Molecular diagnostic and pathogenesis of hereditary hemochromatosis (Q37992618)

26 August 2017

13 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

20 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

29 August 2020

27 September 2020

2 November 2020

Molecular diagnostic and pathogenesis of hereditary hemochromatosis (English)

1 reference

HFE hereditary haemochromatosis

26 August 2017

0 references

13 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

20 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

29 August 2020

27 September 2020

2 November 2020

0 references

cell surface receptor

1 reference

31 July 2019

1 reference

14 September 2019

1 reference

28 November 2019

iron-responsive element-binding protein

1 reference

15 December 2019

1 reference

15 December 2019

1 reference

29 August 2020

antimicrobial cationic peptides

1 reference

27 September 2020

1 reference

2 November 2020

2

1 reference

26 August 2017

Paulo C J L Santos

1

1 reference

PMCID

3291973

26 August 2017

Alexandre C Pereira

series ordinal

3

1 reference

PMCID

3291973

26 August 2017

language of work or name

English

0 references

publication date

1 February 2012

14 references

International Journal of Molecular Sciences

26 August 2017

14 March 2019

21 March 2019

24 March 2019

22 April 2019

20 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

29 August 2020

27 September 2020

2 November 2020

14 references

26 August 2017

14 March 2019

21 March 2019

24 March 2019

22 April 2019

20 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

29 August 2020

27 September 2020

2 November 2020

13

1 reference

26 August 2017

2

1 reference

26 August 2017

1497-1511

1 reference

Creative Commons Attribution 3.0 Unported

26 August 2017

13 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

20 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

29 August 2020

27 September 2020

on focus list of Wikimedia project

2 November 2020

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

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1 reference

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Hereditary hemochromatosis: laboratory evaluation

6 September 2017

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Diagnosis and management of hereditary haemochromatosis

6 September 2017

1 reference

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The molecular basis of iron overload disorders and iron-linked anemias

6 September 2017

1 reference

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Hepcidin in human iron disorders: therapeutic implications.

6 September 2017

1 reference

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HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?

6 September 2017

1 reference

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A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis

6 September 2017

1 reference

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

6 September 2017

1 reference

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Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment

6 September 2017

1 reference

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The role of hepcidin in iron metabolism

6 September 2017

1 reference

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Bone morphogenetic protein signaling is impaired in an HFE knockout mouse model of hemochromatosis

6 September 2017

1 reference

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Regulation of hepcidin and iron-overload disease

6 September 2017

1 reference

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Hemojuvelin: the hepcidin story continues

6 September 2017

1 reference

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Lack of the bone morphogenetic protein BMP6 induces massive iron overload

6 September 2017

1 reference

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Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes

6 September 2017

1 reference

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Current approach to hemochromatosis

6 September 2017

1 reference

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HFE association with transferrin receptor 2 increases cellular uptake of transferrin-bound iron

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

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

6 September 2017

1 reference

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Current approaches to the management of hemochromatosis

6 September 2017

1 reference

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Hereditary hemochromatosis: genetic complexity and new diagnostic approaches

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression

6 September 2017

1 reference

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Molecular insights into the pathogenesis of hereditary haemochromatosis

6 September 2017

1 reference

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Hemochromatosis: genetics and pathophysiology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

A mouse model of juvenile hemochromatosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Competitive regulation of hepcidin mRNA by soluble and cell-associated hemojuvelin

6 September 2017

1 reference

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First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin.

6 September 2017

1 reference

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The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities.

6 September 2017

1 reference

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In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Hepcidin in iron overload disorders

6 September 2017

1 reference

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

6 September 2017

1 reference

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Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

6 September 2017

1 reference

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The clinical relevance of new insights in iron transport and metabolism.

6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Hemochromatosis: diagnosis and management

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Nonexpressing homozygotes for C282Y hemochromatosis: minority or majority of cases?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

A novel mammalian iron-regulated protein involved in intracellular iron metabolism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Global prevalence of putative haemochromatosis mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMAD.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

HJV hemochromatosis, iron overload, and hypogonadism in a Brazilian man: treatment with phlebotomy and deferasirox.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Advantage of high-resolution melting curve analysis over conformation-sensitive gel electrophoresis for mutational screening of BRCA1 and BRCA2 genes.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

EASL clinical practice guidelines for HFE hemochromatosis

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Rare types of genetic hemochromatosis.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Iron deficiency and frequency of HFE C282Y gene mutation in Brazilian blood donors

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

BMP/Smad signaling is not enhanced in Hfe-deficient mice despite increased Bmp6 expression.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Homozygous deletion of HFE: the Sardinian hemochromatosis?

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Iron overload in the Asian community.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

HFE modulates transferrin receptor 2 levels in hepatoma cells via interactions that differ from transferrin receptor 1-HFE interactions.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Genetic and clinical heterogeneity of ferroportin disease.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Effect of ferroportin Q248H polymorphism on iron status in African children

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Hepcidin is decreased in TFR2 hemochromatosis

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291973

An unusual melting curve profile in LightCycler multiplex genotyping of the hemochromatosis H63D/C282Y gene mutations

31 August 2018

1 reference

12 December 2020

Decreased liver hepcidin expression in the Hfe knockout mouse

1 reference

12 December 2020

Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele

1 reference

12 December 2020

Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population

1 reference

12 December 2020

HJV gene mutations in European patients with juvenile hemochromatosis

1 reference

12 December 2020

A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron

1 reference

12 December 2020

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload

1 reference

12 December 2020

An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1

1 reference

12 December 2020

HFE-associated hereditary hemochromatosis

1 reference

12 December 2020

HFE gene mutations and iron status of Brazilian blood donors

1 reference

12 December 2020

High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.

1 reference

12 December 2020

Identifiers

DOI

10.3390/IJMS13021497

1 reference

26 August 2017

1 reference

26 August 2017

1 reference

PMCID

3291973