| New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis. | New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G, Ferrer-Cortès X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodríguez IH, Mínguez MÀR, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ricós GG, Giró EC, Pérez-Montero S, Tornador C, Villà-Freixa J, Sánchez M., Free PMC Article | 04/30/2022 |
| Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2. | Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.
Barton JC, Wiener HW, Acton RT. | 04/2/2022 |
| The functional role of hemojuvelin in acute ischemic stroke. | The functional role of hemojuvelin in acute ischemic stroke.
Young GH, Tang SC, Wu VC, Wang KC, Nong JY, Huang PY, Hu CJ, Chiou HY, Jeng JS, Hsu CY., Free PMC Article | 01/9/2021 |
| HJV was significantly downregulated in the muscles of Duchenne muscular dystrophy patients as well as in those of aged humans. | Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.
Zhang P, He J, Wang F, Gong J, Wang L, Wu Q, Li W, Liu H, Wang J, Zhang K, Li M, Huang X, Pu C, Li Y, Jiang F, Wang F, Min J, Chen X., Free PMC Article | 06/27/2020 |
| Compound heterozygous mutations of HJV or combined heterozygous mutations of BMP/SMAD pathway genes, marked by HJV variants in the signal peptide region, may represent a novel aetiological factor for Hereditary haemochromatosis (HH). | Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv T, Zhang W, Xu A, Li Y, Zhou D, Zhang B, Li X, Zhao X, Wang Y, Wang X, Duan W, Wang Q, Xu H, Zheng J, Zhao R, Zhu L, Dong Y, Lu L, Chen Y, Long J, Zheng S, Wang W, You H, Jia J, Ou X, Huang J. | 12/21/2019 |
| mild phenotype and late onset are possible in HJV hemochromatosis | Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?
Hamdi-Rozé H, Ben Ali Z, Ropert M, Detivaud L, Aggoune S, Simon D, Pelletier G, Deugnier Y, David V, Bardou-Jacquet E. | 05/4/2019 |
| Urinary HJV differentiated patients with/without acute kidney injury (AKI), advanced AKI or composite outcome after surgery. | Hemojuvelin Predicts Acute Kidney Injury and Poor Outcomes Following Cardiac Surgery.
Ko SW, Chi NH, Wu CH, Huang TM, Chueh SJ, Wang CH, Lin JH, Wang WJ, Ting JT, Chang HM, Connolly R, Lai CH, Tseng LJ, Wu VC, Chu TS., Free PMC Article | 12/22/2018 |
| Soluble haemojuvelin levels seem to be associated with iron overload parameters and hepcidin levels in hepatitis C virus positive hemodialysis patients. | Relationship of serum haemojuvelin and hepcidin levels with iron level and erythropoietin requirement in prevalent hepatitis C virus positive haemodialysis patients.
El Said HW, Abou Seif KH, Ahmed YS, Abou Elleil HA, El Said TW, Behairy MA, Mohamed MM, Ahmed FA. | 09/8/2018 |
| HJV increases hepcidin expression in cells transfected with mutant ALK2. Thus, although the BMP pathway is inhibited when normal MT2 cleaves HJV, in the presence of both ALK2wt and mutant ALK2, the heterozygosity for the inactive MT2I212T may leave enough membrane HJV to allow persistent hepcidin activation. | A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.
Pagani A, Colucci S, Bocciardi R, Bertamino M, Dufour C, Ravazzolo R, Silvestri L, Camaschella C., Free PMC Article | 02/17/2018 |
| Of the non-HFE forms of iron overload, TFR2-, HFE2-, and HAMP-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 variants that have been previously associated with autosomal-dominant ferroportin disease were identified in several populations (pathogenic allele frequency 0.0004), being most prevalent among Africans | The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Wallace DF, Subramaniam VN. | 12/16/2017 |
| A novel homozygous mutation in HJV gene identified in an Arab patient with juvenile hemochromatosis and hepatocellular carcinoma. | Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.
Ramzan K, Imtiaz F, Al-Ashgar HI, AlSayed M, Sulaiman RA. | 08/12/2017 |
| study shows that patients with CRA had high expression of BMP6 and hepcidin and low expression of s-HJV. BMP6 was found to be negatively correlated with s-HJV; both regulate hepcidin expression and play important roles in the development of anemia. | BMP6 and BMP4 expression in patients with cancer-related anemia and its relationship with hepcidin and s-HJV.
