(Q48693755)

14 February 2018

title

The discovery of the new haemochromatosis gene. 1996. (English)

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14 February 2018

author name string

J N Feder

1

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14 February 2018

A Gnirke

2

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14 February 2018

W Thomas

3

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14 February 2018

Z Tsuchihashi

4

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14 February 2018

D A Ruddy

5

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14 February 2018

A Basava

6

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14 February 2018

publication date

1 June 2003

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14 February 2018

published in

Journal of Hepatology

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14 February 2018

volume

38

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14 February 2018

issue

6

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14 February 2018

page(s)

704-709

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14 February 2018

Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis

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7 January 2021

Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing

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7 January 2021

Putting a hold on "HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System

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7 January 2021

Hemochromatosis gene nomenclature

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https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

The genetics of haemochromatosis

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https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Localization of the hemochromatosis disease gene: linkage disequilibrium analysis using an American patient collection

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE).

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

HFE gene knockout produces mouse model of hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

1 reference

7 January 2021

Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Expression of the DMT1 (NRAMP2/DCT1) iron transporter in mice with genetic iron overload disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Regulation of iron absorption in Hfe mutant mice

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Genes that modify the hemochromatosis phenotype in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Inactivation of the hemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Increased hepatic iron in mice lacking classical MHC class I molecules

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

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

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

C/EBPalpha regulates hepatic transcription of hepcidin, an antimicrobial peptide and regulator of iron metabolism. Cross-talk between C/EBP pathway and iron metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

HFE based re-evaluation of heterozygous hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Hereditary hemochromatosis: the clinical significance of the S65C mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Juvenile hemochromatosis locus maps to chromosome 1q.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada)

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2803%2900142-9

7 January 2021

10.1016/S0168-8278(03)00142-9

Identifiers

DOI

1 reference

14 February 2018

1 reference

14 February 2018