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Items: 1 to 20 of 83

1.

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.

Eur J Med Genet. 2017 Jun;60(6):308-311. doi: 10.1016/j.ejmg.2017.03.011. Epub 2017 Mar 28.

PMID:
28363629
2.

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.

Nephrology (Carlton). 2018 Apr;23(4):323-330. doi: 10.1111/nep.13010.

PMID:
28130911
3.

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.

Mol Cell Biol. 2015 Apr;35(8):1376-89. doi: 10.1128/MCB.01462-14. Epub 2015 Feb 9.

4.

[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.

Yi Chuan. 2014 Nov;36(11):1152-8. doi: 10.3724/SP.J.1005.2014.1152. Chinese.

PMID:
25567873
5.

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.

Ann Hepatol. 2014 Sep-Oct;13(5):568-71.

6.

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.

Clin Genet. 2015;87(1):96-8. doi: 10.1111/cge.12346. Epub 2014 Feb 12. No abstract available.

PMID:
24635876
7.

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.

Antioxid Redox Signal. 2014 Mar 10;20(8):1181-94. doi: 10.1089/ars.2013.5366. Epub 2013 Sep 17.

8.

Downregulation of hemojuvelin prevents inhibitory effects of bone morphogenetic proteins on iron metabolism in hepatocellular carcinoma.

Maegdefrau U, Arndt S, Kivorski G, Hellerbrand C, Bosserhoff AK.

Lab Invest. 2011 Nov;91(11):1615-23. doi: 10.1038/labinvest.2011.123. Epub 2011 Aug 22.

9.

Immunoassay for human serum hemojuvelin.

Brasse-Lagnel C, Poli M, Lesueur C, Grandchamp B, Lavoinne A, Beaumont C, Bekri S.

Haematologica. 2010 Dec;95(12):2031-7. doi: 10.3324/haematol.2010.022129. Epub 2010 Aug 16.

10.

Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochromatosis type A. A case report.

Militaru MS, Popp RA, Trifa AP.

J Gastrointestin Liver Dis. 2010 Jun;19(2):191-3.

11.

Processing of hemojuvelin requires retrograde trafficking to the Golgi in HepG2 cells.

Maxson JE, Enns CA, Zhang AS.

Blood. 2009 Feb 19;113(8):1786-93. doi: 10.1182/blood-2008-08-174565. Epub 2008 Nov 24.

12.

A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis.

Nagayoshi Y, Nakayama M, Suzuki S, Hokamaki J, Shimomura H, Tsujita K, Fukuda M, Yamashita T, Nakamura Y, Sugiyama S, Ogawa H.

Eur J Heart Fail. 2008 Oct;10(10):1001-6. doi: 10.1016/j.ejheart.2008.07.012. Epub 2008 Aug 24.

13.

Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation.

Ka C, Le Gac G, Letocart E, Gourlaouen I, Martin B, Férec C.

Haematologica. 2007 Sep;92(9):1262-3.

14.

Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.

Aguilar-Martinez P, Lok CY, Cunat S, Cadet E, Robson K, Rochette J.

Haematologica. 2007 Mar;92(3):421-2.

15.

Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis.

Silvestri L, Pagani A, Fazi C, Gerardi G, Levi S, Arosio P, Camaschella C.

Blood. 2007 May 15;109(10):4503-10. Epub 2007 Jan 30.

16.

Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families.

Wallace DF, Dixon JL, Ramm GA, Anderson GJ, Powell LW, Subramaniam N.

Haematologica. 2005 Feb;90(2):254-5.

17.

Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy.

Jánosi A, Andrikovics H, Vas K, Bors A, Hubay M, Sápi Z, Tordai A.

Blood. 2005 Jan 1;105(1):432. No abstract available.

18.

Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

Lee PL, Barton JC, Brandhagen D, Beutler E.

Br J Haematol. 2004 Oct;127(2):224-9.

PMID:
15461631
19.

Juvenile hemochromatosis HJV-related revealed by cardiogenic shock.

Filali M, Le Jeunne C, Durand E, Grinda JM, Roetto A, Daraio F, Bruneval P, Jeunemaitre X, Gimenez-Roqueplo AP.

Blood Cells Mol Dis. 2004 Sep-Oct;33(2):120-4.

PMID:
15315789
20.

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

Le Gac G, Scotet V, Ka C, Gourlaouen I, Bryckaert L, Jacolot S, Mura C, Férec C.

Hum Mol Genet. 2004 Sep 1;13(17):1913-8. Epub 2004 Jul 14.

PMID:
15254010

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