Keywords: هموکروماتوز ارثی; Iron metabolism; Hereditary hemochromatosis; Next-generation sequencing; Novel mutations; Genetic variants;
مقالات ISI هموکروماتوز ارثی (ترجمه نشده)
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Keywords: هموکروماتوز ارثی; Wilson disease; Hereditary hemochromatosis; Genetic mutation; Biological function; Genotypes and phenotypes; WD; Wilson disease; HH; Hereditary hemochromatosis; TGN; trans-Golgi network; ATP7B; ATPase; Cu + transporting; beta polypeptide; HFE; hemochrom
Keywords: هموکروماتوز ارثی; liver cirrhosis; fibrosis; iron overload; hepatocelullar carcinoma; hereditary hemochromatosis;
Keywords: هموکروماتوز ارثی; Iron overload; Mouse model; Hereditary hemochromatosis; Osteoarthritis; Mechanical stress;
Keywords: هموکروماتوز ارثی; β2M; beta 2-microglobulin; aa; amino acid; ACD; anemia of chronic diseases; BMP; bone morphogenetic protein; BMPR; bone morphogenetic protein receptor; CD; cluster of differentiation; Cp; ceruloplasmin; DcytB; duodenal cytochrome b; Dmt1; proton-coupled
Keywords: هموکروماتوز ارثی; Sobrecarga de ferro; Hemocromatose hereditária; Diabetes mellitus; Secreção de insulina; InsulinorresistênciaIron overload; Hereditary hemochromatosis; Diabetes mellitus; Insulin secretion; Insulin resistance
Keywords: هموکروماتوز ارثی; Iron metabolism; Ineffective erythropoiesis; Hereditary hemochromatosis; β-Thalassemia; Hepcidin/minihepcidins; Lipid nanoparticle siRNA/antisense oligonucleotide;
Keywords: هموکروماتوز ارثی; Hb; hemoglobin; GWAS; genome wide association studies; HH; hereditary hemochromatosis; IDWA; iron deficiency without anemia; SNP; single nucleotide polymorphism; sTfr; soluble transferrin receptor; NASH; nonalcoholic fatty liver disease; T2D; type 2 diabe
Keywords: هموکروماتوز ارثی; Basques; Hereditary hemochromatosis; Microevolution; Population genetics;
Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients
Keywords: هموکروماتوز ارثی; Beta-thalassemia major; Hereditary hemochromatosis; The C282Y mutation; Iron overload complications; Egyptian;
Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians
Keywords: هموکروماتوز ارثی; Hereditary hemochromatosis; HFE; HJV; variants;
R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis
Keywords: هموکروماتوز ارثی; MRI; magnetic resonance imaging; LIC; liver iron concentration; HHC; hereditary hemochromatosis; HFE; human hemochromatosis protein; ROI; region of interest; NTBI; non-transferrin-bound iron; Pancreas; Iron; Hereditary hemochromatosis; Relaxometry;
Disruption of the Hepcidin/Ferroportin Regulatory System Causes Pulmonary Iron Overload and Restrictive Lung Disease
Keywords: هموکروماتوز ارثی; Restrictive lung disease; Ferroportin; Hereditary hemochromatosis; Iron Overload; Hepcidin resistance;
Classification and structural analyses of mutational landscapes in hemochromatosis factor E protein: A protein defective in the hereditary hemochromatosis
Keywords: هموکروماتوز ارثی; HH; hereditary hemochromatosis; HFE; Hereditary Hemochromatosis Factor E; MHC; major histocompatibility complex; RMSD; Root Mean Square Deviations; Rg; Radius of Gyration; RMSF; Root Mean Square Fluctuations; SASA; Solvent Accessible Surface Area; SVM; Su
Contiguous gene deletion in HFE2 region (1q21.1) and pathogenic HFE2 mutations in a Chinese hereditary hemochromatosis patient
Keywords: هموکروماتوز ارثی; HH; Hereditary hemochromatosis; HFE; hemochromatosis; HJV; hemojuvelin; HFE2; hemochromatosis type 2; HAMP; hepcidin; TfR2; transferrin receptor 2; TS; transferrin saturation; SI; serum iron; SF; serum ferritin; TF; transferrin; HGB; hemoglobin; RET; reti
Proton Pump Inhibitors Reduce the Frequency of Phlebotomy in Patients With Hereditary Hemochromatosis
Keywords: هموکروماتوز ارثی; Hepcidin; Dietary Iron Absorption; Heme; Phlebotomies; Genetic; HH; hereditary hemochromatosis; IQR; interquartile range; PPI; proton pump inhibitor; SF; serum ferritin;
