(Q37770457)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20607553%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

review article

1 reference

title

Factors influencing disease phenotype and penetrance in HFE haemochromatosis (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20607553%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

2

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7 February 2020

author name string

J Rochette

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20607553%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

K Lassoued

3

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7 February 2020

C Férec

4

1 reference

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7 February 2020

K J H Robson

5

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7 February 2020

publication date

6 July 2010

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7 February 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20607553%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

128

1 reference

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7 February 2020

issue

3

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7 February 2020

page(s)

233-248

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20607553%20AND%20SRC:MED&resulttype=core&format=json

Prognostic factors and survival in patients with hereditary hemochromatosis and cirrhosis

7 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0852-1

Iron overload and cofactors with special reference to alcohol, hepatitis C virus infection and steatosis/insulin resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0852-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0852-1

Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0852-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0852-1

Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0852-1

Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia

21 January 2018

1 reference

12 December 2020

Haemochromatosis in the new millennium.

1 reference

12 December 2020

Current approaches to the management of hemochromatosis

1 reference

12 December 2020

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

1 reference

12 December 2020

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype

1 reference

12 December 2020

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

1 reference

12 December 2020

TGF-beta1 codon 25 gene polymorphism is associated with cirrhosis in patients with hereditary hemochromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Haemochromatosis and HLA-H.

1 reference

12 December 2020

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

1 reference

12 December 2020

The origin and spread of the HFE-C282Y haemochromatosis mutation

1 reference

12 December 2020

Reactive oxygen species and peroxisomes: struggling for balance

1 reference

12 December 2020

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent

1 reference

12 December 2020

Genes that modify the hemochromatosis phenotype in mice

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

Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells

1 reference

12 December 2020

A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis

1 reference

12 December 2020

Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload

1 reference

12 December 2020

Regulation of transferrin receptor 2 protein levels by transferrin

1 reference

12 December 2020

Copper availability contributes to iron perturbations in human nonalcoholic fatty liver disease

1 reference

12 December 2020

The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo

1 reference

12 December 2020

Diabetes mellitus in the elderly: insulin resistance and/or impaired insulin secretion?

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Penetrance of hemochromatosis

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12 December 2020

Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins

1 reference

12 December 2020

SMAD7 controls iron metabolism as a potent inhibitor of hepcidin expression

1 reference

12 December 2020

The penetrance of hemochromatosis: mice to the rescue

1 reference

12 December 2020

Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people

1 reference

12 December 2020

Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients

1 reference

12 December 2020

Metals, oxidative stress, and hepatic fibrogenesis

1 reference

12 December 2020

A population-based study of the clinical expression of the hemochromatosis gene

1 reference

12 December 2020

Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload.

1 reference

12 December 2020

Penetrance in hereditary hemochromatosis

1 reference

12 December 2020

Screening for hemochromatosis by measuring ferritin levels: a more effective approach

1 reference

12 December 2020

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

1 reference

12 December 2020

Modifying factors of the HFE hemochromatosis phenotype

1 reference

12 December 2020

A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism

1 reference

12 December 2020

The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance

1 reference

12 December 2020

Clinical penetrance of C282Y homozygous HFE haemochromatosis

1 reference

12 December 2020

The molecular mechanism of hepcidin-mediated ferroportin down-regulation

1 reference

12 December 2020

Failure of egg cylinder elongation and mesoderm induction in mouse embryos lacking the tumor suppressor smad2.

1 reference

12 December 2020

Transplantation of haemochromatosis liver and intestine into a normal recipient

1 reference

12 December 2020

Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression

1 reference

12 December 2020

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

1 reference

12 December 2020

Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis

1 reference

12 December 2020

Association of myeloperoxidase promotor polymorphism with cirrhosis in patients with hereditary hemochromatosis

1 reference

12 December 2020

Regulation of liver hepcidin expression by alcohol in vivo does not involve Kupffer cell activation or TNF-alpha signaling

1 reference

12 December 2020

Tumor necrosis factor alpha promoter polymorphisms and liver abnormalities of homozygotes for the 845G>A(C282Y) hereditary hemochromatosis mutation

1 reference

12 December 2020

The C282Y mutation causing hereditary hemochromatosis does not produce a null allele

1 reference

12 December 2020

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

1 reference

12 December 2020

Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels

1 reference

12 December 2020

Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

1 reference

12 December 2020

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

1 reference

12 December 2020

Hemochromatosis mutations in the general population: iron overload progression rate

1 reference

12 December 2020

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

1 reference

12 December 2020

Physiologic systemic iron metabolism in mice deficient for duodenal Hfe

1 reference

12 December 2020

Hepcidin regulation in wild-type and Hfe knockout mice in response to alcohol consumption: evidence for an alcohol-induced hypoxic response.

1 reference

12 December 2020

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

1 reference

12 December 2020

A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis.

1 reference

12 December 2020

Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation

1 reference

12 December 2020

Hfe acts in hepatocytes to prevent hemochromatosis.

