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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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A gene expression and pre-mRNA splicing signature that marks the adenoma-adenocarcinoma progression in colorectal cancer

PloS one, 2014-02, Vol.9 (2), p.e87761-e87761

2014

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The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

Haematologica (Roma), 2018-11, Vol.103 (11), p.1796-1805

2018

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Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

Journal of hepatology, 2015-03, Vol.62 (3), p.664-672

2015

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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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Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

Annals of clinical and translational neurology, 2019-09, Vol.6 (9), p.1681-1695

2019

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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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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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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Nucleic acids research, 2018-09, Vol.46 (15), p.7913

2018

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Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements

Nucleic acids research, 2016-04, Vol.44 (6), p.2564

2016

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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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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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SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Human mutation, 2022-12, Vol.43 (12), p.2308-2323

2022

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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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Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression

Transfusion (Philadelphia, Pa.), 2021-08, Vol.61 (8), p.2468-2476

2021

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Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue

International journal of molecular sciences, 2021-06, Vol.22 (12), p.6412

2021

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Hereditary Hemochromatosis: Effect of Excessive Alcohol Consumption on Disease Expression in Patients Homozygous for the C282Y Mutation

American journal of epidemiology, 2003-07, Vol.158 (2), p.129-134

2003

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The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion

Molecular genetics and metabolism, 2010-03, Vol.99 (3), p.319-324

2010

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Recommandations pour la (bonne) pratique du diagnostic moléculaire de l'hémochromatose liée au gène HFE Synthèse d'une enquête réalisée auprès du réseau national des laboratoires pratiquant le diagnostic de maladies rares du métabolisme du fer

Annales de biologie clinique (Paris), 2012-05, Vol.70 (3), p.305-313

2012

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Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer

BMC cancer, 2016-03, Vol.16 (208), p.210-210, Article 210

2016

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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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The molecular genetics of haemochromatosis

European journal of human genetics : EJHG, 2005-11, Vol.13 (11), p.1172-1185

2005

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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

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature

A gene expression and pre-mRNA splicing signature that marks the adenoma-adenocarcinoma progression in colorectal cancer

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

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

Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

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

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

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements

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

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

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

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

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression

Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

Hereditary Hemochromatosis: Effect of Excessive Alcohol Consumption on Disease Expression in Patients Homozygous for the C282Y Mutation

The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion

Recommandations pour la (bonne) pratique du diagnostic moléculaire de l'hémochromatose liée au gène HFE Synthèse d'une enquête réalisée auprès du réseau national des laboratoires pratiquant le diagnostic de maladies rares du métabolisme du fer

Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer

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

The molecular genetics of haemochromatosis

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