{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:06:05Z","timestamp":1773270365659,"version":"3.50.1"},"reference-count":10,"publisher":"American Society of Hematology","issue":"8","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2005,10,15]]},"DOI":"10.1182\/blood-2005-04-1630","type":"journal-article","created":{"date-parts":[[2005,10,3]],"date-time":"2005-10-03T17:48:47Z","timestamp":1128361727000},"page":"2922-2923","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":20,"title":["A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron"],"prefix":"10.1182","volume":"106","author":[{"given":"Grac\u0327a","family":"Porto","sequence":"first","affiliation":[]},{"given":"Antonella","family":"Roetto","sequence":"additional","affiliation":[]},{"given":"Filomena","family":"Daraio","sequence":"additional","affiliation":[]},{"given":"Jorge Pereira","family":"Pinto","sequence":"additional","affiliation":[]},{"given":"Susana","family":"Almeida","sequence":"additional","affiliation":[]},{"given":"Conceic\u0327a\u0303o","family":"Bacelar","sequence":"additional","affiliation":[]},{"given":"Elizabeth","family":"Nemeth","sequence":"additional","affiliation":[]},{"given":"Tomas","family":"Ganz","sequence":"additional","affiliation":[]},{"given":"Clara","family":"Camaschella","sequence":"additional","affiliation":[]}],"member":"234","reference":[{"key":"2020021219531399900_REF1","doi-asserted-by":"crossref","unstructured":"Ganz T. Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation. Blood.2003;102: 783-788.","DOI":"10.1182\/blood-2003-03-0672"},{"key":"2020021219531399900_REF2","doi-asserted-by":"crossref","unstructured":"Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet.2003;33: 21-22.","DOI":"10.1038\/ng1053"},{"key":"2020021219531399900_REF3","doi-asserted-by":"crossref","unstructured":"Roetto A, Daraio F, Porporato P, et al. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood.2004;103: 2407-2409.","DOI":"10.1182\/blood-2003-10-3390"},{"key":"2020021219531399900_","doi-asserted-by":"crossref","unstructured":"Majore S, Binni F, Pennese A, De Santis A, Crisi A, Grammatico P. HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis. Hum Mutat.2004;4: 400.","DOI":"10.1002\/humu.9232"},{"key":"2020021219531399900_REF5","doi-asserted-by":"crossref","unstructured":"Delatycki M, Allen K, Gow P, et al. A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant hemochromatosis. Clin Genet.2004;65: 378-383.","DOI":"10.1111\/j.0009-9163.2004.00254.x"},{"key":"2020021219531399900_REF6","doi-asserted-by":"crossref","unstructured":"Matthes T, Aguilar-Martinez P, Pizzi-Bosman L, et al. Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'UTR of the HAMP gene. Blood.2004;104: 2181-2183.","DOI":"10.1182\/blood-2004-01-0332"},{"key":"2020021219531399900_REF7","doi-asserted-by":"crossref","unstructured":"Porto G, Cruz E, Pessegueiro Miranda H, et al. Growth hormone (GH)-induced reconstitution of CD8+CD28+ T lymphocytes in a rare case of severe lymphopenia associated with juvenile hemochromatosis and Turner's syndrome. Clin Endocr.2004;61: 437-440.","DOI":"10.1111\/j.1365-2265.2004.02069.x"},{"key":"2020021219531399900_REF8","doi-asserted-by":"crossref","unstructured":"Lanzara C, Roetto A, Daraio F, et al. The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood.2004;103: 4317-4321.","DOI":"10.1182\/blood-2004-01-0192"},{"key":"2020021219531399900_REF9","doi-asserted-by":"crossref","unstructured":"Nemeth E, Rivera S, Gabayan V, et al. IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin. J Clin Invest.2004;113: 1271-1276.","DOI":"10.1172\/JCI200420945"},{"key":"2020021219531399900_REF10","doi-asserted-by":"crossref","unstructured":"Kanaji T, Okamura T, Osaki K, et al. A common genetic polymorphism in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level. Blood.1998;6: 2010-2014.","DOI":"10.1182\/blood.V91.6.2010"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/106\/8\/2922\/1635717\/zh802005002920c.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/106\/8\/2922\/1635717\/zh802005002920c.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,12]],"date-time":"2020-02-12T20:22:39Z","timestamp":1581538959000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/106\/8\/2922\/21818\/A-Portuguese-patient-homozygous-for-the-25GgtA"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,15]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2005,10,15]]}},"URL":"https:\/\/doi.org\/10.1182\/blood-2005-04-1630","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,15]]}}}