Heterozygous ITGA2B Phe1024 Deletion Associated with Abnormal αIIbβ3 Function in a Patient with Congenital Thrombocytopenia

被引：0

作者：

Wang, Bin ^{[1
]}

Tang, Ning ^{[1
]}

Hou, Hongyan ^{[1
]}

Chen, Junkun ^{[1
]}

Wang, Xiong

Li, Jiaoyuan ^{[1
,2
]}

机构：

[1] Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Lab Med, Wuhan, Peoples R China

[2] Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Lab Med, 1095 Jiefang Ave, Wuhan 430030, Peoples R China

来源：

SEMINARS IN THROMBOSIS AND HEMOSTASIS | 2024年

关键词：

GLANZMANN THROMBASTHENIA; MACROTHROMBOCYTOPENIA; ACTIVATION; VARIANTS;

D O I：

10.1055/s-0044-1785655

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页数：6

共 15 条

[1] GLANZMANN THROMBASTHENIA AND CONGENITAL THROMBOCYTOPENIA: ITGA2B AND ITGB3 VARIANTS
Nagoshi, Rintaro
Sakamoto, Atsushi
Uchiyama, Toru
Iguchi, Akihiro
Kunishima, Shinji
Kaname, Tadashi
Ishiguro, Akira
PEDIATRIC BLOOD & CANCER, 2024, 71 : S32 - S32
[2] A heterozygous ITGA2B R995W mutation causes constitutive activation of the αIIb/β3 receptor and results in congenital macrothrombocytopenia
Kunishima, S.
Kashiwagi, H.
Ito, Y.
Fujimori, Y.
Miyajima, Y.
Takamatsu, Y.
Suzumiya, J.
Tomiyama, Y.
Saito, H.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2009, 7 : 960 - 960
[3] Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia
ZHENG JiayongJIN YanhuiZHU YonglinJIN PeipeiZHANG Deting and JIN Zibing Department of Laboratory MedicineThird Peoples Hospital of WenzhouWenzhouZhejiang China Wenzhou Third Clinical Institute of Wenzhou Medical CollegeWenzhouZhejiang China Diagnosis Center of Clinical LaboratoryFirst Affiliated Hospitalof WenzhouWenzhouZhejiang China Department of Clinical TransfusionRuijin Hospital Medical College of Shanghai Jiao Tong UniversityShanghai China Eye Ear Nose and Throat Hospital of Fudan UniversityShanghai China
中华医学杂志（英文版）, 2010, (11) : 1397 - 1401
[4] Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia
Zheng Jia-yong
Jn Yan-hui
Zhu Yong-lin
Jin Pei-pei
Zhang De-ting
Jin Zi-bing
CHINESE MEDICAL JOURNAL, 2010, 123 (11) : 1397 - 1401
[5] Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia
Kunishima, Shinji
Kashiwagi, Hirokazu
Otsu, Makoto
Takayama, Naoya
Eto, Koji
Onodera, Masafumi
Miyajima, Yuji
Takamatsu, Yasushi
Suzumiya, Junji
Matsubara, Kousaku
Tomiyama, Yoshiaki
Saito, Hidehiko
BLOOD, 2011, 117 (20) : 5479 - 5484
[6] ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia
Nurden, Alan T.
Pillois, Xavier
PLATELETS, 2018, 29 (01) : 98 - 101
[7] αIIbβ3 Integrin: New Allelic Variants in Glanzmann Thrombasthenia, Effects on ITGA2B and ITGB3 mRNA Splicing, Expression, and Structure-Function
Jallu, Vincent
Dusseaux, Mathilde
Panzer, Simon
Torchet, Marie-Francoise
Hezard, Nathalie
Gaudemand, Jenny
de Brevern, Alexandre G.
Kaplan, Cecile
HUMAN MUTATION, 2010, 31 (03) : 237 - 246
[8] Characterization of six alterations in ITGA2B and ITGB3 associated with glanzmann's thrombasthenia
Sabi, E.
Leo, V. C.
Al-Musbahi, A.
Al-Marwani, A.
Makris, M.
Daly, M. E.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2015, 13 : 938 - 938
[9] Identification of ITGA2B and ITGB3 Single-Nucleotide Polymorphisms and Their Influences on the Platelet Function
Xiang, Qian
Ji, Shun-Dong
Zhang, Zhuo
Zhao, Xia
Cui, Yi-Min
BIOMED RESEARCH INTERNATIONAL, 2016, 2016
[10] Molecular diversity of Glanzmann thrombasthenia in southern India:: New insights into mRNA splicing and structure-function correlations of αIIbβ3 integrin (ITGA2B, ITGB3)
Peretz, H
Rosenberg, N
Landau, M
Usher, S
Nelson, EJR
Mor-Cohen, R
French, DL
Mitchell, BW
Nair, SC
Chandy, M
Coller, BS
Srivastava, A
Seligsohn, U
HUMAN MUTATION, 2006, 27 (04) : 359 - 369

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