Shi YJ, Pan XT. | 12/31/2016 |
| HJV levels are low in NAFLD and even lower in iron overloaded NAFLD. | The Relationship of Serum Hemojuvelin and Hepcidin Levels with Iron Overload in Nonalcoholic Fatty Liver Disease.
Boga S, Alkim H, Alkim C, Koksal AR, Bayram M, Yilmaz Ozguven MB, Tekin Neijmann S. | 10/8/2016 |
| Data show that transmembrane serine protease TMPRSS6 cleaves both the heterodimeric and the full-length mutant hemojuvelin (m-HJV). | Identification of TMPRSS6 cleavage sites of hemojuvelin.
Rausa M, Ghitti M, Pagani A, Nai A, Campanella A, Musco G, Camaschella C, Silvestri L., Free PMC Article | 04/2/2016 |
| Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy. | Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.
Neřoldová M, Fraňková S, Stránecký V, Honsová E, Lukšan O, Beneš M, Michalová K, Kmoch S, Jirsa M. | 08/22/2015 |
| 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. | Expression of human Hemojuvelin (HJV) is tightly regulated by two upstream open reading frames in HJV mRNA that respond to iron overload in hepatic cells.
Onofre C, Tomé F, Barbosa C, Silva AL, Romão L., Free PMC Article | 06/6/2015 |
| Case Reports: juvenile hemochromatosis associated with simple heterozygosity for novel HJV mutations and unknown genetic factors. | Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors.
Pelusi S, Rametta R, Della Corte C, Congia R, Dongiovanni P, Pulixi EA, Fargion S, Fracanzani AL, Nobili V, Valenti L. | 05/16/2015 |
| suggesting that the homozygous mutation p.C321X in HJV is causative in the patient with hemochromatosis | [Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].
Yuanfeng L, Hongxing Z, Haitao Z, Xiaobo P, Lili B, Fuchu H, Zewu Q, Gangqiao Z. | 03/7/2015 |
| In dialysis patients, hemojuvelin levels are significantly increased but obesity does not have an additional impact. | Obesity does not influence hepcidin and hemojuvelin levels in hemodialysis patients.
Sarafidis PA, Rumjon A, Ackland D, MacLaughlin HL, Bansal SS, Brasse-Lagnel C, Macdougall IC. | 11/8/2014 |
| Membrane bound hemojuvelin (HJV) is associated with decreasing total kidney iron, secreting hepcidin, and promoting the degradation of ferroportin during acute kidney injury, whereas soluble HJV does the opposite. | Hemojuvelin modulates iron stress during acute kidney injury: improved by furin inhibitor.
Young GH, Huang TM, Wu CH, Lai CF, Hou CC, Peng KY, Liang CJ, Lin SL, Chang SC, Tsai PR, Wu KD, Wu VC, Ko WJ, NSARF group., Free PMC Article | 10/18/2014 |
| Data show that Patients with iron-refractory iron-deficiency anemia with a mutation in the TMPRSS6 gene were found to have lower levels of circulating hemojuvelin than those in healthy patients. | Immunoassay for human serum hemojuvelin.
Brasse-Lagnel C, Poli M, Lesueur C, Grandchamp B, Lavoinne A, Beaumont C, Bekri S., Free PMC Article | 05/10/2014 |
| Hemojuvelin and hepcidin affect iron metabolism and are elevated in kidney and heart allograft recipients | Hemojuvelin and iron metabolism in kidney and heart allograft recipients.
Przybylowski P, Koc-Zorawska E, Glowinska I, Levin-Iaina N, Macdougall IC, Malyszko JS, Mysliwiec M, Malyszko J. | 08/31/2013 |
| The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. | The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation.
D'Alessio F, Hentze MW, Muckenthaler MU. | 07/6/2013 |
| neogenin forms a ternary complex with both MT2 and HJV at the plasma membrane. The complex facilitates HJV cleavage by MT2, and release of the cleaved HJV from the cell occurs after a retrograde trafficking through the TGN/Golgi compartments. | Neogenin interacts with matriptase-2 to facilitate hemojuvelin cleavage.
Enns CA, Ahmed R, Zhang AS., Free PMC Article | 01/5/2013 |
| sHJV is elevated in hemodialysis patients compared to non-dialysis CKD patients. There was no association between sHJV and eGFR (in the non-dialysis groups), suggesting that factors other than decreased renal clearance are responsible for high sHJV levels | Serum hemojuvelin and hepcidin levels in chronic kidney disease.
Rumjon A, Sarafidis P, Brincat S, Musto R, Malyszko J, Bansal SS, Macdougall IC. | 07/28/2012 |