Research ArticleIron overload in hereditary tyrosinemia type 1 induces liver injury through the Sp1/Tfr2/hepcidin axis
Keywords: هموکروماتوز ارثی; HTI; hereditary tyrosinemia type I; Fah; fumarylacetoacetate hydrolase; Tfr2; transferrin receptor 2; HH; hereditary hemochromatosis; Hjv; hemojuvelin; NTBC; 2-(2-nitro-4-trifluoromethylbe -nzoyl)-1,3-cyclohexanedione; Fpn; ferroportin; Tfr1; transferrin
Iron gene expression profile in atherogenic Mox macrophages
Keywords: هموکروماتوز ارثی; acLDL; acetylated LDL; ApoEâ/â; Â cells or mice deficient in the gene coding for apolipoprotein E; ATH; atherosclerosis; BMDM; bone marrow-derived macrophages; CP/Cp; ceruloplasmin (gene Cp); EDTA; ethylenediaminetetraacetic acid; ffe; flat iron mutat
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes
Keywords: هموکروماتوز ارثی; Hereditary hemochromatosis; Iron overload; Penetrance defect; p.Cys282Tyr; HAMP; BMP2; FTL; SLC40A1; TFR2; TMPRSS6
Démarche diagnostique devant une hyperferritinémie
Keywords: هموکروماتوز ارثی; Hyperferritinémie; Alcoolisme; Syndrome inflammatoire; Syndrome métabolique; Cytolyse; Hémochromatose héréditaire; IRM hépatique; Hyperferritinemia; Alcoholism; Inflammatory syndrome; Metabolic syndrome; Cytolysis; Hereditary hemochromatosis; Hepati
Research ArticleGenome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis
Keywords: هموکروماتوز ارثی; HH; hereditary hemochromatosis; GWAS; genome-wide association study; SNP; single nucleotide polymorphism; HAS; Haute Autorité de santé; HFE-hemochromatosis; GWAS; Transferrin;
Factores predictores de respuesta a las eritroaféresis terapéuticas en pacientes con sobrecarga férrica bioquímica con hemocromatosis hereditaria tipo 1 y sin ella
Keywords: هموکروماتوز ارثی; Citaféresis; Hemocromatosis hereditaria; Flebotomía; Sobrecarga férricaCytapheresis; Hereditary hemochromatosis; Phlebotomy; Iron overload
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy
Keywords: هموکروماتوز ارثی; TFR2; Hereditary hemochromatosis; Iron overload; Mediterranean area; Novel mutations; Non-HFE hereditary hemochromatosis
Hémochromatose héréditaire : circonstances de découverte et délais diagnostiques
Keywords: هموکروماتوز ارثی; Arthropathie; Homozygotie C282Y; Hémochromatose héréditaire; Ferritinémie; Délai diagnostiqueArthropathy; C282Y homozygosity; Hereditary hemochromatosis; Serum ferritin; Diagnostic delay
Research ArticleTranscription factor NRF2 protects mice against dietary iron-induced liver injury by preventing hepatocytic cell death
Keywords: هموکروماتوز ارثی; HH; hereditary hemochromatosis; ARE; antioxidant response element; FAC; ferric ammonium citrate; AC; ammonium citrate; PI; propidium iodide; hOGG1; human 8-hydroxyguanine DNA glycosylase 1; 8-OHdG; 8-hydroxy-2â²-deoxyguanosine; RER; rough endoplasmic ret
Meta-analyses of HFE variants in coronary heart disease
Keywords: هموکروماتوز ارثی; CHD; coronary heart disease; SNP; single nucleotide polymorphism; HWE; Hardy-Weinberg equilibrium; HH; hereditary hemochromatosis; OR; odds ratio; 95% CI; 95% confidence interval; Coronary heart disease; Hereditary hemochromatosis; HFE; rs1799945;
Mammalian iron transporters: Families SLC11 and SLC40
Keywords: هموکروماتوز ارثی; Nramp1; natural resistance-associated macrophage protein-1; DMT1; divalent metal transporter-1; DCT1; divalent cation transporter-1; Nramp2; natural resistance-associated macrophage protein-2; Ireg1; iron regulated-transporter-1; MTP1; metal transporter p
Os et foie
Keywords: هموکروماتوز ارثی; Densité minérale osseuse; Ostéoporose; Hépatopathie chronique; Cirrhose; Alcool; Cirrhose biliaire primitive; Cholangite sclérosante primitive; Hémochromatose génétique; Hépatite chronique virale; Transplantation hépatique; Bone mineral density;
Hereditary Hemochromatosis: Missed Diagnosis or Misdiagnosis?
