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[Research progress of Molecular diagnostic technique in Venous Thromboembolism].

作者信息

Cai Y H, Deng J, Hu Y

机构信息

Department of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2022 Nov 14;43(11):964-968. doi: 10.3760/cma.j.issn.0253-2727.2022.11.015.

DOI:10.3760/cma.j.issn.0253-2727.2022.11.015
PMID:36709191
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9808858/
Abstract
摘要

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本文引用的文献

1
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China.高通量测序技术在中国西南部遗传性血小板减少症中的应用。
J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
2
Genome sequencing unveils a regulatory landscape of platelet reactivity.基因组测序揭示了血小板反应性的调控图谱。
Nat Commun. 2021 Jun 15;12(1):3626. doi: 10.1038/s41467-021-23470-9.
3
Targeted next-generation sequencing reveals novel and known variants of thrombophilia associated genes in Saudi patients with venous thromboembolism.靶向新一代测序揭示沙特静脉血栓栓塞患者中血栓形成倾向相关基因的新变异和已知变异。
Clin Chim Acta. 2021 Aug;519:247-254. doi: 10.1016/j.cca.2021.05.012. Epub 2021 May 18.
4
Single- and Multimarker Genome-Wide Scans Evidence Novel Genetic Risk Modifiers for Venous Thromboembolism.单基因和多基因全基因组扫描为静脉血栓栓塞提供新的遗传风险修饰因子。
Thromb Haemost. 2021 Sep;121(9):1169-1180. doi: 10.1055/s-0041-1723988. Epub 2021 Feb 16.
5
Expressions and relationship of Krüppel-like factor 15 and endothelial nitric oxide synthase in experimental deep venous thrombosis.实验性深静脉血栓形成中Krüppel样因子15与内皮型一氧化氮合酶的表达及关系
Ann Transl Med. 2020 Sep;8(17):1090. doi: 10.21037/atm-20-5828.
6
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.对 126 名遗传性血小板疾病患者进行全面的生物信息学分析，以鉴定序列和拷贝数遗传变异。
Hum Mutat. 2020 Nov;41(11):1848-1865. doi: 10.1002/humu.24114. Epub 2020 Oct 8.
7
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.至少有五个基因的致病性和可能致病性变异约占轻度孤立性无综合征血小板减少症的 3%。
Transfusion. 2020 Oct;60(10):2419-2431. doi: 10.1111/trf.15992. Epub 2020 Aug 5.
8
Strengths and limitations of high-throughput sequencing for the diagnosis of inherited bleeding and platelet disorders.高通量测序在遗传性出血和血小板疾病诊断中的优势与局限性。
J Thromb Haemost. 2020 Aug;18(8):1839-1845. doi: 10.1111/jth.14945.
9
miR-374b-5p is increased in deep vein thrombosis and negatively targets IL-10.miR-374b-5p 在深静脉血栓形成中增加，并负向靶向作用于 IL-10。
J Mol Cell Cardiol. 2020 Jul;144:97-108. doi: 10.1016/j.yjmcc.2020.05.011. Epub 2020 May 21.
10
Molecular genetic analysis of inherited protein C deficiency caused by the novel large deletion across two exons of PROC.
Thromb Res. 2020 Apr;188:115-118. doi: 10.1016/j.thromres.2020.03.009. Epub 2020 Mar 10.