A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin
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Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosisHepcidin revisited, disulfide connectivity, dynamics, and structureGenetic predisposition to iron overload: prevalence and phenotypic expression of hemochromatosis-associated HFE-C282Y gene mutationSudden sensorineural hearing loss and polymorphisms in iron homeostasis genes: new insights from a case-control studyEffect of Native American ancestry on iron-related phenotypes of Alabama hemochromatosis probands with HFE C282Y homozygosity.Relationship between gene expression of duodenal iron transporters and iron stores in hemochromatosis subjects.Iron transport: emerging roles in health and disease.Hereditary hemochromatosis: perspectives of public health, medical genetics, and primary care.Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.Hepcidin: what every gastroenterologist should know.Clinical penetrance of C282Y homozygous HFE haemochromatosisIron storage disease: facts, fiction and progress.HFE gene mutations in susceptibility to childhood leukemia: HuGE review.Representation of roles in biomedical ontologies: a case study in functional genomics.CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) StudyCharacteristics of participants with self-reported hemochromatosis or iron overload at HEIRS study initial screening.Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.Clinical penetrance of C282Y homozygous HFE hemochromatosis.SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples.The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.Dilemma: Correlation Between Serum Level of Hepcidin and IL-6 in Anemic Myeloma PatientsGenetic polymorphisms and susceptibility to lung diseaseHAMP promoter mutation nc.-153C>T in 785 HEIRS study participants.Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).Hepcidin is linked to hypoferremia in patients with rheumatic valve disease.Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype.Of mice and men: genetic determinants of iron status.
P2860
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P2860
A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin
description
2001 nî lūn-bûn
@nan
2001 թուականին հրատարակուած գիտական յօդուած
@hyw
2001 թվականին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A study of genes that may modu ...... s (IRP)-1 and -2, and hepcidin
@ast
A study of genes that may modu ...... s (IRP)-1 and -2, and hepcidin
@en
A study of genes that may modu ...... s (IRP)-1 and -2, and hepcidin
@nl
type
label
A study of genes that may modu ...... s (IRP)-1 and -2, and hepcidin
@ast
A study of genes that may modu ...... s (IRP)-1 and -2, and hepcidin
@en
A study of genes that may modu ...... s (IRP)-1 and -2, and hepcidin
@nl
prefLabel
A study of genes that may modu ...... s (IRP)-1 and -2, and hepcidin
@ast
A study of genes that may modu ...... s (IRP)-1 and -2, and hepcidin
@en
A study of genes that may modu ...... s (IRP)-1 and -2, and hepcidin
@nl
P2093
P356
P1476
A study of genes that may modu ...... s (IRP)-1 and -2, and hepcidin
@en
P2093
P304
P356
10.1006/BCMD.2001.0445
P407
P577
2001-01-01T00:00:00Z