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Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy.

作者信息

Womack Jihad, Sukumaran Abitha, Li Xiuqi, Lozovatsky Larisa, Gallagher Patrick G, Seid Jerome E, Finberg Karin E

机构信息

Department of Pathology, Yale School of Medicine, 310 Cedar Street, PO Box 208023, New Haven, CT 06520-8023, USA.

Department of Pathology, Yale School of Medicine, 310 Cedar Street, PO Box 208023, New Haven, CT 06520-8023, USA; Departments of Pediatrics and Genetics, Yale School of Medicine, 333 Cedar St., PO Box 208064, New Haven, CT 06520-8064, USA.

出版信息

Blood Cells Mol Dis. 2021 Mar;87:102532. doi: 10.1016/j.bcmd.2020.102532. Epub 2020 Dec 24.

DOI:10.1016/j.bcmd.2020.102532
PMID:33385755
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8272917/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7087/8272917/038e8dc71d67/nihms-1716601-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7087/8272917/038e8dc71d67/nihms-1716601-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7087/8272917/038e8dc71d67/nihms-1716601-f0001.jpg

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本文引用的文献

1
Structure of hepcidin-bound ferroportin reveals iron homeostatic mechanisms.亚铁转运蛋白结合血红素肽的结构揭示了铁稳态的机制。
Nature. 2020 Oct;586(7831):807-811. doi: 10.1038/s41586-020-2668-z. Epub 2020 Aug 19.
2
Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.铁转运蛋白病二十年：已发表的临床、生化、分子及功能特征综述或更新
Pharmaceuticals (Basel). 2019 Sep 9;12(3):132. doi: 10.3390/ph12030132.
3
Ironing out Ferroportin.解决铁转运蛋白问题
Cell Metab. 2015 Nov 3;22(5):777-87. doi: 10.1016/j.cmet.2015.09.006. Epub 2015 Oct 1.
4
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.对疑似4型血色素沉着症患者中发现的18种错义突变进行全面功能注释。
Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8.
5
Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.铁蛋白病：功能研究，遗传与临床表型之间的联系。
Hum Mutat. 2013 Nov;34(11):1529-36. doi: 10.1002/humu.22396. Epub 2013 Sep 11.
6
Sex and acquired cofactors determine phenotypes of ferroportin disease.性别和后天因素决定铁蛋白病的表型。
Gastroenterology. 2011 Apr;140(4):1199-1207.e1-2. doi: 10.1053/j.gastro.2010.12.049. Epub 2011 Jan 1.
7
Global sequencing approach for characterizing the molecular background of hereditary iron disorders.用于表征遗传性铁紊乱分子背景的全局测序方法。
Clin Chem. 2007 Dec;53(12):2060-9. doi: 10.1373/clinchem.2007.090605. Epub 2007 Oct 19.
8
Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain.西班牙发现与两种新的铁转运蛋白1突变相关的常染色体显性遗传性血色素沉着症。
Blood Cells Mol Dis. 2006 Jan-Feb;36(1):41-5. doi: 10.1016/j.bcmd.2005.09.001. Epub 2005 Oct 27.