Keywords: هموکروماتوز ارثی; Hereditary hemochromatosis; Iron overload; Liver disease; Phlebotomy
An Update on Iron Homeostasis: Make New Friends, but Keep the Old
Keywords: هموکروماتوز ارثی; Hereditary hemochromatosis; Iron homeostasis; Hepcidin; Bone morphogenetic protein;
Una rara causa di osteonecrosi
Keywords: هموکروماتوز ارثی; Hereditary hemochromatosis; Arthropathy; Osteonecrosis;
Diagnostic value of transferrin
Keywords: هموکروماتوز ارثی; AASLD; American Association for the Study of Liver Diseases; CHD; Coronary heart disease; CI; Confidence interval; CKD; Chronic kidney disease; DM; Diabetes mellitus; EASL; European Association for the Study of the Liver; ESA; Erythropoiesis-stimulating a
Hemochromatosis Gene Mutations: Prevalence and Effects on Pegylated-Interferon and Ribavirin Therapy Response in Chronic Hepatitis C in Sardinia
Keywords: هموکروماتوز ارثی; HFE gene; iron overload; viral hepatitis; ALT; alanine aminotransferase; AST; aspartate aminotransferase; AP; alkaline phosphatase; CHC; Chronic hepatitis C; ETR; End of treatment response; GGT; g-glutamyl transpeptidase; HFE; Human hemochromatosis protei
Research articleEffect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis
Keywords: هموکروماتوز ارثی; HH; hereditary hemochromatosis; HFE; hemochromatosis gene; C282Y+/+; homozygosity for the C282Y HFE mutation; HCC; hepatocellular carcinoma; TS; transferrin saturation; TMPRSS6; trans-membrane protease serine 6; IRIDA; iron-refractory iron-deficient anemi
Research ArticleThe hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation
Keywords: هموکروماتوز ارثی; HH; hereditary hemochromatosis; TfR; transferrin receptor; HJV; hemojuvelin; MHC; major histocompatibility complex; β2M; beta 2 microglobulin; Fe2-Tf; transferrin-bound iron; GPI; glycophosphatidylinositol; BMP; bone morphogenetic protein; SMAD; small mo
Hiperferritinemia, ferropenia y síndrome metabólico en un paciente con una nueva mutación en el gen TFR2 y otra en el gen FTL. Estudio familiar
Keywords: هموکروماتوز ارثی; Hiperferritinemia; Hemocromatosis hereditaria; Síndrome hereditario de hiperferritinemia y cataratas; Síndrome metabólico; Receptor 2 transferrina; Cadena ligera de ferritinaHyperferritinemia; Hereditary hemochromatosis; Hereditary hyperferritinemia catar
Using the Extended Health Belief Model to understand siblings’ perceptions of risk for hereditary hemochromatosis
Keywords: هموکروماتوز ارثی; Family communication; Genetics; Hereditary Hemochromatosis; Risk perceptions; Health Belief Model
Iron Regulation of Hepcidin Despite Attenuated Smad1,5,8 Signaling in Mice Without Transferrin Receptor 2 or Hfe
Keywords: هموکروماتوز ارثی; Bone Morphogenetic Protein 6; Id1; ANOVA; analysis of variance; BMP; bone morphogenetic protein; HH; hereditary hemochromatosis; Hjv; hemojuvelin; RT-PCR; reverse-transcription polymerase chain reaction; Tfr2; transferrin receptor 2;
Hepcidin: A novel peptide hormone regulating iron metabolism
