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Spectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.

作者信息

Xinh Phan Thi, Chuong Ho Quoc, Thanh Hien Hoang Phan, Nghia Huynh, Lien Anh Phan Nguyen, Le Phuc Hoang, Mai Anh Nguyen Hoang, Van Nguyen Dinh, Vu Hoang Anh

机构信息

Department of Hematology, School of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.

Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam.

出版信息

Mol Biol Rep. 2025 Aug 23;52(1):841. doi: 10.1007/s11033-025-10951-z.

DOI:10.1007/s11033-025-10951-z
PMID:40848069
Abstract
摘要

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本文引用的文献

1
Stimulation of the catalytic activity of the tyrosine kinase Btk by the adaptor protein Grb2.衔接蛋白 Grb2 对酪氨酸激酶 Btk 的催化活性的刺激作用。
Elife. 2023 Apr 26;12:e82676. doi: 10.7554/eLife.82676.
2
Structural Complementarity of Bruton's Tyrosine Kinase and Its Inhibitors for Implication in B-Cell Malignancies and Autoimmune Diseases.布鲁顿酪氨酸激酶与其抑制剂的结构互补性在B细胞恶性肿瘤和自身免疫性疾病中的意义
Pharmaceuticals (Basel). 2023 Mar 7;16(3):400. doi: 10.3390/ph16030400.
3
Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.
无丙种球蛋白血症：从X连锁型到常染色体显性遗传型疾病
Clin Rev Allergy Immunol. 2022 Aug;63(1):22-35. doi: 10.1007/s12016-021-08870-5. Epub 2021 Jul 9.
4
Clinical and Genetic Study of X-linked Agammaglobulinemia Patients (The Benefit of Early Diagnosis).X 连锁无丙种球蛋白血症患者的临床和遗传学研究（早期诊断的益处）。
Iran J Allergy Asthma Immunol. 2020 Jun 23;19(3):305-309. doi: 10.18502/ijaai.v19i3.3458.
5
Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations.中国河南省 22 个 X 连锁无丙种球蛋白血症（XLA）家系的临床特征和产前诊断与 Bruton 酪氨酸激酶（BTK）基因突变相关。
BMC Med Genet. 2020 Jun 17;21(1):131. doi: 10.1186/s12881-020-01063-5.
6
X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.一大系列北非患者中的X连锁无丙种球蛋白血症：发病率、临床特征及新型BTK突变
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.
7
Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.东欧和中欧X连锁无丙种球蛋白血症的遗传和人口统计学特征：一项队列研究。
Mol Immunol. 2009 Jun;46(10):2140-6. doi: 10.1016/j.molimm.2009.03.012. Epub 2009 May 5.
8
Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia.墨西哥X连锁无丙种球蛋白血症患者布鲁顿酪氨酸激酶突变的特征分析。
Mol Immunol. 2008 Feb;45(4):1094-8. doi: 10.1016/j.molimm.2007.07.022. Epub 2007 Aug 31.
9
Genetic analysis of patients with defects in early B-cell development.早期B细胞发育缺陷患者的基因分析。
Immunol Rev. 2005 Feb;203:216-34. doi: 10.1111/j.0105-2896.2005.00233.x.
10
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.布鲁顿酪氨酸激酶（BTK）：欧洲X连锁无丙种球蛋白血症患者中的22种新突变和25种复发突变
Hum Mutat. 2004 Mar;23(3):286. doi: 10.1002/humu.9219.