(Q34791748)

4 August 2017

title

Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis (English)

1 reference

4 August 2017

Shunji Tomatsu

1

1 reference

4 August 2017

Koji O Orii

2

1 reference

4 August 2017

Robert E Fleming

3

1 reference

4 August 2017

Christopher C Holden

4

1 reference

4 August 2017

Abdul Waheed

5

1 reference

4 August 2017

Robert S Britton

6

1 reference

4 August 2017

Monica A Gutierrez

7

1 reference

4 August 2017

Susana Velez-Castrillon

8

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4 August 2017

Bruce R Bacon

9

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4 August 2017

William S Sly

10

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4 August 2017

language of work or name

English

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publication date

12 December 2003

1 reference

Proceedings of the National Academy of Sciences of the United States of America

4 August 2017

published in

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4 August 2017

volume

100

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4 August 2017

issue

26

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4 August 2017

page(s)

15788-15793

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Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

The haemochromatosis protein HFE induces an apparent iron-deficient phenotype in H1299 cells that is not corrected by co-expression of beta 2-microglobulin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

The hemochromatosis protein HFE inhibits iron export from macrophages.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

The effects of wild-type and mutant HFE expression upon cellular iron uptake in transfected human embryonic kidney cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

Interactions of the ectodomain of HFE with the transferrin receptor are critical for iron homeostasis in cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

Multicentric origin of hemochromatosis gene (HFE) mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

HFE gene knockout produces mouse model of hereditary hemochromatosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

Global prevalence of putative haemochromatosis mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

Recent advances in gene mutagenesis by site-directed recombination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307646

A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.2237037100

The significance of the 187G (H63D) mutation in hemochromatosis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.2237037100

HFE genotype and transferrin saturation in the United States

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.2237037100

Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States

21 January 2018

1 reference

12 December 2020

Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy

1 reference

12 December 2020

Reference centiles for serum ferritin and percentage of transferrin saturation, with application to mutations of the HFE gene

1 reference

12 December 2020

HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.2237037100

1 reference

4 August 2017

0 references

1 reference

4 August 2017

1 reference