[Mutation of ANKRD26 is responsible for thrombocytopenia 2 (THC2) : a family report in China].
作者信息
Liu X F, Huang Y T, Chen Y F, Fu R F, Liu W, Xue F, Zhang L, Yang R C
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2018 Oct 14;39(10):870-872. doi: 10.3760/cma.j.issn.0253-2727.2018.10.017.
Abstract
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引用本文的文献
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A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review.
Front Genet. 2020 Apr 15;11:340. doi: 10.3389/fgene.2020.00340. eCollection 2020.
本文引用的文献
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Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.
J Thromb Haemost. 2017 Dec;15(12):2388-2392. doi: 10.1111/jth.13855. Epub 2017 Oct 28.
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Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
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Thrombocytopenias due to gray platelet syndrome or THC2 mutations.
Semin Thromb Hemost. 2011 Sep;37(6):690-7. doi: 10.1055/s-0031-1291379. Epub 2011 Nov 18.
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Partial inactivation of Ankrd26 causes diabetes with enhanced insulin responsiveness of adipose tissue in mice.
Diabetologia. 2011 Nov;54(11):2911-22. doi: 10.1007/s00125-011-2263-9. Epub 2011 Aug 13.
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Ankrd26 gene disruption enhances adipogenesis of mouse embryonic fibroblasts.
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Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Blood. 2011 Jun 16;117(24):6673-80. doi: 10.1182/blood-2011-02-336537. Epub 2011 Apr 5.
7
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A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.
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