Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders.
Pietrangelo A
Advances in Experimental Medicine and Biology, 2025
Hepcidin expression is associated with increased γ-secretase-mediated cleavage of neogenin in the liver.
Enns CA et al.
The Journal of Biological Chemistry, 2024
Juvenile Hemochromatosis Connecting Cardiac Arrest and Hypogonadotropic Hypogonadism in a Young Woman.
Zinecker KA et al.
Jcem Case Reports, 2024
HJV mutations causing hemochromatosis: variable phenotypic expression in a pair of twins.
Vadivelan A et al.
Haematologica, 2024
Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient: A case report.
Xie LD et al.
World Journal of Clinical Cases, 2024
Primary Non-HFE Hemochromatosis: A Review.
Turshudzhyan A et al.
Journal of Clinical and Translational Hepatology, 2023
Portrait of autosomal recessive diseases in the French-Canadian founder population of Saguenay-Lac-Saint-Jean.
Cruz Marino T et al.
American Journal of Medical Genetics. Part A, 2023
Genetic Variations of ferroportin-1(FPN1-8CG), TMPRSS6 (rs855791) and Hemojuvelin (I222N and G320V) Among a Cohort of Egyptian β-Thalassemia Major Patients.
El-Gharbawi N et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2023
Juvenile Hemochromatosis in an Asymptomatic Patient-Importance of Early Diagnosis.
Nashed B et al.
Jpgn Reports, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G et al.
Genes, 2021
Ethnic Differences in Iron Status.
Kang W et al.
Advances in Nutrition (bethesda, Md.), 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
Clinical characteristics of endocrinopathies in Chinese patients with hereditary haemochromatosis.
Wu H et al.
Diabetes/metabolism Research and Reviews, 2021
Hepcidin Signaling in Health and Disease: Ironing Out the Details.
Kowdley KV et al.
Hepatology Communications, 2021
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.
Kowdley DS et al.
The Application of Clinical Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Genetic iron overload disorders.
Corradini E et al.
Molecular Aspects of Medicine, 2020
Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors.
Sanchez-Duffhues G et al.
Bone, 2020
Juvenile Hemochromatosis: A Case Report and Review of the Literature.
Takami A et al.
Pharmaceuticals (basel, Switzerland), 2020
Identification of heterozygous p.Y150C and p.V274M mutations in the HJV gene in a Japanese patient with a mild phenotype of juvenile hemochromatosis: A case report.
Kawaguchi T et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2020
Inherited iron overload disorders.
Piperno A et al.
Translational Gastroenterology and Hepatology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X et al.
Orphanet Journal of Rare Diseases, 2019
Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.
Zhang P et al.
Journal of Cachexia, Sarcopenia and Muscle, 2019
[Analysis of HFE and Non-HFE Mutations in a Tibet Cohort with Iron Overload].
Sun SY et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2019
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?
Hamdi-Rozé H et al.
Blood Cells, Molecules & Diseases, 2019
An unexpected cause of liver cirrhosis and cardiomyopathy in a young man.
Pauwels R et al.
Acta Clinica Belgica, 2018
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv T et al.
Journal of Medical Genetics, 2018
Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report.
Cooray SD et al.
Journal of Medical Case Reports, 2018
Pathophysiological consequences and benefits of HFE mutations: 20 years of research.
Hollerer I et al.
Haematologica, 2017
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.
Lanktree MB et al.
European Journal of Haematology, 2017
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Wallace DF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
McLaren CE et al.
Hepatology (baltimore, Md.), 2015
Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis.
Farrell CP et al.
Blood Cells, Molecules & Diseases, 2015
Juvenile Hemochromatosis, Genetic Study and Long-term Follow up after Therapy.
Malekzadeh MM et al.
Middle East Journal of Digestive Diseases, 2014
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.
Core AB et al.
Frontiers in Pharmacology, 2014
Hereditary hemochromatosis: missed diagnosis or misdiagnosis?
Cherfane CE et al.
The American Journal of Medicine, 2013
Repulsive guidance molecules (RGMs) and neogenin in bone morphogenetic protein (BMP) signaling.
Tian C et al.
Molecular Reproduction and Development, 2013
Structure of the repulsive guidance molecule (RGM)-neogenin signaling hub.
Bell CH et al.
Science (new York, N.y.), 2013
Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.
McDonald CJ et al.
Journal of Gastroenterology and Hepatology, 2013
[Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene].
Berg LB et al.
Ugeskrift for Laeger, 2013
A late presentation of a fatal disease: juvenile hemochromatosis.
Cherfane C et al.
Case Reports in Medicine, 2013
An update on laboratory diagnosis of liver inherited diseases.
Zarrilli F et al.
Biomed Research International, 2013