Literature DB >> 12857562

Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.

Sylvain R Rivard, Carmela Lanzara, Doria Grimard, Massimo Carella, Hervey Simard, Romina Ficarella, Raynald Simard, Adamo Pio D'Adamo, Marc De Braekeleer, Paolo Gasparini.   

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Year:  2003        PMID： 12857562

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  14 in total

1.  Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders.

Authors:  Yoshibumi Kaneko; Hiroaki Miyajima; Alberto Piperno; Naohisa Tomosugi; Hisao Hayashi; Natsuko Morotomi; Ken-ichi Tsuchida; Takaaki Ikeda; Akihisa Ishikawa; Yusuke Ota; Shinya Wakusawa; Kentaro Yoshioka; Satoshi Kono; Sara Pelucchi; Ai Hattori; Yasuaki Tatsumi; Toshihide Okada; Masakazu Yamagishi
Journal:  J Gastroenterol       Date:  2010-06-09       Impact factor: 7.527

2.  Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.

Authors:  Sharraya Aschemeyer; Bo Qiao; Deborah Stefanova; Erika V Valore; Albert C Sek; T Alex Ruwe; Kyle R Vieth; Grace Jung; Carla Casu; Stefano Rivella; Mika Jormakka; Bryan Mackenzie; Tomas Ganz; Elizabeta Nemeth
Journal:  Blood       Date:  2017-12-13       Impact factor: 22.113

3.  Wild-type and mutant ferroportins do not form oligomers in transfected cells.

Authors:  Ana Sofia Gonçalves; Françoise Muzeau; Rand Blaybel; Gilles Hetet; Fathi Driss; Constance Delaby; François Canonne-Hergaux; Carole Beaumont
Journal:  Biochem J       Date:  2006-06-01       Impact factor: 3.857

Review 4.  Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.

Authors:  James E Nelson; Kris V Kowdley
Journal:  Curr Gastroenterol Rep       Date:  2005-02

5.  Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.

Authors:  Monique G Zaahl; Alison T Merryweather-Clarke; Maritha J Kotze; Schalk van der Merwe; Louise Warnich; Kathryn J H Robson
Journal:  Hum Genet       Date:  2004-08-24       Impact factor: 4.132

6.  The molecular basis of hepcidin-resistant hereditary hemochromatosis.

Authors:  Augustine Fernandes; Gloria C Preza; Yen Phung; Ivana De Domenico; Jerry Kaplan; Tomas Ganz; Elizabeta Nemeth
Journal:  Blood       Date:  2009-04-21       Impact factor: 22.113

Review 7.  Non-HFE haemochromatosis.

Authors:  Daniel-F Wallace; V-Nathan Subramaniam
Journal:  World J Gastroenterol       Date:  2007-09-21       Impact factor: 5.742

Review 8.  Recent advances in understanding haemochromatosis: a transition state.

Authors:  K J H Robson; A T Merryweather-Clarke; E Cadet; V Viprakasit; M G Zaahl; J J Pointon; D J Weatherall; J Rochette
Journal:  J Med Genet       Date:  2004-10       Impact factor: 6.318

9.  Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter.

Authors:  Adrian E Rice; Michael J Mendez; Craig A Hokanson; Douglas C Rees; Pamela J Björkman
Journal:  J Mol Biol       Date:  2009-01-03       Impact factor: 5.469

10.  Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

Authors:  Roman Mayr; Andreas R Janecke; Melanie Schranz; William J H Griffiths; Wolfgang Vogel; Antonello Pietrangelo; Heinz Zoller
Journal:  J Hepatol       Date:  2010-07-17       Impact factor: 25.083
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