Keywords: هموکروماتوز ارثی; Hepcidin; Iron metabolism; Hereditary hemochromatosis; Anemia of chronic disease; Anemia of cancer; Rheumatoid arthritis;
Hereditary hemochromatosis: Laboratory evaluation
Keywords: هموکروماتوز ارثی; Hereditary hemochromatosis; Iron overload; HFE gene; Hepatic iron;
ReviewIron in fatty liver and in the metabolic syndrome: A promising therapeutic target
Keywords: هموکروماتوز ارثی; DIOS; dysmetabolic iron overload syndrome; NAFLD; nonalcoholic fatty liver disease; HHC; hereditary hemochromatosis; MetS; metabolic syndrome; ID; iron depletion; IR; insulin resistance; NASH; nonalcoholic steatohepatitis; HFD; high-fat diet; FFAs; free f
Predicting Iron Overload in Hyperferritinemia
Keywords: هموکروماتوز ارثی; HFE; hemochromatosis gene product; HH; hereditary hemochromatosis; HIC; hepatic iron concentration; TRS; transferrin saturation;
Transplantation of a Liver With the C282Y Mutation into a Recipient Heterozygous for H63D Results in Iron Overload
Keywords: هموکروماتوز ارثی; Hereditary hemochromatosis; Liver transplantation; Iron overload; HFE mutation; Hepcidin;
Hepatic iron overload and hepatocellular carcinoma
Keywords: هموکروماتوز ارثی; Hepatic iron overload; Hepatocellular carcinoma; Hereditary hemochromatosis; African dietary iron overload; Oxidative damage
Increased Mortality Risk in Patients With Phenotypic Hereditary Hemochromatosis But Not in Their First-Degree Relatives
Keywords: هموکروماتوز ارثی; CI; confidence interval; HH; hereditary hemochromatosis; ICD; International Classification of Diseases; NRN; national registration number; RR; relative risk;
Severity of iron overload of proband determines serum ferritin levels in families with HFE-related hemochromatosis: The HEmochromatosis FAmily Study
Keywords: هموکروماتوز ارثی; HH; hereditary hemochromatosis; FDFM; first-degree family members; HEFAS; hemochromatosis family study; TS; transferrin saturation; SF; serum ferritin; OR; odds ratio; BMI; body mass index; AUC; area under the curve; CI; confidence interval; WT; wild type
Noncitrus Fruits as Novel Dietary Environmental Modifiers of Iron Stores in People With or Without HFE Gene Mutations
Keywords: هموکروماتوز ارثی; BMI; body mass index; HH; hereditary hemochromatosis;
The Hereditary Hemochromatosis protein HFE and its chaperone β2-microglobulin localise predominantly to the endosomal-recycling compartment
Keywords: هموکروماتوز ارثی; HFE; β2-Microglobulin; Hereditary Hemochromatosis; Transferrin; Endosomal-recycling compartment; Rab11
Bloodletting: Past and Present
Keywords: هموکروماتوز ارثی; FeAST; Iron and Arteriosclerosis Study; HH; hereditary hemochromatosis; IR-HIO; insulin resistance-associated hepatic iron overload; PAD; peripheral arterial disease; PCT; porphyria cutanea tarda;
The Clinical Relevance of Compound Heterozygosity for the C282Y and H63D Substitutions in Hemochromatosis
Keywords: هموکروماتوز ارثی; HH; hereditary hemochromatosis; HIC; hepatic iron concentration; HII; hepatic iron index;