{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:35:19Z","timestamp":1790231719451,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,9,21]],"date-time":"2004-09-21T00:00:00Z","timestamp":1095724800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tangier disease (TD), a rare disorder characterized by extremely low levels of high density lipoprotein cholesterol (HDL\u2010C), is caused by mutations in the ATP\u2010binding cassette transporter A1 (<jats:italic>ABCA1<\/jats:italic>) gene. Here, we describe a new patient with TD. The 42\u2010year\u2010old proband had obvious juvenile cataracts, mild hepatosplenomegaly, and an extremely low level of HDL\u2010C (1 mg\/dl), consistent with the diagnosis of TD. The proband was homozygous for a novel CTC6914\u20106TT\u2009\u2192\u20092203X mutation in the carboxy terminus of the ABCA1 protein. ApoAI\u2010mediated cholesterol efflux from patient fibroblasts was markedly decreased compared to control, despite normal levels of protein expression. This indicates that this mutant protein is normally transcribed and exists as a stable product, yet is functionally defective. These results point to a critical role for the intracellular C\u2010terminal region of the <jats:italic>ABCA1<\/jats:italic> gene product in regulating cholesterol efflux and HDL\u2010cholesterol levels. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30284","type":"journal-article","created":{"date-parts":[[2004,9,21]],"date-time":"2004-09-21T23:09:03Z","timestamp":1095808143000},"page":"398-401","source":"Crossref","is-referenced-by-count":8,"title":["A case of tangier disease with a novel mutation in the c\u2010terminal region of ATP\u2010binding cassette transporter A1"],"prefix":"10.1002","volume":"130A","author":[{"given":"Jing\u2010Zhi","family":"Guan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Tamasawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liam R.","family":"Brunham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Matsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Murakami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiro","family":"Suda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeru","family":"Ochiai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Tsutsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Kudou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Satoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Hayden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,9,21]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"The metabolic and molecular bases of inherited disease","author":"Assmann G","year":"1995"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/11905"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/S0022-2275(20)34482-5","article-title":"Novel mutations in the gene encoding ATP\u2010binding cassette 1 in four Tangier disease kindreds","volume":"41","author":"Brousseau ME","year":"2000","journal-title":"J Lipid Res"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(02)00303-0"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10727"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.103.9.1198"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M105805200"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.56.12.937"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI8119"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)07026-9"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.0000078520.89539.77"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200316808"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3780421"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30284","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30284","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T21:26:34Z","timestamp":1696973194000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,21]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,11]]}},"alternative-id":["10.1002\/ajmg.a.30284"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30284","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,21]]}}}