4294-8030"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Takashi Miida","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.4363,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.67454436,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":95},"biblio":{"volume":"61","issue":"2","first_page":"159","last_page":"66"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.8773999810218811,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.8773999810218811,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T13430","display_name":"Lipid metabolism and disorders","score":0.06340000033378601,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.051500000059604645,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/dyslipidemia","display_name":"dyslipidemia","score":0.9419999718666077},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.9520000219345093},{"id":"https://openalex.org/keywords/apolipoproteins","display_name":"apolipoproteins","score":0.8159999847412109},{"id":"https://openalex.org/keywords/lipoprotein-receptors","display_name":"lipoprotein receptors","score":0.9829999804496765},{"id":"https://openalex.org/keywords/pcsk9","display_name":"PCSK9","score":0.7979999780654907},{"id":"https://openalex.org/keywords/autosomal-recessive-hypercholesterolemia","display_name":"autosomal recessive hypercholesterolemia","score":0.9900000095367432},{"id":"https://openalex.org/keywords/npc1l1","display_name":"NPC1L1","score":0.9200000166893005},{"id":"https://openalex.org/keywords/abca1","display_name":"ABCA1","score":0.9599999785423279},{"id":"https://openalex.org/keywords/abcg5-g8","display_name":"ABCG5/G8","score":0.8859999775886536},{"id":"https://openalex.org/keywords/ezetimibe","display_name":"ezetimibe","score":0.9089999794960022},{"id":"https://openalex.org/keywords/cholesterol-metabolism","display_name":"cholesterol metabolism","score":0.6470000147819519},{"id":"https://openalex.org/keywords/cholesterol-transporters","display_name":"cholesterol transporters","score":0.6240000128746033},{"id":"https://openalex.org/keywords/familial-hypercholesterolemia","display_name":"familial hypercholesterolemia","score":0.8579999804496765},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.531000018119812},{"id":"https://openalex.org/keywords/lipid-lowering-therapy","display_name":"lipid-lowering therapy","score":0.8050000071525574}],"concepts":[{"id":"https://openalex.org/C2778657065","wikidata":"https://www.wikidata.org/wiki/Q417997","display_name":"Ezetimibe","level":3,"score":0.8755150437355042},{"id":"https://openalex.org/C2780948078","wikidata":"https://www.wikidata.org/wiki/Q21130010","display_name":"PCSK9","level":5,"score":0.7926867008209229},{"id":"https://openalex.org/C2778096610","wikidata":"https://www.wikidata.org/wiki/Q1476525","display_name":"Dyslipidemia","level":3,"score":0.5802605152130127},{"id":"https://openalex.org/C2779120738","wikidata":"https://www.wikidata.org/wiki/Q2711291","display_name":"Familial hypercholesterolemia","level":3,"score":0.5639113187789917},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.4798395335674286},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.47890010476112366},{"id":"https://openalex.org/C2778824825","wikidata":"https://www.wikidata.org/wiki/Q7250439","display_name":"Proprotein convertase","level":5,"score":0.46013420820236206},{"id":"https://openalex.org/C4733338","wikidata":"https://www.wikidata.org/wiki/Q2792936","display_name":"Lipid metabolism","level":2,"score":0.4379871189594269},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.4357702136039734},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4349963366985321},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41923388838768005},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3887483477592468},{"id":"https://openalex.org/C43554185","wikidata":"https://www.wikidata.org/wiki/Q425649","display_name":"LDL receptor","level":4,"score":0.38480061292648315},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.3260953724384308},{"id":"https://openalex.org/C2780072125","wikidata":"https://www.wikidata.org/wiki/Q28350","display_name":"Lipoprotein","level":3,"score":0.28663313388824463},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.220645010471344},{"id":"https://openalex.org/C511355011","wikidata":"https://www.wikidata.org/wiki/Q12174","display_name":"Obesity","level":2,"score":0.12782496213912964}],"mesh":[{"descriptor_ui":"D000071449","descriptor_name":"Proprotein Convertase 