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A novel nucleotide substitution in the 5' untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families.

作者信息

Diep Robert T, Corey Kristin, Arcasoy Murat O

机构信息

Division of Hematology, Department of Medicine and Duke Cancer Institute, Duke University School of Medicine, Durham, NC, 27710, USA.

出版信息

Ann Hematol. 2019 Jul;98(7):1789-1791. doi: 10.1007/s00277-019-03632-y. Epub 2019 Feb 12.

DOI:10.1007/s00277-019-03632-y
PMID:30747248
Abstract
摘要

相似文献

1
A novel nucleotide substitution in the 5' untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families.ANKRD26基因5'非翻译区的一种新型核苷酸替代与遗传性血小板减少症相关：两个新家族的报告。
Ann Hematol. 2019 Jul;98(7):1789-1791. doi: 10.1007/s00277-019-03632-y. Epub 2019 Feb 12.
2
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。
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3
A missense mutation in ANKRD26 segregates with thrombocytopenia.ANKRD26基因中的一个错义突变与血小板减少症相关。
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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
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5
Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.三代表型家族中血小板减少症相关的 c.-118C>T 和 c.-140C>GANKRD26 5'UTR 变异对其的影响。
Platelets. 2024 Dec;35(1):2388103. doi: 10.1080/09537104.2024.2388103. Epub 2024 Aug 30.
6
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。
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ANKRD26-related thrombocytopenia and myeloid malignancies.ANKRD26相关的血小板减少症和髓系恶性肿瘤。
Blood. 2013 Sep 12;122(11):1987-9. doi: 10.1182/blood-2013-04-499319.
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Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.对血小板体积小或正常的遗传性血小板减少症患者进行筛查的遗传和临床参数分析。
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Prevalence and natural history of variants in the gene: a short review and update of reported cases.基因变异的流行率和自然史：对已报道病例的简短回顾和更新。
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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。
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引用本文的文献

1
Gene Mutation and Thrombocytopenia-Is the Risk of Malignancy Dependent on the Mutation Variant?基因突变与血小板减少症——恶性肿瘤风险是否取决于突变变体？
Hematol Rep. 2025 Jul 24;17(4):37. doi: 10.3390/hematolrep17040037.
2
Prevalence and natural history of variants in the gene: a short review and update of reported cases.基因变异的流行率和自然史：对已报道病例的简短回顾和更新。
Platelets. 2022 Nov 17;33(8):1107-1112. doi: 10.1080/09537104.2022.2071853. Epub 2022 May 19.
3
Inherited Thrombocytopenia Caused by Germline Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome.
遗传性血小板减少症由种系突变引起，在疑似骨髓增生异常综合征的年轻患者中应予以考虑。
J Investig Med High Impact Case Rep. 2020 Jan-Dec;8:2324709620938941. doi: 10.1177/2324709620938941.
4
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.