1 reference

12 December 2020

A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation

1 reference

12 December 2020

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

1 reference

12 December 2020

Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin

1 reference

12 December 2020

Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload.

1 reference

12 December 2020

Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene.

1 reference

12 December 2020

Haptoglobin polymorphism and iron homeostasis

1 reference

12 December 2020

Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression

1 reference

12 December 2020

Hepcidin, the iron watcher

1 reference

12 December 2020

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

1 reference

12 December 2020

Posttranslational processing of hepcidin in human hepatocytes is mediated by the prohormone convertase furin

1 reference

12 December 2020

Haemochromatosis and HLA-H

1 reference

12 December 2020

Lack of the bone morphogenetic protein BMP6 induces massive iron overload

1 reference

12 December 2020

Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux

1 reference

12 December 2020

Contribution of Hfe expression in macrophages to the regulation of hepatic hepcidin levels and iron loading

1 reference

12 December 2020

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.

1 reference

12 December 2020

Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes

1 reference

12 December 2020

Inactivation of the hemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains

1 reference

12 December 2020

Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients.

1 reference

12 December 2020

The penetrance of hereditary hemochromatosis

1 reference

12 December 2020

Targeted disruption of the hepatic transferrin receptor 2 gene in mice leads to iron overload.

1 reference

12 December 2020

Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis

1 reference

12 December 2020

Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent

1 reference

12 December 2020

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

1 reference

12 December 2020

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

1 reference

12 December 2020

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

1 reference

12 December 2020

The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression

1 reference

12 December 2020

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

1 reference

12 December 2020

Iron sensing as a partnership: HFE and transferrin receptor 2.

1 reference

12 December 2020

Patient and graft survival after liver transplantation for hereditary hemochromatosis: Implications for pathogenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Cross-talk between the mitogen activated protein kinase and bone morphogenetic protein/hemojuvelin pathways is required for the induction of hepcidin by holotransferrin in primary mouse hepatocytes

1 reference

12 December 2020

Hepcidin Expression Does Not Rescue the Iron-Poor Phenotype of Kupffer Cells in Hfe-Null Mice After Liver Transplantation

1 reference

12 December 2020

Deregulation of proteins involved in iron metabolism in hepcidin-deficient mice.

1 reference

12 December 2020

beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism

1 reference

12 December 2020

Multigenic control of hepatic iron loading in a murine model of hemochromatosis

1 reference

12 December 2020

Seeking candidate mutations that affect iron homeostasis

1 reference

12 December 2020

Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population

1 reference

12 December 2020

Iron uptake from plasma transferrin by a transferrin receptor 2 mutant mouse model of haemochromatosis

1 reference

12 December 2020

Iron overload in β2-microglobulin-deficient mice

1 reference

12 December 2020

Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Heterogeneity of hemochromatosis in Italy

1 reference

12 December 2020

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

1 reference

12 December 2020

Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver

1 reference

12 December 2020

Diferric transferrin regulates transferrin receptor 2 protein stability

1 reference

12 December 2020

Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism

1 reference

12 December 2020

Clinical penetrance of hereditary hemochromatosis

1 reference

12 December 2020

Tumor necrosis factor alpha promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis

1 reference

12 December 2020

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical haemochromatosis in HFE mutation carriers

1 reference

12 December 2020

Hemochromatosis and dietary iron supplementation: implications from US mortality, morbidity, and health survey data

1 reference

12 December 2020

Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.

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 mouse model of juvenile hemochromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.

1 reference

12 December 2020

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

1 reference

12 December 2020

High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin

1 reference

12 December 2020

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

1 reference

12 December 2020

HFE mutations, iron deficiency and overload in 10,500 blood donors

1 reference

12 December 2020

The serine protease TMPRSS6 is required to sense iron deficiency

1 reference

12 December 2020

Clinical haemochromatosis in HFE mutation carriers

1 reference

12 December 2020

Haptoglobin modifies the hemochromatosis phenotype in mice

1 reference

12 December 2020

HFE gene knockout produces mouse model of hereditary hemochromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular genetics of haemochromatosis.

1 reference

12 December 2020

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

1 reference

12 December 2020

Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations.

1 reference

12 December 2020

A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.

1 reference

12 December 2020

Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness

1 reference

12 December 2020

Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis

1 reference

12 December 2020

Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis

1 reference

12 December 2020

Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the MHC region

1 reference

12 December 2020

Iron-overload-related disease in HFE hereditary hemochromatosis

1 reference

12 December 2020

Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.

1 reference

12 December 2020

Hepatic iron overload in patients with chronic viral hepatitis: role of HFE gene mutations.

1 reference

12 December 2020

Hereditary hemochromatosis: etiologic, pathologic, and clinical aspects.

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

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

1 reference

12 December 2020

Serum ferritin iron in iron overload and liver damage: correlation to body iron stores and diagnostic relevance

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

10.1007/S00439-010-0852-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20607553%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference