(Q56491216)

1

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Ian McFarlane

2

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Igor Theurl

3

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Sylvia Stadlmann

4

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Elizabeta Nemeth

5

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David Oxley

6

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David J. Halsall

8

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Timothy M. Cox

9

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Wolfgang Vogel

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

10

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language of work or name

English

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publication date

2005

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published in

Hepatology

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volume

42

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page(s)

466-472

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issue

2

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cites work

1 reference

7 January 2021

Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene

1 reference

7 January 2021

A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4

1 reference

7 January 2021

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations

1 reference

7 January 2021

Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).

1 reference

7 January 2021

Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)

1 reference

7 January 2021

Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene

1 reference

7 January 2021

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

1 reference

7 January 2021

The SLC40 basolateral iron transporter family (IREG1/ferroportin/MTP1)

1 reference

7 January 2021

Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding

1 reference

7 January 2021

Pathogenesis and treatment of anaemia of chronic disease

1 reference

7 January 2021

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

1 reference

7 January 2021

The iron-regulatory peptide hormone hepcidin: expression and cellular localization in the mammalian kidney

1 reference

7 January 2021

Hepcidin excess induces the sequestration of iron and exacerbates tumor-associated anemia

1 reference

7 January 2021

Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein

1 reference

7 January 2021

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

1 reference

7 January 2021

Hepcidin in iron metabolism

1 reference

7 January 2021

Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)

1 reference

7 January 2021

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

1 reference

7 January 2021

Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene.

1 reference

7 January 2021

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

1 reference

7 January 2021

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

1 reference

7 January 2021

Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis.

1 reference

7 January 2021

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

1 reference

7 January 2021

Hepcidin is decreased in TFR2 hemochromatosis

1 reference

7 January 2021

Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes).

1 reference

7 January 2021

Pro-hepcidin: expression and cell specific localisation in the liver and its regulation in hereditary haemochromatosis, chronic renal insufficiency, and renal anaemia

1 reference

7 January 2021

Hepcidin in iron overload disorders

1 reference

7 January 2021

Hereditary hemochromatosis--a new look at an old disease

1 reference

7 January 2021

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

1 reference

7 January 2021

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

1 reference

7 January 2021

Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics

1 reference

7 January 2021

The ferroportin disease

1 reference

7 January 2021

Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice.

1 reference

7 January 2021

Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease

1 reference

7 January 2021