Ferroportin diseases: functional studies, a link between genetic and clinical phenotype. (Q47783604)

5 February 2018

title

Ferroportin diseases: functional studies, a link between genetic and clinical phenotype. (English)

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5 February 2018

author

Edouard Bardou-Jacquet

5

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5 February 2018

author name string

Lénaïck Détivaud

1

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5 February 2018

Marie-Laure Island

2

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5 February 2018

Anne-Marie Jouanolle

3

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5 February 2018

Martine Ropert

4

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5 February 2018

Caroline Le Lan

6

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5 February 2018

Annick Mosser

7

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5 February 2018

Patricia Leroyer

8

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5 February 2018

Yves Deugnier

9

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5 February 2018

Véronique David

10

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5 February 2018

Pierre Brissot

11

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5 February 2018

Olivier Loréal

12

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publication date

11 September 2013

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5 February 2018

published in

Human Mutation

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5 February 2018

volume

34

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5 February 2018

page(s)

1529-1536

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issue

11

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5 February 2018

A novel mammalian iron-regulated protein involved in intracellular iron metabolism

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1 reference

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Hepcidin and iron-related gene expression in subjects with Dysmetabolic Hepatic Iron Overload

21 January 2018

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Iron disorders of genetic origin: a changing world

21 January 2018

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Ferroportin-mediated mobilization of ferritin iron precedes ferritin degradation by the proteasome

21 January 2018

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The molecular mechanism of hepcidin-mediated ferroportin down-regulation

21 January 2018

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Hepcidin levels in humans are correlated with hepatic iron stores, hemoglobin levels, and hepatic function

21 January 2018

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Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

21 January 2018

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

21 January 2018

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Iron sensing and signalling

21 January 2018

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LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity

21 January 2018

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Functional consequences of ferroportin 1 mutations

21 January 2018

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Ferroportin disease: a systematic meta-analysis of clinical and molecular findings

21 January 2018

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A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation

21 January 2018

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A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis.

21 January 2018

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

21 January 2018

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

21 January 2018

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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

21 January 2018

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Iron metabolism and the IRE/IRP regulatory system: an update

21 January 2018

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Hepcidin, a urinary antimicrobial peptide synthesized in the liver

21 January 2018

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Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload.

21 January 2018

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Non-HFE hepatic iron overload

21 January 2018

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

21 January 2018

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Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter

21 January 2018

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Iron absorption in dysmetabolic iron overload syndrome is decreased and correlates with increased plasma hepcidin.

21 January 2018

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

21 January 2018

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NIH Image to ImageJ: 25 years of image analysis

21 January 2018

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

21 January 2018

1 reference

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Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload

21 January 2018

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Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain

21 January 2018

1 reference

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7 January 2021

Global sequencing approach for characterizing the molecular background of hereditary iron disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22396

7 January 2021

Sex and acquired cofactors determine phenotypes of ferroportin disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22396

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22396

7 January 2021

Hepcidin is down-regulated in alcohol loading

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7 January 2021

Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22396

1 reference

5 February 2018

release_efnezqmrcngwvinufa6emsscfe

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/efnezqmrcngwvinufa6emsscfe

24 November 2022

mapped directly with Wikidata item

PubMed ID

23943237

1 reference

5 February 2018