Literature DB >> 15138164

Identification of a novel mutation (C321X) in HJV.

Franklin W Huang1, Isabel Rubio-Aliaga, James P Kushner, Nancy C Andrews, Mark D Fleming.   

Abstract

Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders.

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Year:  2004        PMID： 15138164     DOI： 10.1182/blood-2004-01-0400

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  12 in total

1.  Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis.

Authors:  Yongwei Wang; Yali Du; Gang Liu; Shanshan Guo; Bo Hou; Xianyong Jiang; Bing Han; Yanzhong Chang; Guangjun Nie
Journal:  Int J Hematol       Date:  2016-11-28       Impact factor: 2.490

Review 2.  Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.

Authors:  James E Nelson; Kris V Kowdley
Journal:  Curr Gastroenterol Rep       Date:  2005-02

Review 3.  Hemojuvelin: a supposed role in iron metabolism one year after its discovery.

Authors:  Peter Celec
Journal:  J Mol Med (Berl)       Date:  2005-05-05       Impact factor: 4.599

4.  Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Authors:  Wei Zhang; Yanmeng Li; Anjian Xu; Qin Ouyang; Liyan Wu; Donghu Zhou; Lina Wu; Bei Zhang; Xinyan Zhao; Yu Wang; Xiaoming Wang; Weijia Duan; Qianyi Wang; Hong You; Jian Huang; Xiaojuan Ou; Jidong Jia
Journal:  Orphanet J Rare Dis       Date:  2022-06-06       Impact factor: 4.303

5.  Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family.

Authors:  Shufeng Li; Jun Xue; Baojun Chen; Qiwei Wang; Minke Shi; Xiaojing Xie; Liang Zhang
Journal:  Int J Hematol       Date:  2014-03-02       Impact factor: 2.490

6.  Hepcidin targets ferroportin for degradation in hepatocytes.

Authors:  Guillemette Ramey; Jean-Christophe Deschemin; Béatrice Durel; François Canonne-Hergaux; Gaël Nicolas; Sophie Vaulont
Journal:  Haematologica       Date:  2009-09-22       Impact factor: 9.941

7.  The hepcidin-binding site on ferroportin is evolutionarily conserved.

Authors:  Ivana De Domenico; Elizabeta Nemeth; Jenifer M Nelson; John D Phillips; Richard S Ajioka; Michael S Kay; James P Kushner; Tomas Ganz; Diane M Ward; Jerry Kaplan
Journal:  Cell Metab       Date:  2008-08       Impact factor: 27.287

Review 8.  Non-HFE haemochromatosis.

Authors:  Daniel-F Wallace; V-Nathan Subramaniam
Journal:  World J Gastroenterol       Date:  2007-09-21       Impact factor: 5.742

Review 9.  Ethnic Differences in Iron Status.

Authors:  Wanhui Kang; Alexa Barad; Andrew G Clark; Yiqin Wang; Xu Lin; Zhenglong Gu; Kimberly O O'Brien
Journal:  Adv Nutr       Date:  2021-10-01       Impact factor: 8.701

10.  Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.

Authors:  James C Barton; Charles A Rivers; Sandrine Niyongere; Sean B Bohannon; Ronald T Acton
Journal:  BMC Med Genet       Date:  2004-12-20       Impact factor: 2.103
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