9","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001692","descriptor_name":"Biological Transport","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011973","descriptor_name":"Receptors, LDL","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012697","descriptor_name":"Serine Endopeptidases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D043484","descriptor_name":"Proprotein Convertases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050171","descriptor_name":"Dyslipidemias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D050171","descriptor_name":"Dyslipidemias","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D050356","descriptor_name":"Lipid Metabolism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:23672094","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23672094","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rinsho byori. The Japanese journal of clinical pathology","raw_type":"Journal Article"},{"id":"mag:77727271","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23672094","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9940000176429749}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2552644316","https://openalex.org/W3185458972","https://openalex.org/W2951317411","https://openalex.org/W7139911275","https://openalex.org/W2606231379","https://openalex.org/W428927957","https://openalex.org/W7160888915","https://openalex.org/W7162491554","https://openalex.org/W2991355134","https://openalex.org/W3112251378"],"abstract_inverted_index":{"Lipid":[0],"metabolism":[1,75],"is":[2,131,185],"regulated":[3],"by":[4],"several":[5],"factors,":[6],"such":[7],"as":[8,94,121,133],"apolipoproteins,":[9],"lipoprotein":[10],"receptors,":[11],"enzymes,":[12],"and":[13,61,87,115,128,172,180,197],"transfer":[14],"proteins.":[15],"From":[16],"the":[17,35,51,58,209,225],"early":[18],"1980s":[19],"until":[20],"now,":[21],"molecular":[22],"biology":[23],"has":[24],"been":[25,44,154],"developing":[26],"rapidly.":[27],"Hence,":[28],"genetic":[29,41,55,189,201],"analyses":[30,202],"have":[31,43,152],"accelerated":[32],"all":[33,162],"over":[34],"world.":[36],"Using":[37],"these":[38],"techniques,":[39],"many":[40],"investigations":[42],"performed":[45],"in":[46,97,124,157,191,208],"large-scale":[47],"studies,":[48],"which":[49,72,221],"revealed":[50],"close":[52],"associations":[53],"between":[54],"abnormalities":[56,190],"of":[57,64,136,147],"above-mentioned":[59],"factors":[60],"a":[62,134,138,144],"variety":[63],"dyslipidemic":[65,170],"disorders.":[66],"In":[67,164],"recent":[68],"years,":[69],"novel":[70],"genes":[71,96,160],"regulate":[73],"cholesterol":[74,122,139],"were":[76,92,118],"reported.":[77],"For":[78],"instance,":[79],"proprotein":[80],"convertase":[81],"subtilisin":[82],"kexin":[83],"type":[84],"9":[85],"(PCSK9)":[86],"autosomal":[88],"recessive":[89],"hypercholesterolemia":[90],"(ARH)":[91],"found":[93],"causal":[95,174],"patients":[98],"whose":[99],"phenotypes":[100],"are":[101,203],"similar":[102],"to":[103,187,205,224],"familial":[104],"hypercholesterolemia.":[105],"Niemann-Pick":[106],"C1-Like":[107],"1":[108],"(NPC1L1),":[109],"ATP-binding":[110],"cassette":[111],"(ABC)":[112],"A1":[113],"(ABCA1),":[114],"G5/G8":[116],"(ABCG5/G8)":[117],"also":[119],"identified":[120],"transporters":[123],"intestinal":[125],"epithelial":[126],"cells":[127],"hepatocytes.":[129],"NPC1L1":[130],"recognized":[132],"target":[135],"ezetimibe,":[137],"absorption":[140],"inhibitor":[141],"classified":[142],"into":[143],"new":[145],"class":[146],"lipid-lowering":[148],"agents.":[149],"However,":[150],"we":[151,167],"not":[153],"fully":[155],"successful":[156],"identifying":[158],"candidate":[159],"for":[161,200,218,227],"dyslipidemias.":[163],"this":[165],"review,":[166],"summarize":[168],"major":[169],"disorders":[171],"their":[173],"genes,":[175],"pathosis,":[176],"clinical":[177,192],"features,":[178],"diagnosis,":[179],"therapeutic":[181],"approaches.":[182],"Because":[183],"it":[184],"difficult":[186],"analyze":[188],"laboratories":[193],"at":[194],"present,":[195],"simple":[196],"convenient":[198],"procedures":[199],"expected":[204],"be":[206],"developed":[207],"near":[210],"future.":[211],"Such":[212],"techniques":[213],"may":[214,222],"reveal":[215],"unknown":[216],"pathologics":[217],"heritable":[219],"dyslipidemias,":[220],"lead":[223],"search":[226],"potential":[228],"drug":[229],"targets.":[230]},"counts_by_year":[{"year":2015,"cited_by_count":2}],"updated_date":"2026-11-02T09:45:03.842371","created_date":"2016-06-24T00:00:00"}
