(Q36103131)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

review article

1 reference

title

The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

author name string

Patricia Aguilar-Martinez

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Pierre Brissot

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

language of work or name

English

0 references

publication date

1 May 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

The American Journal of Gastroenterology

11 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

volume

100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

page(s)

1185-1194

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

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

11 January 2020

cites work

1 reference

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Hereditary hemochromatosis--a new look at an old disease

21 January 2018

1 reference

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Non-invasive assessment of hepatic iron stores by MRI.

21 January 2018

1 reference

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EASL International Consensus Conference on Haemochromatosis

21 January 2018

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Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Haemochromatosis and HLA-H.

21 January 2018

1 reference

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High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression.

21 January 2018

1 reference

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Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

21 January 2018

1 reference

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Intestinal absorption of iron in HFE-1 hemochromatosis: local or systemic process?

21 January 2018

1 reference

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A population-based study of the clinical expression of the hemochromatosis gene

21 January 2018

1 reference

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The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis

21 January 2018

1 reference

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Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

21 January 2018

1 reference

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Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload

21 January 2018

1 reference

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Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Clinical and biochemical abnormalities in people heterozygous for hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis

21 January 2018

1 reference

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Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family

21 January 2018

1 reference

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Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

The orchestration of body iron intake: how and where do enterocytes receive their cues?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Juvenile hemochromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

21 January 2018

The ferroportin disease

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Genotypic and phenotypic heterogeneity of African Americans with primary iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

Scanning mutations of the 5'UTR regulatory sequence of l-ferritin by denaturing high-performance liquid chromatography: identification of new mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.40998.X

10.1111/J.1572-0241.2005.40998.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15842597%20AND%20SRC:MED&resulttype=core&format=json

release_zl6aowk6jvc3tma45taurxh2vu

11 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zl6aowk6jvc3tma45taurxh2vu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference