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Blood, 15 March 2004, Vol. 103, No. 6, pp. 2407-2409. Prepublished online as a Blood First Edition Paper on November 20, 2003; DOI 10.1182/blood-2003-10-3390. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-10-3390v1 103/6/2407    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Roetto, A. Articles by Camaschella, C. Search for Related Content PubMed PubMed Citation Articles by Roetto, A. Articles by Camaschella, C. Related Collections Red Cells Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Brief report Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R) Antonella Roetto, Filomena Daraio, Paolo Porporato, Roberta Caruso, Timothy M. Cox, Mario Cazzola, Paolo Gasparini, Alberto Piperno, and Clara Camaschella From the Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Torino, Italy; Divisione di Ematologia, Instituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Ospedale Pediatrico Bambin Gesù, Roma, Italy; Department of Medicine, University of Cambridge, Cambridge, United Kingdom; Dipartimento di Medicina Interna e Oncologia, IRCCS Policlinico San Matteo, Pavia, Italy; Genetica Medica, Dipartimento di Patologia Generale, II Università di Napoli and Tigem (Telethon Institute of Genetics and Medicine), Napoli, Italy; and Clinica Medica, Azienda Ospedaliera San Gerardo, Monza, Italy. Juvenile or type 2 hemochromatosis (JH) is a genetic disease caused by increased intestinal iron absorption that leads to early massive iron overload. The main form of the disease is caused by mutations in a still unknown gene on chromosome 1q. Recently, we recognized a second type of JH with clinical features identical to the 1q-linked form, caused by mutations in the gene encoding hepcidin (HEPC). Hepcidin is a hepatic antimicrobial-like peptide whose role in iron homeostasis was first defined in animal models; deficiency of hepcidin in mice leads to iron overload, whereas its hepatic overexpression in transgenic animals causes iron deficiency. To define the prevalence of HEPC mutations in JH we screened the HEPC gene for mutation in 21 unrelated JH subjects. We identified a new mutation (C70R), which affects 1 of the 8 conserved cysteines that form the disulfide bonds and are critical for the stability of the polypeptide. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: S. A. Browne and D. Reddan Potential role of bone morphogenetic protein (BMP) signalling as a potential therapeutic target for modification of iron balance Nephrol. Dial. 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Matthes, P. Aguilar-Martinez, L. Pizzi-Bosman, R. Darbellay, L. Rubbia-Brandt, E. Giostra, M. Michel, T. Ganz, and P. Beris Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene Blood, October 1, 2004; 104(7): 2181 - 2183. [Abstract] [Full Text] [PDF] C. Lanzara, A. Roetto, F. Daraio, S. Rivard, R. Ficarella, H. Simard, T. M. Cox, M. Cazzola, A. Piperno, A.-P. Gimenez-Roqueplo, et al. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis Blood, June 1, 2004; 103(11): 4317 - 4321. [Abstract] [Full Text] [PDF]

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