Associated Papers
TFR2 p.A75V mutation aggravates liver iron overload in alcoholic liver disease via ERK pathway.
Xie C et al.
Journal of Molecular Medicine (berlin, Germany), 2026
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
Genetic variants underlying precancerous conditions of hepatocellular carcinoma.
Guerrero JJG et al.
International Journal of Cancer, 2026
TMPRSS6 Non-Coding Variants in the Expression of Iron Refractory Iron Deficiency Anemia in Monoallelic Subjects.
Hoving V et al.
Genes, 2026
Comparisons of iron phenotypes and reports of menses, pregnancies, and live births in women with HFE p.C282Y homozygosity and HFE wt/wt.
Barton JC et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
Fanidis D et al.
Genomics, 2026
Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.
Khurana S et al.
Brain Communications, 2026
An integrative neurogenomics workflow for precision medicine in neurodegenerative disorders.
Perezcano C et al.
Frontiers in Dementia, 2026
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
A hemochromatosis allele that protects against Alzheimer's disease injury: A role for H-ferritin.
Rogers JT et al.
Journal of Alzheimer's Disease : Jad, 2025
Incorrect Genotyping in a Hemochromatosis Patient Heterozygous for HFE C282Y and Q283P Variants.
Gils C et al.
International Journal of Laboratory Hematology, 2025
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
HFE-C282Y/C282Y Hemochromatosis Patients Have Lower Serum Transferrin and Strong Negative Correlations Between Iron, Ferritin, and Transferrin Saturation Versus Transferrin Compared With HFE-wt/wt Wild-Type Subjects.
Milman NT
Gastroenterology Research, 2025
Computational analysis and molecular dynamics insights into deleterious SNPs of the HFE gene.
Islam MS et al.
Journal of Biomolecular Structure & Dynamics, 2025
Clinical and Molecular Clues to Diagnosing Hereditary Hyperferritinemia-Cataract Syndrome: Case Report and Literature Review.
Ludikova B et al.
Genes, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
The influences of genetic polymorphisms in three candidate genes on the athletic performance of Korean athletes.
Lee JK et al.
Genes & Genomics, 2025
A structural deletion in the 3'UTR of SLC11A2 is associated with altered iron status: Evidence from two large Danish cohorts.
Brøns N et al.
British Journal of Haematology, 2025
Genetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.
Shrivastava M et al.
The Indian Journal of Medical Research, 2025
Impact of transferrin levels on iron accumulation in transfusion-dependent beta-thalassemia: A genotype-specific analysis.
Liang Y et al.
Journal of Medical Biochemistry, 2025
Early detection of type 1 haemochromatosis: a case of normal ferritin levels with elevated transferrin saturation.
Sasidharan A et al.
Bmj Case Reports, 2025
Associations Between Dietary Iron, SNP rs2794720, and Metabolic Syndrome Risk in Chinese Males and Females: A Community-Based Study in a Chinese Metropolis.
Hu Z et al.
Nutrients, 2025
Linking genetics to MRI-DTI: HFE polymorphism delays Alzheimer's disease white matter degeneration in APOE4 carriers.
Pang R et al.
Journal of Alzheimer's Disease : Jad, 2025
Hereditary Hyperferritinemia-Cataract Syndrome: A Pediatric Case Without Congenital Cataract.
Hemanna A et al.
Cureus, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Iron Metabolism Genes Shape the Course of Liver Fibrosis in Chronic Hepatitis C: From Disease Progression to Reversal After Direct-Acting Antivirals Treatment.
Ferreira J et al.
Viruses, 2025
Hemochromatosis: A Risk Factor for Breast Cancer? Systematic Review and Meta-Analysis.
Buttignol M et al.
European Journal of Breast Health, 2025
Array genotyping of transfusion-relevant blood cell antigens in 6946 ancestrally diverse study participants.
Gleadall NS et al.
Blood, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Isolated Non-Progressive Hemidystonia in a Patient Homozygous for H63D Variant of Hereditary Hemochromatosis: A Case Report and Systematic Literature Review of Movement Disorders in Hereditary Hemochromatosis.
Kalampokini S et al.
Diagnostics (basel, Switzerland), 2025
Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.
Sokkar MF et al.
Biochemical Genetics, 2025
Next Generation Sequencing Allows Identification of a Novel Mutation in the TfR2 Gene and Outperforms the Conventional Diagnostic Techniques.
Longo M et al.
Ejhaem, 2025
A Common Mutation in the Homeostatic Iron Regulatory Gene Alters Astrocyte Migration and Redox Profile.
Nolt M et al.
Faseb Bioadvances, 2025
A frameshift mutation in the PRG4 gene causing camptodactyly-arthropathy-coxa vara-pericarditis syndrome: a case report.
Koyutourk B et al.
Modern Rheumatology Case Reports, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
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
Polymorphic Distribution of Human Homeostatic Iron Regulator Gene H63D rs1799945 and Clinico-Hematological Parameters of Sickle Cell Anemia Patients: A Case-Control Study in Northern Ghana.
Appiah SK et al.
Health Science Reports, 2025
[Hereditary haemochromatosis due to hepcidin resistance].
Norlén MM et al.
Ugeskrift for Laeger, 2025
Iron-Status Indicators and HFE Gene Polymorphisms in Individuals with Amyotrophic Lateral Sclerosis: An Umbrella Review of Meta-analyses and Systematic Reviews.
Khoshdooz S et al.
Biological Trace Element Research, 2025
Sporadic Porphyria Cutanea Tarda, Cutaneous Sarcoidosis, and Compound Heterozygosity of HFE Mutations Cys282Tyr and His63Asp-A Case Report.
Kim JL et al.
Ejhaem, 2025