Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A &gt; G variant. (Q33767088)

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17 January 2020

title

Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant (English)

1 reference

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17 January 2020

author

Arturo Gonzalez-Quintela

2

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17 January 2020

Fernando Dominguez

5

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17 January 2020

author name string

Silvia Parajes

1

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17 January 2020

Joaquín Campos

3

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17 January 2020

Celsa Quinteiro

4

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17 January 2020

Lourdes Loidi

6

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17 January 2020

publication date

10 December 2010

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17 January 2020

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17 January 2020

volume

11

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17 January 2020

page(s)

110

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https://scigraph.springernature.com/pub.10.1186/1471-2156-11-110

17 January 2020

exact match

0 references

cites work

The -582A>G variant of the HAMP promoter is not associated with high serum ferritin levels in normal subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.

22 June 2018

1 reference

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HAMP promoter mutation nc.-153C>T in 785 HEIRS study participants.

22 June 2018

1 reference

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Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major

22 June 2018

1 reference

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A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

The regulation of hepcidin and its effects on systemic and cellular iron metabolism.

22 June 2018

1 reference

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The serine protease TMPRSS6 is required to sense iron deficiency

22 June 2018

1 reference

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The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression

22 June 2018

1 reference

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Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance

22 June 2018

1 reference

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Regulation of iron homeostasis by the hypoxia-inducible transcription factors (HIFs).

22 June 2018

1 reference

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Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera.

22 June 2018

1 reference

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Cis and trans regulation of hepcidin expression by upstream stimulatory factor

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

Interleukin-6 induces hepcidin expression through STAT3

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression

22 June 2018

1 reference

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Orchestration of iron homeostasis

22 June 2018

1 reference

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Hepcidin--a regulator of intestinal iron absorption and iron recycling by macrophages

22 June 2018

1 reference

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Anemia of inflammation: the hepcidin link

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

Hepcidin, the recently identified peptide that appears to regulate iron absorption

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

Hepcidin, a urinary antimicrobial peptide synthesized in the liver

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

Gene by environment interaction: the -159C/T polymorphism in the promoter region of the CD14 gene modifies the effect of alcohol consumption on serum IgE levels

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3004809

Upregulation of hepcidin by interleukin-1beta in human hepatoma cell lines

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21143959

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2156-11-110

1 reference

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Dimensions Publication ID

17 January 2020

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2156-11-110

9 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21143959%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference