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Structure-Function Analysis of the Human Ferroportin Iron Exporter (SLC40A1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues

Human mutation, 2013-10, Vol.34 (10), p.1371-1380

2013

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The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype

HGG advances, 2024-10, Vol.5 (4), p.100335, Article 100335

2024

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A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

Annals of clinical and translational neurology, 2020-09, Vol.7 (9), p.1574-1579

2020

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A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases

British journal of haematology, 2009-11, Vol.147 (3), p.379-385

2009

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Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study

PloS one, 2013-12, Vol.8 (12), p.e81128

2013

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

Haematologica (Roma), 2010-04, Vol.95 (4), p.685-687

2010

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Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

Transfusion (Philadelphia, Pa.), 2019-04, Vol.59 (4), p.1367-1375

2019

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The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin

Gastroenterology (New York, N.Y. 1943), 2016-10, Vol.151 (4), p.769-770

2016

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

Haematologica (Roma), 2007-09, Vol.92 (9), p.1262-1263

2007

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Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A

The FASEB journal, 2019-12, Vol.33 (12), p.14625-14635

2019

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

Human molecular genetics, 2014-09, Vol.23 (17), p.4479-4490

2014

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Prevalence of HFE‐related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated by venesection

Alimentary pharmacology & therapeutics, 2022-04, Vol.55 (8), p.1016-1027

2022

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Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes

Blood cells, molecules, & diseases, 2021-03, Vol.87, p.102527-102527, Article 102527

2021

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Altération du mécanisme d’épissage dans l’affaiblissement de l’expression membranaire de l’antigène D

Transfusion clinique et biologique : journal de la Société française de transfusion sanguine, 2019-09, Vol.26 (3), p.S59-S59

2019

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Diagnostic value of targeted next‐generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele

American journal of hematology, 2017-12, Vol.92 (12), p.E664-E666

2017

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Importance du diagnostic différentiel de l’hyperferritinémie chez les patients traités par phlébotomies à l’établissement français du sang (EFS) : résultats de l’étude EMSAI (étude multicentrique sur les patients admis dans un protocole de saignées itératives)

Transfusion clinique et biologique : journal de la Société française de transfusion sanguine, 2017-09, Vol.24 (3), p.309-309

2017

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HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype

Advances in Hematology, 2009, Vol.2009, p.251701-6

2009

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

Human molecular genetics, 2004-09, Vol.13 (17), p.1913-1918

2004

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Biostructural Pathology of the Loss of the 225S-S282 Disulfide Bond in HFE: A Molecular Dynamic Study of the p.Arg226Gly HFE Variant

Blood, 2011-11, Vol.118 (21), p.1043-1043

2011

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Characterization of the second HFE gross deletion highlights the potential importance of Alu‐mediated recombination in haemochromatosis

British journal of haematology, 2015-03, Vol.168 (5), p.759-762

2015

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Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: Molecular dynamics and biochemical studies

Blood cells, molecules, & diseases, 2014-01, Vol.52 (1), p.27-34

2014

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HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients

Annals of hematology, 2015-07, Vol.94 (7), p.1225-1227

2015

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

Blood cells, molecules, & diseases, 2010-01, Vol.44 (1), p.34-37

2010

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

Blood, 2008-12, Vol.112 (13), p.5238-5240

2008

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Hétérogénéité génétique et allélique des hémochromatoses héréditaires

Hématologie, 2004, Vol.10 (1), p.24-32

2004

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Structure-Function Analysis of the Human Ferroportin Iron Exporter (SLC40A1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study

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

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin

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

Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A

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

Prevalence of HFE‐related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated by venesection

Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes

Altération du mécanisme d’épissage dans l’affaiblissement de l’expression membranaire de l’antigène D

Diagnostic value of targeted next‐generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele

Importance du diagnostic différentiel de l’hyperferritinémie chez les patients traités par phlébotomies à l’établissement français du sang (EFS) : résultats de l’étude EMSAI (étude multicentrique sur les patients admis dans un protocole de saignées itératives)

HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype

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

Biostructural Pathology of the Loss of the 225S-S282 Disulfide Bond in HFE: A Molecular Dynamic Study of the p.Arg226Gly HFE Variant

Characterization of the second HFE gross deletion highlights the potential importance of Alu‐mediated recombination in haemochromatosis

Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: Molecular dynamics and biochemical studies

HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients

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

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

Hétérogénéité génétique et allélique des hémochromatoses héréditaires

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