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anti-Human HFE2 Antikörper:
anti-Mouse (Murine) HFE2 Antikörper:
anti-Rat (Rattus) HFE2 Antikörper:
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Human Polyclonal HFE2 Primary Antibody für ELISA, WB - ABIN566853
Lakhal, Schödel, Townsend, Pugh, Ratcliffe, Mole: Regulation of type II transmembrane serine proteinase TMPRSS6 by hypoxia-inducible factors: new link between hypoxia signaling and iron homeostasis. in The Journal of biological chemistry 2011
HJV increases hepcidin (zeige HAMP Antikörper) expression in cells transfected with mutant ALK2 (zeige ACRV1 Antikörper). Thus, although the BMP pathway is inhibited when normal MT2 (zeige MT2 Antikörper) cleaves HJV, in the presence of both ALK2wt and mutant ALK2 (zeige ACRV1 Antikörper), the heterozygosity for the inactive MT2I212T may leave enough membrane HJV to allow persistent hepcidin (zeige HAMP Antikörper) activation.
Of the non-HFE (zeige HFE Antikörper) forms of iron overload, TFR2 (zeige TFR2 Antikörper)-, HFE2-, and HAMP (zeige HAMP Antikörper)-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 (zeige SLC40A1 Antikörper) variants that have been previously associated with autosomal-dominant ferroportin (zeige SLC40A1 Antikörper) 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 Antikörper) and hepatocellular carcinoma.
study shows that patients with CRA (zeige MTMR11 Antikörper) had high expression of BMP6 (zeige BMP6 Antikörper) and hepcidin (zeige HAMP Antikörper) and low expression of s-HJV. BMP6 (zeige BMP6 Antikörper) was found to be negatively correlated with s-HJV; both regulate hepcidin (zeige HAMP Antikörper) expression and play important roles in the development of anemia.
HJV levels are low in NAFLD (zeige TSC2 Antikörper) and even lower in iron overloaded NAFLD (zeige TSC2 Antikörper).
Data show that transmembrane serine protease (zeige F2 Antikörper) TMPRSS6 (zeige TMPRSS6 Antikörper) 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 (zeige UTS2R Antikörper) of the human HJV mRNA have the ability to significantly decrease translational efficiency under normal conditions.
Case Reports: juvenile hemochromatosis (zeige HFE Antikörper) 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 Antikörper)
Anti-hemojuvelin antibody corrects anemia caused by inappropriately high hepcidin (zeige HAMP Antikörper) levels
These data suggest that, in Hjv(-/-) females, Bmp6 (zeige BMP6 Antikörper) can provide a signal adequate to maintain hepcidin (zeige HAMP Antikörper) to a level sufficient to avoid extrahepatic iron loading.
The results provide support for the interaction between TMPRSS6 (zeige TMPRSS6 Antikörper) 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 Antikörper).
Hjv (--) and Hfe (zeige HFE Antikörper) (C282YC282Y) transgenic mice displayed enhanced colonization of deep tissues by Yersinia pseudotuberculosis following oral inoculation, recapitulating enhanced susceptibility of humans with hemochromatosis (zeige HFE Antikörper) to disseminated infection with enteropathogenic Yersinia.
The data demonstrate that endothelial cells are the predominant source of BMP6 (zeige BMP6 Antikörper) in the liver and support a model in which endothelial cells BMP6 (zeige BMP6 Antikörper) has paracrine actions on hepatocyte hemojuvelin to regulate hepcidin (zeige HAMP Antikörper) 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 Antikörper) expression by hemojuvelin (HJV) requires its interaction with neogenin (zeige NEO1 Antikörper).
Single Hjv(-)/(-) and double Hfe (zeige HFE Antikörper)(-)/(-)Hjv(-)/(-) mice exhibit comparable iron overload. Hfe (zeige HFE Antikörper) and Hjv regulate hepcidin (zeige HAMP Antikörper) via the same pathway.
Results show that HFE (zeige HFE Antikörper) may depend on HJV for hepcidin (zeige HAMP Antikörper) regulation. Residual hepcidin (zeige HAMP Antikörper) in the absence of HFE (zeige HFE Antikörper) suggests either the presence of an unknown regulator synergistic with HJV or that HJV is sufficient to maintain basal levels of hepcidin (zeige HAMP Antikörper).
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 Antikörper) 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