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Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1

หน่วยงาน Nanyang Technological University, Singapore

รายละเอียด

ชื่อเรื่อง : Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1
นักวิจัย : Guan, Siyu , Tan, Suet-Mien , Li, Yan , Torres, Jaume , Uzel, Gulbu , Xiang, Liming , Law, S.K. Alex
คำค้น : DRNTU::Science::Biological sciences::Molecular biology
หน่วยงาน : Nanyang Technological University, Singapore
ผู้ร่วมงาน : -
ปีพิมพ์ : 2558
อ้างอิง : Guan, S., Tan, S.-M., Li, Y., Torres, J., Uzel, G., Xiang, L., et al. (2015). Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1. Blood cells, molecules, and diseases, 54(2), 177-182. , 1079-9796 , http://hdl.handle.net/10220/25195 , http://dx.doi.org/10.1016/j.bcmd.2014.11.005
ที่มา : -
ความเชี่ยวชาญ : -
ความสัมพันธ์ : Blood cells, molecules, and diseases
ขอบเขตของเนื้อหา : -
บทคัดย่อ/คำอธิบาย :

Leukocyte adhesion deficiency 1 (LAD-1) is caused by defects in the β2 integrin subunit. We studied 18 missense mutations, 14 of which fail to support the surface expression of the β2 integrins. Integrins with the β2-G150D mutation fail to bind ligands, possibly due to the failure of the α1 segment of the βI domain to assume an α-helical structure. Integrins with the β2-G716A mutation are not maintained in their resting states, and the patient has the severe phenotype of LAD-1. The β2-S453N and β2-P648L mutants support the expression of integrins and adhesion functions. They should be re-classified as polymorphic variants.

บรรณานุกรม :
Guan, Siyu , Tan, Suet-Mien , Li, Yan , Torres, Jaume , Uzel, Gulbu , Xiang, Liming , Law, S.K. Alex . (2558). Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1.
    กรุงเทพมหานคร : Nanyang Technological University, Singapore.
Guan, Siyu , Tan, Suet-Mien , Li, Yan , Torres, Jaume , Uzel, Gulbu , Xiang, Liming , Law, S.K. Alex . 2558. "Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1".
    กรุงเทพมหานคร : Nanyang Technological University, Singapore.
Guan, Siyu , Tan, Suet-Mien , Li, Yan , Torres, Jaume , Uzel, Gulbu , Xiang, Liming , Law, S.K. Alex . "Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1."
    กรุงเทพมหานคร : Nanyang Technological University, Singapore, 2558. Print.
Guan, Siyu , Tan, Suet-Mien , Li, Yan , Torres, Jaume , Uzel, Gulbu , Xiang, Liming , Law, S.K. Alex . Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1. กรุงเทพมหานคร : Nanyang Technological University, Singapore; 2558.