본문 바로가기
KERD
논문KCI 등재

The First Korean Case of High-Molecular-Weight Kininogen Deficiency, With a Novel Variant, c.488delG, in the KNG1 Gene

1

조회

0

다운로드

0

인용

0

참고문헌

주제분류병리학

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)

  1. Schmaier AH, "Antithrombotic potential of the contact activation pathway", Curr Opin Hematol, 23, pp.445~452 (2016)
  2. 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)
  3. 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)
  4. 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)
  5. 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)
  6. Davidson SJ, "High molecular weight kininogen deficiency : a patient who underwent cardiac surgery", Thromb Haemost, 85, pp.195~197 (2001)
  7. 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)
  8. Cheung PP, "Genetic basis of total kininogen deficiency in Williams’ trait", J Biol Chem, 268, pp.23361~23365 (1993)
  9. Merkulov S, "Deletion of murine kininogen gene 1 (mKng1) causes loss of plasma kininogen and delays thrombosis", Blood, 111, pp.1274~1281 (2008)
  10. 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)

관련 논문AI추천

Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency김주원, 유종하, 이경아, 최성준, 최종락대한진단검사의학회 · Annals of Laboratory Medicine2014 · 제34권 제4호The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T)구자윤, 김현경, 류소희, 한두희, 홍경택대한진단검사의학회 · Annals of Laboratory Medicine2019 · 제39권 제2호A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency김화영, 김희진, 이종호, 조희순, 현명수대한진단검사의학회 · Annals of Laboratory Medicine2011 · 제31권 제4호Frequency of Pro475Ser Polymorphism of ADAMTS13 Gene and Its Association with ADAMTS-13 Activity in the Korean Population강명서, 김남근, 김혜진, 오도연, 이선주, 장문주, 정소영연세대학교의과대학 · Yonsei Medical Journal2008 · 제49권 제3호F5 유전자에서 새로운 변이를 포함한 복합 이형 접합 변이 1예 보고Kim Namhee, Kim Sung-Hyun, Park Suji대한진단검사의학회 · Laboratory Medicine Online2024 · 제14권 제2호유전성 혈관부종의 진단과 치료: 전문가 의견서강민규, 강성윤, 강혜련, 권혁수, 김건우, 김세훈, 김주희, 박경희, 박소영, 박혜정, 서동인, 손경희, 윤선영, 이동훈, 정재우대한 소아알레르기 호흡기학회 · Allergy Asthma & Respiratory Disease2022 · 제10권 제2호

이 간행물의 다른 논문 (15건)