{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T10:46:23Z","timestamp":1758278783294},"reference-count":0,"publisher":"Portland Press Ltd.","issue":"3","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1994,3,1]]},"abstract":"1. The plasma lipoprotein profiles of eight members of a Dutch pedigree spanning three generations where two rare apolipoprotein E mutants, APOE*3(Cys-112\u2192Arg; Arg-251\u2192Gly) and APOE*2(Val-236 \u2192Glu), segregate were analysed to determine whether the APOE mutants were associated with dyslipidaemia.<\/jats:p>\n 2. The proband, a 51-year-old Caucasian male, was a carrier of APOE*3(Cys-112\u2192Arg; Arg-251\u2192Gly) and his spouse was a carrier of APOE*2(Val-236\u2192Glu). Four other family members were carriers of one or both of the mutant APOE genes.<\/jats:p>\n 3. The plasma cholesterol and triacylglycerol concentrations were markedly elevated in the proband and were classified as type IV hyperlipoproteinaemia. The plasma triacylglycerol concentration was moderately increased in a sister, who was a carrier of APOE*3(Cys-112\u2192Arg; Arg-251\u2192Gly), and in the son, who was a compound heterozygote for both mutant APOE alleles. Normal plasma lipid levels were observed in all other family members. In the plasma samples of the proband and his family members \u03b2-very-low-density lipoprotein was not detectable and the molar ratio of very-low-density lipoprotein-cholesterol to very-low-density lipoprotein-triacylglycerol was less than 0.9. The concentration of intermediate-density lipoprotein was within normal limits.<\/jats:p>\n 4. None of the family members carrying APOE*3-(Cys-112\u2192Arg; Arg-251\u2192Gly) and\/or APOE*2(Val-236\u2192Glu) exhibited lipoprotein abnormalities characteristic of familial dysbetalipoproteinaemia, although three family members carrying APOE*3-(Cys-112\u2192Arg; Arg-251\u2192Gly) showed hypertriglyceridaemia.<\/jats:p>","DOI":"10.1042\/cs0860323","type":"journal-article","created":{"date-parts":[[2015,8,7]],"date-time":"2015-08-07T11:35:14Z","timestamp":1438947314000},"page":"323-329","update-policy":"http:\/\/dx.doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Lipoprotein Profiles in a Family with Two Mutants of Apolipoprotein E: Possible Association with Hypertriglyceridaemia but Not with Dysbetalipoproteinaemia"],"prefix":"10.1042","volume":"86","author":[{"given":"Shui-Ping","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Cardiology, University of Leiden, Leiden, The Netherlands"},{"name":"Cardiovascular Research Laboratory, Second Affiliated Hospital, Hunan Medical University, Changsha People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arn M. J. M.","family":"Van den Maagdenberg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medical Faculty, University of Leiden, Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ton F. F. P.","family":"Vroom","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University of Leiden, Leiden, The Netherlands"},{"name":"Department of Internal Medicine, University of Leiden, Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferdinand M. Van't","family":"Hooft","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University of Leiden, Leiden, The Netherlands"},{"name":"King Gustav V Research Institute, Karolinska Hospital, Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan A. Gevers","family":"Leuven","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Leiden, Leiden, The Netherlands"},{"name":"Gaubius Laboratory\/IVVO-TNO, Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louis M.","family":"Havekes","sequence":"additional","affiliation":[{"name":"Gaubius Laboratory\/IVVO-TNO, Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rune R.","family":"Frants","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medical Faculty, University of Leiden, Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnoud","family":"Van Der Laarse","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University of Leiden, Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Augustinus H. M.","family":"Smelt","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Leiden, Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","container-title":["Clinical Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/clinsci\/article-pdf\/86\/3\/323\/464473\/cs0860323.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/clinsci\/article-pdf\/86\/3\/323\/464473\/cs0860323.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T22:47:28Z","timestamp":1638398848000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/clinsci\/article\/86\/3\/323\/76099\/Lipoprotein-Profiles-in-a-Family-with-Two-Mutants"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3,1]]},"references-count":0,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,3,1]]}},"URL":"https:\/\/doi.org\/10.1042\/cs0860323","relation":{},"ISSN":["0143-5221","1470-8736"],"issn-type":[{"value":"0143-5221","type":"print"},{"value":"1470-8736","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3,1]]}}}