| 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.
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