{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T12:14:24Z","timestamp":1776773664339,"version":"3.51.2"},"reference-count":27,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100007263","name":"Astellas Foundation for Research on Metabolic Disorders","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007263","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","lipidjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2020,5]]},"DOI":"10.1016\/j.jacl.2020.03.002","type":"journal-article","created":{"date-parts":[[2020,3,24]],"date-time":"2020-03-24T12:13:07Z","timestamp":1585051987000},"page":"346-351.e9","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":34,"title":["A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia"],"prefix":"10.1016","volume":"14","author":[{"given":"Hayato","family":"Tada","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5459-6984","authenticated-orcid":false,"given":"Mika","family":"Hori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Nomura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2712-1825","authenticated-orcid":false,"given":"Kazuyoshi","family":"Hosomichi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2586-5727","authenticated-orcid":false,"given":"Atsushi","family":"Nohara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masa-aki","family":"Kawashiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariko","family":"Harada-Shiba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacl.2020.03.002_bib1","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s00380-013-0391-5","article-title":"Current perspectives in genetic cardiovascular disorders: from basic to clinical aspects","volume":"29","author":"Kawashiri","year":"2014","journal-title":"Heart Vessels"},{"key":"10.1016\/j.jacl.2020.03.002_bib2","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1093\/eurheartj\/ehx004","article-title":"Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia","volume":"38","author":"Tada","year":"2017","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacl.2020.03.002_bib3","doi-asserted-by":"crossref","first-page":"2578","DOI":"10.1016\/j.jacc.2016.03.520","article-title":"Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia","volume":"67","author":"Khera","year":"2016","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.jacl.2020.03.002_bib4","doi-asserted-by":"crossref","first-page":"2202","DOI":"10.1194\/jlr.D079301","article-title":"Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia","volume":"58","author":"Iacocca","year":"2017","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2020.03.002_bib5","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1016\/j.jacl.2018.08.006","article-title":"Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease","volume":"12","author":"Tada","year":"2018","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2020.03.002_bib6","doi-asserted-by":"crossref","first-page":"869","DOI":"10.5551\/jat.31237","article-title":"Cascade Screening in Familial Hypercholesterolemia: advancing forward","volume":"22","author":"Santos","year":"2015","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.jacl.2020.03.002_bib7","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.atherosclerosis.2014.11.009","article-title":"Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects","volume":"238","author":"Jannes","year":"2015","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2020.03.002_bib8","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1016\/0026-0495(83)90059-8","article-title":"A case of heterozygous familial hypercholesterolemia associated with hyperthyroidism: effects of triiodothyronine on low-density lipoprotein receptor and cholesterol synthesis","volume":"32","author":"Haba","year":"1983","journal-title":"Metabolism"},{"key":"10.1016\/j.jacl.2020.03.002_bib9","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1161\/01.ATV.12.9.1071","article-title":"Siblings with normal LDL receptor activity and severe hypercholesterolemia","volume":"12","author":"Harada-Shiba","year":"1992","journal-title":"Arterioscler Thromb"},{"key":"10.1016\/j.jacl.2020.03.002_bib10","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.cca.2008.10.010","article-title":"A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3\/CD28 assay in lymphocytes","volume":"400","author":"Tada","year":"2009","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jacl.2020.03.002_bib11","doi-asserted-by":"crossref","first-page":"D862","DOI":"10.1093\/nar\/gkv1222","article-title":"ClinVar: public archive of interpretations of clinically relevant variants","volume":"44","author":"Landrum","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jacl.2020.03.002_bib12","doi-asserted-by":"crossref","first-page":"751","DOI":"10.5551\/jat.CR003","article-title":"Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia. Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017","volume":"25","author":"Harada-Shiba","year":"2018","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.jacl.2020.03.002_bib13","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.atherosclerosis.2009.11.018","article-title":"The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation","volume":"210","author":"Noguchi","year":"2010","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2020.03.002_bib14","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.jacl.2015.12.024","article-title":"Proprotein convertase subtilisin\/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia","volume":"10","author":"Ohta","year":"2016","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2020.03.002_bib15","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jacl.2020.03.002_bib16","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jacl.2020.03.002_bib17","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.atherosclerosis.2015.04.003","article-title":"Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene","volume":"240","author":"Tada","year":"2015","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2020.03.002_bib18","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0021-9150(02)00249-6","article-title":"Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population","volume":"165","author":"Yu","year":"2002","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2020.03.002_bib19","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1111\/j.1399-0004.2009.01356.x","article-title":"Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project","volume":"77","author":"Taylor","year":"2010","journal-title":"Clin Genet"},{"key":"10.1016\/j.jacl.2020.03.002_bib20","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1016\/j.atherosclerosis.2012.07.030","article-title":"Genetic analysis of familial hypercholesterolaemia in Western Australia","volume":"224","author":"Hooper","year":"2012","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2020.03.002_bib21","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.atherosclerosissup.2019.01.003","article-title":"Familial hypercholesterolemia in China half a\u00a0century: A review of published literature","volume":"36","author":"Peng","year":"2019","journal-title":"Atheroscler Suppl"},{"key":"10.1016\/j.jacl.2020.03.002_bib22","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1253\/circj.CJ-19-0317","article-title":"Rare and deleterious mutations in ABCG5\/ABCG8 genes contribute to mimicking and worsening of familial hypercholesterolemia phenotype","volume":"83","author":"Tada","year":"2019","journal-title":"Circ J"},{"key":"10.1016\/j.jacl.2020.03.002_bib23","doi-asserted-by":"crossref","first-page":"783","DOI":"10.5551\/jat.RV17024","article-title":"Sitosterolemia, hypercholesterolemia, and coronary artery disease","volume":"25","author":"Tada","year":"2018","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.jacl.2020.03.002_bib24","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/j.jacl.2019.04.099","article-title":"The island of Gran Canaria: a genetic isolate for familial hypercholesterolemia","volume":"13","author":"S\u00e1nchez-Hern\u00e1ndez","year":"2019","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2020.03.002_bib25","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1194\/jlr.D400030-JLR200","article-title":"Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia","volume":"46","author":"Wang","year":"2005","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2020.03.002_bib26","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1016\/S0140-6736(95)92627-5","article-title":"Absence of familial defective apolipoprotein B-100 in Japanese patients with familial hypercholesterolaemia","volume":"345","author":"Nohara","year":"1995","journal-title":"Lancet"},{"key":"10.1016\/j.jacl.2020.03.002_bib27","doi-asserted-by":"crossref","first-page":"189","DOI":"10.5551\/jat.RV16008","article-title":"Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan","volume":"24","author":"Mabuchi","year":"2017","journal-title":"J Atheroscler Thromb"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287420300453?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287420300453?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T13:35:26Z","timestamp":1761831326000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1933287420300453"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["S1933287420300453"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2020.03.002","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2020,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Lipidology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacl.2020.03.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 National Lipid Association. All rights reserved.","name":"copyright","label":"Copyright"}]}}