(Q50335666)

English

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

scientific article published on September 1, 2003

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scholarly article

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

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

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

author name string

Gilles Hetet

1

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

Isabelle Devaux

2

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

Nadem Soufir

3

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

Bernard Grandchamp

4

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

Carole Beaumont

5

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

language of work or name

0 references

publication date

1 May 2003

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

1 September 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12730114

30 December 2023

full work available at URL

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

102

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

5

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

1904-1910

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

The ferritins: molecular properties, iron storage function and cellular regulation

1

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress

4

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract

6

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

A new mutation (G51C) in the iron-responsive element (IRE) of l-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins

9

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

12

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

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

13

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

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

15

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

16

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

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

17

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

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

18

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases

19

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

20

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload

21

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

22

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

Translational pathophysiology: a novel molecular mechanism of human disease

23

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome

24

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

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

25

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

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

26

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

The significance of haemochromatosis gene mutations in the general population: implications for screening

27

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin

29

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

Lens changes in hereditary hyperferritinemia-cataract syndrome

30

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

The genetics of cataract: our vision becomes clearer

33

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

Serum ferritin iron, a new test, measures human body iron stores unconfounded by inflammation

34

1 reference

10.1182/BLOOD-2003-02-0439

https://api.crossref.org/works/10.1182/BLOOD-2003-02-0439

30 December 2023

Identifiers

10.1182/BLOOD-2003-02-0439

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/12730114

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