논문KCI 등재
The First Korean Case of High-Molecular-Weight Kininogen Deficiency, With a Novel Variant, c.488delG, in the KNG1 Gene
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초록
Dear Editor, High-molecular-weight kininogen (HK) circulates bound to prekallikrein (PK), which can bind to negatively charged phospholipids. It is a non-enzymatic cofactor for kallikrein binding to negatively charged phospholipids. Kallikrein activates factor XII, which then activates factor XI, leading to activation of the intrinsic coagulation pathway [1].
Abstract
Dear Editor, High-molecular-weight kininogen (HK) circulates bound to prekallikrein (PK), which can bind to negatively charged phospholipids. It is a non-enzymatic cofactor for kallikrein binding to negatively charged phospholipids. Kallikrein activates factor XII, which then activates factor XI, leading to activation of the intrinsic coagulation pathway [1].
참고문헌 (10)
- Schmaier AH, "Antithrombotic potential of the contact activation pathway", Curr Opin Hematol, 23, pp.445~452 (2016)
- Asmis LM, "Prekallikrein deficiency: the characteristic normalization of the severely prolonged aPTT following increased preincubation time is due to autoactivation of factor XII", Thromb Res, 105, pp.463~470 (2002)
- Fukushima N, "A novel frameshift mutation in exon 4 causing a deficiency of high-molecular-weight kininogen in a patient with splenic infarction", Intern Med, 53, pp.253~257 (2014)
- Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Barco S, "Detection and differential diagnosis of PK deficiency: genetic study of new families and systematic review of the literature", Hämostaseologie, 39, pp.S1~S92 (2019)
- Davidson SJ, "High molecular weight kininogen deficiency : a patient who underwent cardiac surgery", Thromb Haemost, 85, pp.195~197 (2001)
- Krijanovski Y, "Characterization of molecular defects of Fitzgerald trait and another novel high-molecular-weight kininogen-deficient patient: insights into structural requirements for kininogen expression", Blood, 101, pp.4430~4436 (2003)
- Cheung PP, "Genetic basis of total kininogen deficiency in Williams’ trait", J Biol Chem, 268, pp.23361~23365 (1993)
- Merkulov S, "Deletion of murine kininogen gene 1 (mKng1) causes loss of plasma kininogen and delays thrombosis", Blood, 111, pp.1274~1281 (2008)
- Langhauser F, "Kininogen deficiency protects from ischemic neurodegeneration in mice by reducing thrombosis, blood-brain barrier damage, and inflammation", Blood, 120, pp.4082~4092 (2012)
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