A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts

• Material Type: 記事
• Title: A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts
• Author Heading: Yamakawa Noriyuki; Oe Kengo; Yukawa Naoichiro; Murakami Kosaku; https://orcid.org/0000-0001-5981-4648; Nakashima Ran; Imura Yoshitaka; Yoshifuji Hajime; https://orcid.org/0000-0001-7082-4900; Ohmura Koichiro; Miura Yasuo; https://orcid.org/0000-0003-3664-6324; Tomosugi Naohisa; Kawabata Hiroshi; Takaori-Kondo Akifumi; https://ci.nii.ac.jp/author/DA16955283; Mimori Tsuneyo
• Publication Date: 2016
• Publication Date (W3CDTF): 2016
• Contributor: 湯川, 尚一郎; 井村, 嘉孝; 吉藤, 元; 大村, 浩一郎; 川端, 浩; 三森, 経世; 70599927; 20422975; 40432372; 70605146
• Periodical title: Internal Medicine
• No. or year of volume/issue: 55 18
• Volume: 55
• Issue: 18
• Pages: 2697-2701
• Publication date of volume/issue (W3CDTF): 2016
• ISSN (Periodical Title): 09182918; 13497235
• Publication (Periodical Title): The Japanese Society of Internal Medicine
• Text Language Code: en
• Subject Heading: hereditary hemochromatosis type 4; ferroportin; juvenile cataracts; hereditary hyperferritinemia cataract syndrome
• Target Audience: 一般
• Standard No. (Other): PMID : 27629970
• DOI: 10.2169/internalmedicine.55.6565
• Access Restrictions: インターネット公開
• Related Material (URI): http://hdl.handle.net/2433/218931; https://www.jstage.jst.go.jp/article/internalmedicine/55/18/55_55.6565/_pdf; https://search.jamas.or.jp/link/ui/2017191517
• Is Referenced By: The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis; https://cir.nii.ac.jp/crid/1360002215486359168; Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1: a case report; https://cir.nii.ac.jp/crid/1360290617516368640
• References: Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders; https://cir.nii.ac.jp/crid/1050001335953784448; Non-<i>HFE</i>Hepatic Iron Overload; https://cir.nii.ac.jp/crid/1360011144770965888; Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload; https://cir.nii.ac.jp/crid/1360292620434181376; A Mutation, in the Iron-Responsive Element of H Ferritin mRNA, Causing Autosomal Dominant Iron Overload; https://cir.nii.ac.jp/crid/1360292621219978368; Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load; https://cir.nii.ac.jp/crid/1360855568866688640; Lens Opacities in Thalassemia; https://cir.nii.ac.jp/crid/1360857625055748224; Ferroportin-mediated mobilization of ferritin iron precedes ferritin degradation by the proteasome; https://cir.nii.ac.jp/crid/1361137044610077952; Hepcidin Regulates Cellular Iron Efflux by Binding to Ferroportin and Inducing Its Internalization; https://cir.nii.ac.jp/crid/1361699994602776576; Global Sequencing Approach for Characterizing the Molecular Background of Hereditary Iron Disorders; https://cir.nii.ac.jp/crid/1362544419003127424; The ferritins: molecular properties, iron storage function and cellular regulation; https://cir.nii.ac.jp/crid/1362825896220216192; Comprehensive Mutational Screening in a Cohort of Danish Families with Hereditary Congenital Cataract; https://cir.nii.ac.jp/crid/1363107370287164160; Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload; https://cir.nii.ac.jp/crid/1363107370800721152; Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease; https://cir.nii.ac.jp/crid/1363107370987451904; Ferritin functions as a proinflammatory cytokine via iron‐independent protein kinase C zeta/nuclear factor kappaB–regulated signaling in rat hepatic stellate cells†; https://cir.nii.ac.jp/crid/1363951793220597248; Hereditary hyperferritinaemia cataract syndrome; https://cir.nii.ac.jp/crid/1363951794116987392; Development of lens opacities with peculiar characteristics in patients affected by thalassemia major on chelating treatment with deferasirox (ICL670) at the Pediatric Clinic in Monza, Italy; https://cir.nii.ac.jp/crid/1364233268470644480; Hemochromatosis with Mutation of the Ferroportin 1 (IREG1) Gene; https://cir.nii.ac.jp/crid/1390001204868917888; A Japanese Family with Ferroportin Disease Caused by a Novel Mutation of SLC40A1 Gene: Hyperferritinemia Associated with a Relatively Low Transferrin Saturation of Iron; https://cir.nii.ac.jp/crid/1390282679846392704
• Data Provider (Database): 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• Original Data Provider (Database): Japan Link Center; https://japanlinkcenter.org/top; 学術機関リポジトリデータベース; https://irdb.nii.ac.jp; Crossref; https://www.crossref.org; PubMed; https://pubmed.ncbi.nlm.nih.gov; CiNii Articles
• NAID: 130005414817

• Summary, etc.: <p>Hereditary hemochromatosis (HH) is an inherited disorder usually seen in Northern Europeans, which results in iron overload syndrome. A few cases h...