HAMP promoter mutation nc.-153C>T in 785 HEIRS study participants.
作者信息
Barton James C, Leiendecker-Foster Catherine, Li Honggui, DelRio-LaFreniere Susie, Acton Ronald T, Eckfeldt John H
出版信息
Haematologica. 2009 Oct;94(10):1465; author reply 1465-6. doi: 10.3324/haematol.2009.011486.
Abstract
摘要
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A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.铁调素启动子中的一种新突变会损害其对骨形态发生蛋白的反应，并导致HFE相关血色素沉着症出现严重表型。
Haematologica. 2009 May;94(5):720-4. doi: 10.3324/haematol.2008.001784. Epub 2009 Mar 13.
2
Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMAD.位于铁调素启动子近端和远端的骨形态发生蛋白（BMP）反应元件对其对HJV/BMP/SMAD的反应至关重要。
J Mol Med (Berl). 2009 May;87(5):471-80. doi: 10.1007/s00109-009-0447-2. Epub 2009 Feb 20.
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Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants.血色素沉着症和铁过载筛查（HEIRS）研究参与者中的血红素载体蛋白1（HCP1）基因变异。
Blood Cells Mol Dis. 2009 Mar-Apr;42(2):150-4. doi: 10.1016/j.bcmd.2008.11.003. Epub 2009 Jan 26.
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Relative contribution of iron genes, dysmetabolism and hepatitis C virus (HCV) in the pathogenesis of altered iron regulation in HCV chronic hepatitis.铁基因、代谢紊乱及丙型肝炎病毒（HCV）在HCV慢性肝炎铁调节异常发病机制中的相对作用
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Hemochromatosis and iron-overload screening in a racially diverse population.不同种族人群中的血色素沉着症和铁过载筛查
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