The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data. (Q31030085)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26633544%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data (English)

1 reference

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1 March 2020

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26633544%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Nathan V Subramaniam

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26633544%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

2

V Nathan Subramaniam

1 reference

28 June 2017

Daniel F Wallace

1

1 reference

28 June 2017

language of work or name

English

0 references

publication date

3 December 2015

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1 March 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26633544%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

18

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1 March 2020

page(s)

618-626

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1 March 2020

issue

6

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Molecular basis of iron-loading disorders.

1 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.140

21 January 2018

Non-HFE haemochromatosis

1 reference

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

21 January 2018

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A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation?

21 January 2018

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Global prevalence of putative haemochromatosis mutations

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.140

Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.140

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

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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

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

21 January 2018

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Ferroportin disease: a systematic meta-analysis of clinical and molecular findings

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A map of human genome variation from population-scale sequencing

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Hemochromatosis and iron-overload screening in a racially diverse population.

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Iron-overload-related disease in HFE hereditary hemochromatosis

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Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.

21 January 2018

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

21 January 2018

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Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload

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Mild iron overload in an African American man with SLC40A1 D270V.

21 January 2018

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Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter

21 January 2018

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Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.

21 January 2018

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Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

21 January 2018

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Genetic and clinical heterogeneity of ferroportin disease.

21 January 2018

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SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype.

21 January 2018

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Iron chelation with deferasirox in a patient with de-novo ferroportin mutation.

21 January 2018

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Performance comparison of whole-genome sequencing platforms

21 January 2018

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

21 January 2018

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Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

21 January 2018

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

21 January 2018

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Hemochromatosis gene (HFE) polymorphisms and risk of type 2 diabetes mellitus: a meta-analysis.

21 January 2018

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Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain

21 January 2018

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12 December 2020

Population screening for hemochromatosis: a study in 5370 Spanish blood donors.

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12 December 2020

The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis

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12 December 2020

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data

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12 December 2020

Sex and acquired cofactors determine phenotypes of ferroportin disease

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12 December 2020

Global sequencing approach for characterizing the molecular background of hereditary iron disorders

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12 December 2020

Molecular medicine and hemochromatosis: at the crossroads

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12 December 2020

Heterogeneity of hemochromatosis in Italy

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12 December 2020

Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients

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12 December 2020