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[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.

DOI:10.3760/cma.j.issn.0253-2727.2018.10.017
PMID:30369212
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7348288/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3beb/7348288/908bbc134aec/cjh-39-10-870-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3beb/7348288/908bbc134aec/cjh-39-10-870-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3beb/7348288/908bbc134aec/cjh-39-10-870-g001.jpg

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1
[Mutation of ANKRD26 is responsible for thrombocytopenia 2 (THC2) : a family report in China].[ANKRD26突变导致血小板减少症2型（THC2）：中国的一例家系报告]
Zhonghua Xue Ye Xue Za Zhi. 2018 Oct 14;39(10):870-872. doi: 10.3760/cma.j.issn.0253-2727.2018.10.017.
2
A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review.一个罕见的患有血小板减少症的中国大家庭2：病例报告及文献综述
Front Genet. 2020 Apr 15;11:340. doi: 10.3389/fgene.2020.00340. eCollection 2020.
3
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.ANKRD26 基因的 5'UTR 突变导致常染色体显性遗传性血小板减少症，THC2。
Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006.
4
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.ANKRD26 基因突变导致一种常见的遗传性血小板减少症：21 个家族 78 例患者的分析。
Blood. 2011 Jun 16;117(24):6673-80. doi: 10.1182/blood-2011-02-336537. Epub 2011 Apr 5.
5
5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia.急性髓系白血病中ANKRD26的5'非翻译区点突变和N端截短突变
J Hematol Oncol. 2017 Jan 18;10(1):18. doi: 10.1186/s13045-016-0382-y.
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ANKRD26 normocytic thrombocytopenia: a family report.ANKRD26相关性正细胞性血小板减少症：一份家族报告。
Ann Biol Clin (Paris). 2016 Jun 1;74(3):317-22. doi: 10.1684/abc.2016.1142.
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Thrombocytopenias due to gray platelet syndrome or THC2 mutations.由于灰色血小板综合征或 THC2 突变引起的血小板减少症。
Semin Thromb Hemost. 2011 Sep;37(6):690-7. doi: 10.1055/s-0031-1291379. Epub 2011 Nov 18.
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Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family.先天性ANKRD26突变相关血小板减少症的临床和实验室特征：一个家族的详细表型研究
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Spectrum of 5'UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected.遗传性血小板减少症患者ANKRD26基因5'UTR突变谱：c.-140C>G突变比预期更常见。
Platelets. 2017 Sep;28(6):621-624. doi: 10.1080/09537104.2016.1267337. Epub 2017 Feb 16.
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Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia.遗传性血小板减少症和血小板疾病伴种系倾向的髓系肿瘤。
Int J Lab Hematol. 2019 May;41 Suppl 1:131-141. doi: 10.1111/ijlh.12999.

引用本文的文献

1
A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review.一个罕见的患有血小板减少症的中国大家庭2：病例报告及文献综述
Front Genet. 2020 Apr 15;11:340. doi: 10.3389/fgene.2020.00340. eCollection 2020.

本文引用的文献

1
Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.ANKRD26 突变导致的遗传性血小板减少症误诊为骨髓增生异常综合征：两例报告。
J Thromb Haemost. 2017 Dec;15(12):2388-2392. doi: 10.1111/jth.13855. Epub 2017 Oct 28.
2
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.ANKRD26 调控区相关血小板减少症突变诱导 MAPK 过度激活。
J Clin Invest. 2014 Feb;124(2):580-91. doi: 10.1172/JCI71861. Epub 2014 Jan 16.
3
Thrombocytopenias due to gray platelet syndrome or THC2 mutations.
由于灰色血小板综合征或 THC2 突变引起的血小板减少症。
Semin Thromb Hemost. 2011 Sep;37(6):690-7. doi: 10.1055/s-0031-1291379. Epub 2011 Nov 18.
4
Partial inactivation of Ankrd26 causes diabetes with enhanced insulin responsiveness of adipose tissue in mice.Ankrd26 部分失活导致小鼠糖尿病，并增强脂肪组织对胰岛素的反应性。
Diabetologia. 2011 Nov;54(11):2911-22. doi: 10.1007/s00125-011-2263-9. Epub 2011 Aug 13.
5
Ankrd26 gene disruption enhances adipogenesis of mouse embryonic fibroblasts.Ankrd26 基因缺失增强了小鼠胚胎成纤维细胞的脂肪生成。
J Biol Chem. 2011 Aug 5;286(31):27761-8. doi: 10.1074/jbc.M111.248435. Epub 2011 Jun 13.
6
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.ANKRD26 基因突变导致一种常见的遗传性血小板减少症：21 个家族 78 例患者的分析。
Blood. 2011 Jun 16;117(24):6673-80. doi: 10.1182/blood-2011-02-336537. Epub 2011 Apr 5.
7
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.ANKRD26 基因的 5'UTR 突变导致常染色体显性遗传性血小板减少症，THC2。
Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006.
8
The substrate of Greatwall kinase, Arpp19, controls mitosis by inhibiting protein phosphatase 2A.长城激酶的底物 Arpp19 通过抑制蛋白磷酸酶 2A 来控制有丝分裂。
Science. 2010 Dec 17;330(6011):1673-7. doi: 10.1126/science.1197048.
9
Greatwall phosphorylates an inhibitor of protein phosphatase 2A that is essential for mitosis.长城激酶磷酸化了一种蛋白磷酸酶 2A 的抑制剂，这种抑制剂对于有丝分裂是必需的。
Science. 2010 Dec 17;330(6011):1670-3. doi: 10.1126/science.1195689.
10
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.在常染色体显性血小板减少症中发现的含酰基辅酶A结合结构域蛋白5基因（ACBD5）的一种突变。
J Thromb Haemost. 2010 Sep;8(9):2085-7. doi: 10.1111/j.1538-7836.2010.03979.x.