(Q36073089)

12 August 2017

1 reference

title

Iron storage disease: facts, fiction and progress (English)

1 reference

12 August 2017

Ernest Beutler

1

1 reference

PMC publication ID

2030637

12 August 2017

language of work or name

1 reference

31 May 2007

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Blood Cells, Molecules and Diseases

12 August 2017

1 reference

12 August 2017

39

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12 August 2017

2

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12 August 2017

140-147

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RADIOACTIVE IRON ABSORPTION BY GASTRO-INTESTINAL TRACT : INFLUENCE OF ANEMIA, ANOXIA, AND ANTECEDENT FEEDING DISTRIBUTION IN GROWING DOGS

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Evidence that inhibition of hemojuvelin shedding in response to iron is mediated through neogenin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Regulation of iron metabolism by hepcidin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: new data, new questions

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Prognostic factors and survival in patients with hereditary hemochromatosis and cirrhosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Diet and genetic factors associated with iron status in middle-aged women

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Hepatocellular carcinoma and the penetrance of HFE C282Y mutations: a cross sectional study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

The penetrance of hereditary hemochromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Iron-deficiency anemia and Helicobacter pylori infection: a review of the evidence

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

The IL-6- and lipopolysaccharide-induced transcription of hepcidin in HFE-, transferrin receptor 2-, and beta 2-microglobulin-deficient hepatocytes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

History of iron in medicine

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Haptoglobin polymorphism and body iron stores

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Discrepancies between genotype and phenotype in hematology: an important frontier

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Population screening for HFE-associated haemochromatosis: should we have to pay for our genes?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Increased cancer risk in a cohort of 230 patients with hereditary hemochromatosis in comparison to matched control patients with non-iron-related chronic liver disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

EASL International Consensus Conference on Haemochromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Hepatocellular carcinoma arising in non-cirrhotic liver in genetic haemochromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Idiopathic hemochromatosis, an interim report.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Long term results of venesection therapy in idiopathic haemochromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Clinic and therapy of idiopathic hemochromatosis. Report of 51 cases (author's transl)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Screening for hereditary haemochromatosis should be implemented now.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Primary hepatocellular carcinoma in idiopathic hemochromatosis after reversal of cirrhosis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Effects of alcohol consumption on iron metabolism in mice with hemochromatosis mutations.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Helicobacter pylori infection and HFE hemochromatosis.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Screening for hemochromatosis in asymptomatic subjects with or without a family history

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

HFE genotypes and dietary heme iron: no evidence of strong gene-nutrient interaction on serum ferritin concentrations in middle-aged women

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Hepcidin is decreased in TFR2 hemochromatosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Hemochromatosis mutations in the general population: iron overload progression rate

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Natural history of hemochromatosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Serum Ferritin Level Predicts Advanced Hepatic Fibrosis among U.S. Patients with Phenotypic Hemochromatosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Penetrance of hemochromatosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Hepatoma in a 40-year old male with hereditary hemochromatosis in the absence of cirrhosis. Implications of molecular diagnosis.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Polymorphisms in the transferrin 5' flanking region associated with differences in total iron binding capacity: possible implications in iron homeostasis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2030637

Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype

23 September 2018

1 reference

12 December 2020

Tumour Necrosis Factor Alpha and Its Promoter Polymorphisms' Role in the Phenotypic Expression of Hemochromatosis

1 reference

12 December 2020

Retrotransposons as epigenetic mediators of phenotypic variation in mammals

1 reference

12 December 2020

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype

1 reference

12 December 2020

Soluble transferrin receptor-1 levels in mice do not affect iron absorption

1 reference

12 December 2020

Noninvasive prediction of fibrosis in C282Y homozygous 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

Letter: Idiopathic hemochromatosis associated with HL-A 3 tissular antigen

1 reference

12 December 2020

The reversal of hemochromatotic cirrhosis by multiple phlebotomies. Report of a case

1 reference

12 December 2020

Concordance of iron indices in homozygote and heterozygote sibling pairs in hemochromatosis families: implications for family screening

1 reference

12 December 2020

Haptoglobin polymorphism and iron homeostasis

1 reference

12 December 2020

The effect of repeated phlebotomies in hemochromatosis; report of three cases

1 reference

12 December 2020

Long-term survival in patients with hereditary hemochromatosis

1 reference

12 December 2020

IDIOPATHIC HEMOCHROMATOSIS. GENETIC OR ACQUIRED?

1 reference

12 December 2020

The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis

1 reference

12 December 2020

Seeking candidate mutations that affect iron homeostasis

1 reference

12 December 2020

Mutation analysis of the transferrin receptor-2 gene in patients with iron overload

1 reference

12 December 2020

Idiopathic hemochromatosis. A variant of portal cirrhosis and idiopathic hemosiderosis

1 reference

12 December 2020

Clinical haemochromatosis in HFE mutation carriers

1 reference

12 December 2020

Venesection therapy in idiopathic haemochromatosis. An analysis of 40 treated and 18 untreated patients

1 reference

12 December 2020

Tumor necrosis factor-alpha -308G>A allelic variant modulates iron accumulation in patients with hereditary hemochromatosis

1 reference

12 December 2020

A hematologist's view of unexplained iron deficiency anemia in males: impact of Helicobacter pylori eradication

1 reference

12 December 2020

The effect of transferrin polymorphisms on iron metabolism

1 reference

12 December 2020

Clinical haemochromatosis in HFE mutation carriers

1 reference

12 December 2020

Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons

1 reference

12 December 2020

Alcohol metabolism-mediated oxidative stress down-regulates hepcidin transcription and leads to increased duodenal iron transporter expression

1 reference

12 December 2020

10.1016/J.BCMD.2007.03.009

Identifiers

DOI

1 reference

12 August 2017

1 reference

PMC publication ID

2030637

12 August 2017

PubMed publication ID

17540589

1 reference

PMC publication ID

2030637