Literature DB >> 25891252

GNPAT variant associated with severe iron overload in HFE hemochromatosis.

Edouard Bardou-Jacquet1,2,3, Marie de Tayrac2,4,5, Jean Mosser2,4,5, Yves Deugnier1,2,3.   

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Year:  2015        PMID： 25891252     DOI： 10.1002/hep.27854

Source DB:  PubMed          Journal:  Hepatology        ISSN： 0270-9139            Impact factor:   17.425


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  4 in total

1.  GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.

Authors:  James C Barton; Wen-Pin Chen; Mary J Emond; Pradyumna D Phatak; V Nathan Subramaniam; Paul C Adams; Lyle C Gurrin; Gregory J Anderson; Grant A Ramm; Lawrie W Powell; Katrina J Allen; John D Phillips; Charles J Parker; Gordon D McLaren; Christine E McLaren
Journal:  Blood Cells Mol Dis       Date:  2016-11-12       Impact factor: 3.039

2.  Gnpat does not play an essential role in systemic iron homeostasis in murine model.

Authors:  Peng An; Jiaming Wang; Hao Wang; Li Jiang; Jia Wang; Junxia Min; Fudi Wang
Journal:  J Cell Mol Med       Date:  2020-02-28       Impact factor: 5.310

Review 3.  Revisiting hemochromatosis: genetic vs. phenotypic manifestations.

Authors:  Gregory J Anderson; Edouard Bardou-Jacquet
Journal:  Ann Transl Med       Date:  2021-04

4.  The <em>TMPRSS6</em> variant (SNP rs855791) affects iron metabolism and oral iron absorption - a stable iron isotope study in Taiwanese women.

Authors:  Simone Buerkli; Sung-Nan Pei; Shu-Chen Hsiao; Chien-Te Lee; Christophe Zeder; Michael B Zimmermann; Diego Moretti
Journal:  Haematologica       Date:  2021-11-01       Impact factor: 9.941
  4 in total

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