Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations. (Q38098239)

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28 February 2020

title

Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations (English)

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1

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28 February 2020

Daniel F. Wallace

series ordinal

2

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28 February 2020

Nathan V Subramaniam

series ordinal

4

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3

Darrell H G Crawford

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28 February 2020

publication date

1 July 2013

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Journal of Gastroenterology and Hepatology

28 February 2020

published in

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volume

28

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issue

7

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28 February 2020

page(s)

1087-1094

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A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

28 February 2020

cites work

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21 January 2018

Non-HFE haemochromatosis

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Global prevalence of putative haemochromatosis mutations

21 January 2018

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Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

21 January 2018

1 reference

A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload

21 January 2018

1 reference

Hepcidin and iron regulation, 10 years later

21 January 2018

1 reference

Uncommon mutations and polymorphisms in the hemochromatosis gene

21 January 2018

1 reference

Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE.

21 January 2018

1 reference

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes

21 January 2018

1 reference

A novel Y231del mutation of HFE in hereditary haemochromatosis provides in vivo evidence that the Huh-7 is a human haemochromatotic cell line

21 January 2018

1 reference

Huh-7: a human "hemochromatotic" cell line.

21 January 2018

1 reference

Prevalence of HFE mutations among the Thai population and correlation with iron loading in haemoglobin E disorder

21 January 2018

1 reference

Natural history of juvenile haemochromatosis

21 January 2018

1 reference

Juvenile hemochromatosis locus maps to chromosome 1q.

21 January 2018

1 reference

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

21 January 2018

1 reference

Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression

21 January 2018

1 reference

Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6

21 January 2018

1 reference

Iron overload in the Asian community.

21 January 2018

1 reference

Identification of a novel mutation (C321X) in HJV.

21 January 2018

1 reference

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

21 January 2018

1 reference

A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.

21 January 2018

1 reference

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

21 January 2018

1 reference

Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo

21 January 2018

1 reference

Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing

21 January 2018

1 reference

Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression

21 January 2018

1 reference

The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation

21 January 2018

1 reference

Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload.

21 January 2018

1 reference

Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2.

21 January 2018

1 reference

Hepcidin is decreased in TFR2 hemochromatosis

21 January 2018

1 reference

Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent

21 January 2018

1 reference

A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.

21 January 2018

1 reference

Genetic background of primary iron overload syndromes in Japan

21 January 2018

1 reference

Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype.

21 January 2018

1 reference

Functional consequences of ferroportin 1 mutations

21 January 2018

1 reference

In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations

21 January 2018

1 reference

Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin

21 January 2018

1 reference

A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient

21 January 2018

1 reference

Ferroportin disease due to the A77D mutation in Australia.

21 January 2018

1 reference

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

21 January 2018

1 reference

Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis.

21 January 2018

1 reference

Identification of ferroportin disease in the Indian subcontinent.

21 January 2018

1 reference

Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent.

21 January 2018

1 reference

G80S-linked ferroportin disease: classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective

21 January 2018

1 reference

Genetic and clinical heterogeneity of ferroportin disease.

21 January 2018

1 reference

Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload

21 January 2018

1 reference

The molecular basis of hepcidin-resistant hereditary hemochromatosis

21 January 2018

1 reference

Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene

21 January 2018

1 reference

A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/JGH.12222

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28 February 2020

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