DOI: 10.1016/j.bcmd.2005.04.005. Functional consequences of ferroportin 1 mutations

Functional consequences of ferroportin 1 mutations

10.1016/j.bcmd.2005.04.005

Crossref journal-article

Elsevier BV

Blood Cells, Molecules, and Diseases (78)

Bibliography

Liu, X.-B., Yang, F., & Haile, D. J. (2005). Functional consequences of ferroportin 1 mutations. Blood Cells, Molecules, and Diseases, 35(1), 33â46.

Authors 3

Xiao-Bing Liu (first)
Funmei Yang (additional)
David J. Haile (additional)

References 34 Referenced 105

10.1016/j.bcmd.2004.12.002 / Blood Cells, Mol. Dis. / Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features by Sham (2005)
10.1172/JCI200113468 / J. Clin. Invest. / Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene by Montosi (2001)
10.1038/90038 / Nat. Genet. / A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis by Njajou (2001)
10.1182/blood-2001-11-0132 / Blood / Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3) by Devalia (2002)
10.1046/j.1365-2141.2002.03946.x / Br. J. Haematol. / Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3) by Cazzola (2002)
10.1182/blood-2003-02-0439 / Blood / Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations by Hetet (2003)
10.1182/blood-2002-03-0693 / Blood / A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4 by Roetto (2002)
{'issue': '7', 'key': '10.1016/j.bcmd.2005.04.005_bib8', 'first-page': '824', 'article-title': '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', 'volume': '88', 'author': 'Rivard', 'year': '2003', 'journal-title': 'Haematologica'} / Haematologica / 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 by Rivard (2003)
10.1136/gut.52.8.1215 / Gut / A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient by Arden (2003)
10.1073/pnas.96.19.10812 / Proc. Natl. Acad. Sci. U. S. A. / Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux by Harris (1999)
10.1038/ng1053 / Nat. Genet. / Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis by Roetto (2003)
10.1038/ng1274 / Nat. Genet. / Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis by Papanikolaou (2004)
10.1126/science.1104742 / Science / Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization by Nemeth (2004)
10.1073/pnas.0409409102 / Proc. Natl. Acad. Sci. U. S. A. / Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin by Knutson (2005)
10.1182/blood-2004-11-4502 / Blood / In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations by Schimanski (2005)
10.1182/blood-2004-12-4844 / Blood / Hepcidin in iron overload disorders by Papanikolaou (2005)
10.1074/jbc.M201485200 / J. Biol. Chem. / Regulation of reticuloendothelial iron transporter MTP1 (Slc11a3) by inflammation by Yang (2002)
10.1074/jbc.M000713200 / J. Biol. Chem. / A novel mammalian iron-regulated protein involved in intracellular iron metabolism by Abboud (2000)
10.1006/bcmd.2002.0581 / Blood Cells Mol. Diseases / Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics by Njajou (2002)
10.1038/35001596 / Nature / Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter by Donovan (2000)
10.1016/S1097-2765(00)80425-6 / Mol. Cell / A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation by McKie (2000)
10.1038/41343 / Nature / Cloning and characterization of a mammalian proton-coupled metal-ion transporter by Gunshin (1997)
10.1126/science.1057206 / Science / An iron-regulated ferric reductase associated with the absorption of dietary iron by McKie (2001)
10.1038/5979 / Nat. Genet. / Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse by Vulpe (1999)
10.1016/S1079-9796(03)00164-5 / Blood Cells Mol. Diseases / Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene by Gordeuk (2003)
10.1016/S0168-8278(03)00148-X / J. Hepatol. / Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload by Jouanolle (2003)
10.1016/S1079-9796(03)00165-7 / Blood Cells Mol. Diseases / Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans by Beutler (2003)
10.1056/NEJMra031573 / N. Engl. J. Med. / Hereditary hemochromatosis-a new look at an old disease by Pietrangelo (2004)
10.1006/jmbi.2000.4315 / J. Mol. Biol. / Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes by Krogh (2001)
10.1093/bioinformatics/17.9.849 / Bioinformatics / The HMMTOP transmembrane topology prediction server by Tusnady (2001)
10.1093/bioinformatics/14.4.378 / Bioinformatics / SOSUI: classification and secondary structure prediction system for membrane proteins by Hirokawa (1998)
10.1016/0022-2836(92)90934-C / J. Mol. Biol. / Membrane protein structure prediction. Hydrophobicity analysis and the positive-inside rule by von Heijne (1992)
10.1093/nar/gkh380 / Nucleic Acids Res. / ConPred II: a consensus prediction method for obtaining transmembrane topology models with high reliability by Arai (2004)
10.1021/bi00176a037 / Biochemistry / A model recognition approach to the prediction of all-helical membrane protein structure and topology by Jones (1994)

Dates

Type	When
Created	20 years, 3 months ago (June 2, 2005, 3:35 a.m.)
Deposited	6 years, 7 months ago (Jan. 25, 2019, 6:50 p.m.)
Indexed	4 weeks, 1 day ago (Aug. 6, 2025, 8:50 a.m.)
Issued	20 years, 2 months ago (July 1, 2005)
Published	20 years, 2 months ago (July 1, 2005)
Published Print	20 years, 2 months ago (July 1, 2005)

Funders 0

None

BibTeX

@article{Liu_2005, title={Functional consequences of ferroportin 1 mutations}, volume={35}, ISSN={1079-9796}, url={http://dx.doi.org/10.1016/j.bcmd.2005.04.005}, DOI={10.1016/j.bcmd.2005.04.005}, number={1}, journal={Blood Cells, Molecules, and Diseases}, publisher={Elsevier BV}, author={Liu, Xiao-Bing and Yang, Funmei and Haile, David J.}, year={2005}, month=jul, pages={33–46} }

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