HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis (Q35361480)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10986220%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis (English)

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10 November 2019

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2

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10 November 2019

author name string

S Distante

1

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10 November 2019

K Lande

3

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10 November 2019

E Haug

4

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10 November 2019

H Bell

5

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10 November 2019

language of work or name

English

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publication date

1 October 2000

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10 November 2019

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10 November 2019

volume

47

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10 November 2019

page(s)

575-579

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10 November 2019

issue

4

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

10 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

Global prevalence of putative haemochromatosis mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

Prevalence of hereditary haemochromatosis in two Swedish urban areas

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

Twenty-four hour variation of transferrin saturation in treated and untreated haemochromatosis homozygotes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

Cost-effectiveness of screening for hereditary hemochromatosis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728064

Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis

26 September 2018

1 reference

12 December 2020

Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in hemochromatosis

1 reference

12 December 2020

Haemochromatosis gene C282Y homozygotes in an elderly male population

1 reference

12 December 2020

Screening for iron overload using transferrin saturation

1 reference

12 December 2020

Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis

1 reference

12 December 2020

Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors

1 reference

12 December 2020

Decreased concentrations of tumor necrosis factor-alpha in supernatants of monocytes from homozygotes for hereditary hemochromatosis

1 reference

12 December 2020

Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database

1 reference

12 December 2020

Long-term survival in patients with hereditary hemochromatosis

1 reference

12 December 2020

Haemochromatosis and HLA-H

1 reference

12 December 2020

Prevalence of hemochromatosis among first-time and repeat blood donors in Norway

1 reference

12 December 2020

Neonatal screening for the hemochromatosis defect

1 reference

12 December 2020

Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis

1 reference

12 December 2020

Response of monocyte iron regulatory protein activity to inflammation: abnormal behavior in genetic hemochromatosis

1 reference

12 December 2020

HFEmutations in patients with hereditary haemochromatosis in Sweden

1 reference

12 December 2020

A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.47.4.575

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10986220%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10986220%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference