Investigation on abnormal gene loci of a Chinese pedigree with hereditary combined deficiency of blood coagulation factor XI, XII, and protein S.
暂无分享,去创建一个
C. Xu | Ze-wen Zhang | W. Yu | X. Xu | Jun Yin | Jie-Song Xu | Daming Xu | Jing-Xing Yi | J. Qiu | Chunling He
[1] T. Renné,et al. Coagulation factor XII in thrombosis and inflammation. , 2018, Blood.
[2] B. Dahlbäck. Vitamin K–Dependent Protein S: Beyond the Protein C Pathway , 2017, Seminars in Thrombosis and Hemostasis.
[3] T. Renné,et al. Contact system revisited: an interface between inflammation, coagulation, and innate immunity , 2016, Journal of thrombosis and haemostasis : JTH.
[4] K. Meijer,et al. A novel c.290G>A mutation in the Factor 11 gene in a Dutch Caucasian family with a Factor XI deficiency. , 2015, Thrombosis research.
[5] A. Mumford,et al. Guideline for the diagnosis and management of the rare coagulation disorders , 2014, British journal of haematology.
[6] T. Renné,et al. Platelet Polyphosphates Are Proinflammatory and Procoagulant Mediators In Vivo , 2009, Cell.
[7] U. Seligsohn. Factor XI deficiency in humans , 2009, Journal of thrombosis and haemostasis : JTH.
[8] J. van der Meer,et al. Protein S deficiency: a clinical perspective , 2008, Haemophilia : the official journal of the World Federation of Hemophilia.
[9] B. Dahlbäck,et al. Re-evaluation of the role of the protein S-C4b binding protein complex in activated protein C-catalyzed factor Va-inactivation. , 2008, Blood.
[10] T. Renné,et al. Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis , 2006, The Journal of experimental medicine.
[11] James H Morrissey,et al. Polyphosphate modulates blood coagulation and fibrinolysis. , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[12] F. Marín,et al. Synergistic association between hypercholesterolemia and the C46T factor XII polymorphism for developing premature myocardial infarction , 2005, Thrombosis and Haemostasis.
[13] M. Margaglione,et al. Molecular diversity and thrombotic risk in protein S deficiency: The PROSIT study , 2005, Human mutation.
[14] H. Kluin-Nelemans,et al. Difference in absolute risk of venous and arterial thrombosis between familial protein S deficiency type I and type III. Results from a family cohort study to assess the clinical impact of a laboratory test‐based classification , 2005, British journal of haematology.
[15] T. Dang,et al. Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. , 2004, Blood.
[16] S. Humphries,et al. Association of the factor XII 46C>T polymorphism with risk of coronary heart disease (CHD) in the WOSCOPS study. , 2002, Atherosclerosis.
[17] F. Bauduer,et al. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. , 2002, Blood.
[18] J. Lavinha,et al. Molecular Genetic Analysis of Factor XI Deficiency: Identification of Five Novel Gene Alterations and the Origin of Type II Mutation in Portuguese Families , 2000, Thrombosis and Haemostasis.
[19] J. Meijers,et al. Role of blood coagulation factor XI in downregulation of fibrinolysis , 2000, Current opinion in hematology.
[20] D. Martincic,et al. Factor XI messenger RNA in human platelets. , 1999, Blood.
[21] M. Mitchell,et al. Identification of a novel mutation in a non‐Jewish factor XI deficient kindred , 1999, British journal of haematology.
[22] N. Hamasaki,et al. A common genetic polymorphism (46 C to T substitution) in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level. , 1998, Blood.
[23] B. Lämmle,et al. Mutations in the human factor XII gene. , 1997, Blood.
[24] M. Mittelman,et al. The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin. , 1997, Blood.
[25] A. Chetrit,et al. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. , 1995, Blood.
[26] D. Green,et al. Protein S deficiency in middle‐aged women with stroke , 1992, Neurology.
[27] E. Davie,et al. Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. , 1992, Blood.
[28] K. Fujikawa,et al. Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains. , 1991, Biochemistry.
[29] S. Kawabata,et al. Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[30] E. Davie,et al. Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[31] R. MacGillivray,et al. Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region. , 1987, The Journal of biological chemistry.
[32] O. Ratnoff,et al. A familial hemorrhagic trait associated with a deficiency of a clot-promoting fraction of plasma. , 1955, The Journal of clinical investigation.
[33] Chan Li,et al. An update on factor XI structure and function. , 2018, Thrombosis research.
[34] T. Renné,et al. Factor XII as a Therapeutic Target in Thromboembolic and Inflammatory Diseases , 2017, Arteriosclerosis, thrombosis, and vascular biology.
[35] V. Pilli,et al. The Journey of Protein S from an Anticoagulant to a Signaling Molecule. , 2016, JSM biochemistry and molecular biology.
[36] E. Neshkova,et al. Contact System. New Concepts on Activation Mechanisms and Bioregulatory Functions , 2004, Biochemistry (Moscow).