Keywords: 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
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells
Keywords: AAS; atomicabsorption spectrophotometry; 5-ALA; 5-aminoluvulinic acid; APP; amyloid beta precursor protein; BSA; bovine serum albumin; ECLIA; electrochemiluminescence immunoassay; EPAS1; hypoxia-inducible factor 2-alpha; Epo; erythropoietin; FAS; ferrous
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes
Keywords: Hereditary hemochromatosis; Iron overload; Penetrance defect; p.Cys282Tyr; HAMP; BMP2; FTL; SLC40A1; TFR2; TMPRSS6
Decrease in APP and CP mRNA expression supports impairment of iron export in Alzheimer's disease patients
Keywords: ACO1; acotinase 1; AD; Alzheimer's disease; ANCOVA; univariate analysis of co-variance; APP; amyloid-beta precursor protein; Aβ; amyloid-beta; CDR; Clinical Dementia Rating; Cp; ceruloplasmin; CPO; Cp oxidase activity; eQTLs; expression quantitative trai
Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor
Keywords: SLC40A1; Hemochromatosis; Non-HFE hemochromatosis; Ferroxidase; Genetic;
Mammalian iron transporters: Families SLC11 and SLC40
Keywords: 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
Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating plasma tumor necrosis factor-α and macrophage migration inhibitory factor concentrations in African children
Keywords: Ferroportin; SLC40A1; Tumor necrosis factor; Iron; African children
Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV
Keywords: Ferroportin; Hemochromatosis; NIRCA; RT-PCR; SLC40A1
A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis
Keywords: Hemochromatosis; Ferroportin 1; SLC40A1; Mutations;