{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T14:19:10Z","timestamp":1697811550118},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,8,17]],"date-time":"2011-08-17T00:00:00Z","timestamp":1313539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary haemochromatosis (<jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content>), which is mainly associated with a C282Y polymorphism in <jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content>, is common among <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>aucasians of north <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>uropean descent, but is very rare among <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>sians. Herein, we report a 43\u2010year\u2010old <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese man who was diagnosed as having <jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content>. A laboratory examination revealed an elevated serum iron level (280\u00a0\u03bcg\/dl), hyperferritinemia (1698\u00a0ng\/ml) and a low serum level of hepcidin\u201025 (4.0\u00a0ng\/ml). Abdominal magnetic resonance imaging revealed findings suggestive of iron accumulation in the liver and pancreas. <jats:italic>HFE<\/jats:italic> gene sequencing in the patient revealed a novel homozygous <jats:styled-content style=\"fixed-case\">TAC<\/jats:styled-content> nucleotide deletion (c. 691_693del) responsible for the loss of a tyrosine at position 231 (p. Y231del) of the <jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content> protein. This homozygous <jats:styled-content style=\"fixed-case\">Y<\/jats:styled-content>231del mutation was recently found in the <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>uh\u20107 hepatoma cell line and was shown to prevent the translocation of <jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content> to the cell surface. This clinical case provides <jats:italic>in vivo<\/jats:italic> evidence suggesting that <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>uh\u20107 is undoubtedly a human haemochromatotic cell line and, as such, is a valuable tool for investigating the pathogenesis of <jats:styled-content style=\"fixed-case\"><jats:italic>HFE<\/jats:italic><\/jats:styled-content>\u2010related HH in humans.<\/jats:p>","DOI":"10.1111\/j.1478-3231.2011.02620.x","type":"journal-article","created":{"date-parts":[[2011,8,18]],"date-time":"2011-08-18T03:04:49Z","timestamp":1313636689000},"page":"1593-1597","source":"Crossref","is-referenced-by-count":11,"title":["A novel <scp>Y<\/scp>231del mutation of <scp>HFE<\/scp> in hereditary haemochromatosis provides <i>in vivo<\/i> evidence that the <scp>H<\/scp>uh\u20107 is a human haemochromatotic cell line"],"prefix":"10.1111","volume":"31","author":[{"given":"Atsuko","family":"Takano","sequence":"first","affiliation":[{"name":"Saiseikai Takaoka Hospital Takaoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Niimi","sequence":"additional","affiliation":[{"name":"Clinical Laboratory Center Toyama University Hospital Toyama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinari","family":"Atarashi","sequence":"additional","affiliation":[{"name":"Toyama Rosai Hospital Uozu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuro","family":"Sawasaki","sequence":"additional","affiliation":[{"name":"Saiseikai Takaoka Hospital Takaoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teiichi","family":"Terasaki","sequence":"additional","affiliation":[{"name":"Saiseikai Takaoka Hospital Takaoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoyuki","family":"Nakabayashi","sequence":"additional","affiliation":[{"name":"Saiseikai Takaoka Hospital Takaoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isao","family":"Kitajima","sequence":"additional","affiliation":[{"name":"Clinical Laboratory Center Toyama University Hospital Toyama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuyuki","family":"Tobe","sequence":"additional","affiliation":[{"name":"First Department of Internal Medicine University of Toyama Toyama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terumi","family":"Takahara","sequence":"additional","affiliation":[{"name":"Third Department of Internal Medicine University of Toyama Toyama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,8,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2010.06.013"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-399"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(02)80116-0"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2001.04058.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.23.12384"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.4.1472"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.23410"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00535-010-0259-8"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-11-057471"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(00)01920-7"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M008922200"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1104742"},{"key":"e_1_2_5_14_1","doi-asserted-by":"crossref","unstructured":"KautzL NemethE.Novel tools for the evaluation of iron metabolism.Haematologica2010;95:1989\u201391.","DOI":"10.3324\/haematol.2010.033993"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-06-096503"},{"key":"e_1_2_5_16_1","first-page":"3858","article-title":"Growth of human hepatoma cells lines with differentiated functions in chemically defined medium","volume":"42","author":"Nakabayashi H","year":"1982","journal-title":"Cancer Res"}],"container-title":["Liver 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