The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
The ferroportin disease
Open accessAbstract
A new inherited disorder of iron metabolism, hereafter called "the ferroportin disease," is increasingly recognized worldwide. The disorder is due to pathogenic mutations in the SLC40A1 gene encoding for a main iron export protein in mammals, ferroportin1/IREG1/MTP1, and it was originally identified as an autosomal-dominant form of iron overload not linked to the hemochromatosis (HFE) gene. It has distinctive clinical features such as early increase in serum ferritin in spite of low-normal transferrin saturation, progressive iron accumulation in organs, predominantly in reticuloendothelial macrophages, marginal anemia with low tolerance to phlebotomy. Ferroportin mutations have been reported in many countries regardless of ethnicity. They may lead to a loss of protein function responsible for reduced iron export from cells, particularly reticuloendothelial cells. Now, the disorder appears to be the most common cause of hereditary iron overload beyond HFE hemochromatosis.
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Cites
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
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Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
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Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene
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Self-citationA mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
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Cited by
Ganz, T., & Nemeth, E. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2012.01.014 · Cited by 1,282
The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis
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Ganz, T. (2013) · Physiological Reviews · doi:10.1152/physrev.00008.2013 · Cited by 1,122
Hepcidin and iron regulation, 10 years later
Ganz, T. (2011) · Blood · doi:10.1182/blood-2011-01-258467 · Cited by 962
Drakesmith, H., Nemeth, E., & Ganz, T. (2015) · Cell Metabolism · doi:10.1016/j.cmet.2015.09.006 · Cited by 638
Metadata
- Authors
- Pietrangelo, A.
- Venue
- Blood Cells, Molecules, and Diseases
- Publisher
- Elsevier BV
- Published
- 2004-01
- Volume
- 32
- Issue
- 1
- Pages
- 131-138
- ISSN
- 1079-9796 (ISSN-L)
- OpenAlex
- W2041715899
- Cited by
- 383
- References
- 11
- FWCI
- 13.24
- Type
- journal article
- Language
- en
- Open access
- green
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