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Of the non-HFE (show HFE Proteins) forms of iron overload, TFR2 (show TFR2 Proteins)-, HFE2-, and HAMP (show HAMP Proteins)-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 (show SLC40A1 Proteins) variants that have been previously associated with autosomal-dominant ferroportin (show SLC40A1 Proteins) 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 (show HFE Proteins) and hepatocellular carcinoma.
study shows that patients with CRA (show MTMR11 Proteins) had high expression of BMP6 (show BMP6 Proteins) and hepcidin (show HAMP Proteins) and low expression of s-HJV. BMP6 (show BMP6 Proteins) was found to be negatively correlated with s-HJV; both regulate hepcidin (show HAMP Proteins) 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 (show F2 Proteins) TMPRSS6 (show TMPRSS6 Proteins) 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 (show HFE Proteins) 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 (show HFE Proteins)
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 (show HAMP Proteins) levels
These data suggest that, in Hjv(-/-) females, Bmp6 (show BMP6 Proteins) can provide a signal adequate to maintain hepcidin (show HAMP Proteins) to a level sufficient to avoid extrahepatic iron loading.
The results provide support for the interaction between TMPRSS6 (show TMPRSS6 Proteins) and hemojuvelin in vivo; they also suggest that hemojuvelin could be cleaved by another as yet unknown protease in the absence of functional TMPRSS6 (show TMPRSS6 Proteins).
Hjv (--) and Hfe (show HFE Proteins) (C282YC282Y) transgenic mice displayed enhanced colonization of deep tissues by Yersinia pseudotuberculosis following oral inoculation, recapitulating enhanced susceptibility of humans with hemochromatosis (show HFE Proteins) to disseminated infection with enteropathogenic Yersinia.
The data demonstrate that endothelial cells are the predominant source of BMP6 (show BMP6 Proteins) in the liver and support a model in which endothelial cells BMP6 (show BMP6 Proteins) has paracrine actions on hepatocyte hemojuvelin to regulate hepcidin (show HAMP Proteins) 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 (show HAMP Proteins) expression by hemojuvelin (HJV) requires its interaction with neogenin (show NEO1 Proteins).
Single Hjv(-)/(-) and double Hfe (show HFE Proteins)(-)/(-)Hjv(-)/(-) mice exhibit comparable iron overload. Hfe (show HFE Proteins) and Hjv regulate hepcidin (show HAMP Proteins) via the same pathway.
Results show that HFE (show HFE Proteins) may depend on HJV for hepcidin (show HAMP Proteins) regulation. Residual hepcidin (show HAMP Proteins) in the absence of HFE (show HFE Proteins) suggests either the presence of an unknown regulator synergistic with HJV or that HJV is sufficient to maintain basal levels of hepcidin (show HAMP Proteins).
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 (show HAMP Proteins) 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