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Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.

作者信息

Sham Ronald L, Phatak Pradyumna D, Nemeth Elizabeta, Ganz Tomas

出版信息

Blood. 2009 Jul 9;114(2):493-4. doi: 10.1182/blood-2009-04-216226.

DOI:10.1182/blood-2009-04-216226
PMID:19589941
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2714220/
Abstract
摘要

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Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.因对铁调素抵抗导致的遗传性血色素沉着症：一个携带C326S铁转运蛋白突变的家族中铁调素浓度升高。
Blood. 2009 Jul 9;114(2):493-4. doi: 10.1182/blood-2009-04-216226.
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本文引用的文献

1
The molecular basis of hepcidin-resistant hereditary hemochromatosis.铁调素抵抗性遗传性血色素沉着症的分子基础。
Blood. 2009 Jul 9;114(2):437-43. doi: 10.1182/blood-2008-03-146134. Epub 2009 Apr 21.
2
Immunoassay for human serum hepcidin.人血清铁调素免疫测定法。
Blood. 2008 Nov 15;112(10):4292-7. doi: 10.1182/blood-2008-02-139915. Epub 2008 Aug 8.
3
Non-HFE haemochromatosis.非HFE型血色素沉着症
World J Gastroenterol. 2007 Sep 21;13(35):4690-8. doi: 10.3748/wjg.v13.i35.4690.
4
Molecular control of iron transport.铁转运的分子调控
J Am Soc Nephrol. 2007 Feb;18(2):394-400. doi: 10.1681/ASN.2006070802. Epub 2007 Jan 17.
5
The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis.铁输出蛋白铁转运蛋白/溶质载体家族40成员1（Ferroportin/Slc40a1）对铁稳态至关重要。
Cell Metab. 2005 Mar;1(3):191-200. doi: 10.1016/j.cmet.2005.01.003.
6
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin.铁调素抵抗是由铁转运蛋白的血色素沉着症相关突变引起的。
Blood. 2005 Aug 1;106(3):1092-7. doi: 10.1182/blood-2005-02-0561. Epub 2005 Apr 14.
7
Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features.常染色体显性遗传性血色素沉着症与一种新的铁转运蛋白突变及独特临床特征相关。
Blood Cells Mol Dis. 2005 Mar-Apr;34(2):157-61. doi: 10.1016/j.bcmd.2004.12.002.
8
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization.铁调素通过与铁转运蛋白结合并诱导其内化来调节细胞铁外流。
Science. 2004 Dec 17;306(5704):2090-3. doi: 10.1126/science.1104742. Epub 2004 Oct 28.
9
Hepcidin is decreased in TFR2 hemochromatosis.在TFR2型血色素沉着症中，铁调素水平降低。
Blood. 2005 Feb 15;105(4):1803-6. doi: 10.1182/blood-2004-08-3042. Epub 2004 Oct 14.
10
The ferroportin disease.铁转运蛋白病
Blood Cells Mol Dis. 2004 Jan-Feb;32(1):131-8. doi: 10.1016/j.bcmd.2003.08.003.