Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action
Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action
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凝血因子 XIIIA 亚基错义突变影响因子 XIII 作用各个步骤的结构和功能
DOI：
10.1002/humu.23041
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发表时间：
2016
期刊：
影响因子：
3.9
通讯作者：
J. Oldenburg
中科院分区：
文献类型：
--
作者：
A. Thomas;A. Biswas;J. Dodt;H. Philippou;E. Hethershaw;H. Ensikat;V. Ivaškevičius;J. Oldenburg
Inherited defects of coagulation Factor XIII (FXIII) can be categorized into severe and mild forms based on their genotype and phenotype. Heterozygous mutations occurring in F13A1 and F13B genes causing mild FXIII deficiency have been reported only in the last few years primarily because the mild FXIII deficiency patients are often asymptomatic unless exposed to some kind of a physical trauma. However, unlike mutations causing severe FXIII deficiency, many of these mutations have not been comprehensively characterized based on expression studies. In our current article, we have transiently expressed 16 previously reported missense mutations detected in the F13A1 gene of patients with mild FXIII deficiency and analyzed their respective expression phenotype. Complimentary to expression analysis, we have used in silico analysis to understand and explain some of the in vitro findings. The expression phenotype has been evaluated with a number of expression phenotype determining assays. We observe that the mutations influence different aspects of FXIII function and can be functionally categorized on the basis of their expression phenotype. We identified mutations which even in heterozygous form would have strong impact on the functional status of the protein (namely mutations p.Arg716Gly, p.Arg704Gln, p.Gln602Lys, p.Leu530Pro, p.His343Tyr, p.Pro290Arg, and p.Arg172Gln).
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人类因子XIII：纤维蛋白稳定因子。
DOI：
--
发表时间：
1980
期刊：
Progress in hemostasis and thrombosis
影响因子：
--
作者：
Lorand,L;Losowsky,MS;Miloszewski,KJ
通讯作者：
Miloszewski,KJ
FXIII-A(2) 的凝血酶裂解暴露的激活肽裂缝包含纤维蛋白原 α 链的识别位点。
影响因子：
20.3
作者：
Smith,KerrieA;Pease,RichardJ;Avery,CraigA;Brown,JaneM;Adamson,PenelopeJ;Cooke,EstherJ;Neergaard-Petersen,Søs;Cordell,PaulA;Ariëns,RobertAS;Fishwick,ColinWG;Philippou,Helen;Grant,PeterJ
通讯作者：
Grant,PeterJ
影响因子：
2.9
作者：
Kozakov, Dima;Beglov, Dmitri;Bohnuud, Tanggis;Mottarella, Scott E.;Xia, Bing;Hall, David R.;Vajda, Sandor
通讯作者：
Vajda, Sandor
钙结合触发的活性凝血因子XIII的结构：下一代抗凝剂设计的基础
影响因子：
--
作者：
Stieler M;Weber J;Hils M;Kolb P;Heine A;Büchold C;Pasternack R;Klebe G
通讯作者：
Klebe G
影响因子：
2.9
作者：
ICHINOSE, A;MCMULLEN, BA;DAVIE, EW
通讯作者：
DAVIE, EW