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Of the non-HFE (zeige HFE Proteine) forms of iron overload, TFR2 (zeige TFR2 Proteine)-, HFE2-, and HAMP (zeige HAMP Proteine)-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 (zeige SLC40A1 Proteine) variants that have been previously associated with autosomal-dominant ferroportin (zeige SLC40A1 Proteine) disease were identified in several populations (pathogenic allele frequency 0.0004), being most prevalent among Africans
A novel homozygous mutation in HJV gene identified in an Arab patient with juvenile hemochromatosis (zeige HFE Proteine) and hepatocellular carcinoma.
study shows that patients with CRA (zeige MTMR11 Proteine) had high expression of BMP6 (zeige BMP6 Proteine) and hepcidin (zeige HAMP Proteine) and low expression of s-HJV. BMP6 (zeige BMP6 Proteine) was found to be negatively correlated with s-HJV; both regulate hepcidin (zeige HAMP Proteine) expression and play important roles in the development of anemia.
HJV levels are low in NAFLD and even lower in iron overloaded NAFLD.
Data show that transmembrane serine protease (zeige F2 Proteine) TMPRSS6 (zeige TMPRSS6 Proteine) cleaves both the heterodimeric and the full-length mutant hemojuvelin (m-HJV).
Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.
The study demonstrates that the two upstream open reading frames (with 28 and 19 codons) present in the 5' UTR of the human HJV mRNA have the ability to significantly decrease translational efficiency under normal conditions.
Case Reports: juvenile hemochromatosis (zeige HFE Proteine) associated with simple heterozygosity for novel HJV mutations and unknown genetic factors.
suggesting that the homozygous mutation p.C321X in HJV is causative in the patient with hemochromatosis (zeige HFE Proteine)
In dialysis patients, hemojuvelin levels are significantly increased but obesity does not have an additional impact.
Anti-hemojuvelin antibody corrects anemia caused by inappropriately high hepcidin (zeige HAMP Proteine) levels
These data suggest that, in Hjv(-/-) females, Bmp6 (zeige BMP6 Proteine) can provide a signal adequate to maintain hepcidin (zeige HAMP Proteine) to a level sufficient to avoid extrahepatic iron loading.
The results provide support for the interaction between TMPRSS6 (zeige TMPRSS6 Proteine) and hemojuvelin in vivo; they also suggest that hemojuvelin could be cleaved by another as yet unknown protease in the absence of functional TMPRSS6 (zeige TMPRSS6 Proteine).
Hjv (--) and Hfe (zeige HFE Proteine) (C282YC282Y) transgenic mice displayed enhanced colonization of deep tissues by Yersinia pseudotuberculosis following oral inoculation, recapitulating enhanced susceptibility of humans with hemochromatosis (zeige HFE Proteine) to disseminated infection with enteropathogenic Yersinia.
The data demonstrate that endothelial cells are the predominant source of BMP6 (zeige BMP6 Proteine) in the liver and support a model in which endothelial cells BMP6 (zeige BMP6 Proteine) has paracrine actions on hepatocyte hemojuvelin to regulate hepcidin (zeige HAMP Proteine) transcription and maintain systemic iron homeostasis.
The minor variant of the HJV polymorphic site rs16827043 is a significant factor associated with hypertension among 50 year-old individuals compared with the AA genotype carriers. For the other polymorphic variant rs7536827, association with hypertension was found only among normal or slightly overweight A-allele carriers. In conclusion, HJV genetic variants were associated with essential hypertension in Finnish subjects.
Results indicate that an efficient induction of hepcidin (zeige HAMP Proteine) expression by hemojuvelin (HJV) requires its interaction with neogenin (zeige NEO1 Proteine).
Single Hjv(-)/(-) and double Hfe (zeige HFE Proteine)(-)/(-)Hjv(-)/(-) mice exhibit comparable iron overload. Hfe (zeige HFE Proteine) and Hjv regulate hepcidin (zeige HAMP Proteine) via the same pathway.
Results show that HFE (zeige HFE Proteine) may depend on HJV for hepcidin (zeige HAMP Proteine) regulation. Residual hepcidin (zeige HAMP Proteine) in the absence of HFE (zeige HFE Proteine) suggests either the presence of an unknown regulator synergistic with HJV or that HJV is sufficient to maintain basal levels of hepcidin (zeige HAMP Proteine).
Parenchymal hepatic iron overload does not suffice to trigger progression of liver steatosis to steatohepatitis or fibrosis in Hjv knockout C57BL/6 mice.
data support an alternative mechanism for hepcidin (zeige HAMP Proteine) regulation during zebrafish embryonic development, which is independent of hjv.
The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30.
RGM domain family member C
, hemochromatosis type 2 protein
, repulsive guidance molecule c
, hemochromatosis type 2 (juvenile)
, hemochromatosis type 2 protein homolog
, repulsive guidance molecule C
, hemochromatosis type 2 (juvenile) (human homolog)
, RGM-like protein