-
1
-
-
0030025612
-
Molecular genetics of human antithrombin deficiency
-
Perry DJ, Carrell RW. Molecular genetics of human antithrombin deficiency. Human Mutation 1996; 7: 7-22.
-
(1996)
Human Mutation
, vol.7
, pp. 7-22
-
-
Perry, D.J.1
Carrell, R.W.2
-
2
-
-
84878664615
-
Covalently linking heparin to antithrombin enhances prothrombinase inhibition on activated platelets
-
Stevic I, Chan HH, Chander A, et al. Covalently linking heparin to antithrombin enhances prothrombinase inhibition on activated platelets. Thromb Haemost 2013; 109: 1016-1024.
-
(2013)
Thromb Haemost
, vol.109
, pp. 1016-1024
-
-
Stevic, I.1
Chan, H.H.2
Chander, A.3
-
3
-
-
75749121473
-
Contribution of exosite occupancy by heparin to the regulation of coagulation proteases by antithrombin
-
Yang L, Manithody C, Qureshi SH, et al. Contribution of exosite occupancy by heparin to the regulation of coagulation proteases by antithrombin. Thromb Haemost 2010; 103: 277-283.
-
(2010)
Thromb Haemost
, vol.103
, pp. 277-283
-
-
Yang, L.1
Manithody, C.2
Qureshi, S.H.3
-
4
-
-
55949104988
-
Inherited antithrombin deficiency: A review
-
Patnaik MM, Moll S. Inherited antithrombin deficiency: a review. Haemophilia 2008; 14: 1229-1239.
-
(2008)
Haemophilia
, vol.14
, pp. 1229-1239
-
-
Patnaik, M.M.1
Moll, S.2
-
5
-
-
0020488026
-
Cloning and expression of the cDNA for human antithrombin III
-
Bock SC, Wion KL, Vehar GA, et al. Cloning and expression of the cDNA for human antithrombin III. Nucleic Acids Res 1982; 10: 8113-8125.
-
(1982)
Nucleic Acids Res
, vol.10
, pp. 8113-8125
-
-
Bock, S.C.1
Wion, K.L.2
Vehar, G.A.3
-
6
-
-
79959984983
-
Normal ranges and genetic variants of antithrombin, protein C and protein S in the general Chinese population. Results of the Chinese Hemostasis Investigation on Natural Anticoagulants Study I Group
-
Zhu T, Ding Q, Bai X, et al. Normal ranges and genetic variants of antithrombin, protein C and protein S in the general Chinese population. Results of the Chinese Hemostasis Investigation on Natural Anticoagulants Study I Group. Haematologica 2011; 96: 1033-1040.
-
(2011)
Haematologica
, vol.96
, pp. 1033-1040
-
-
Zhu, T.1
Ding, Q.2
Bai, X.3
-
7
-
-
84895732697
-
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population
-
Kim HJ, Seo JY, Lee KO, et al. Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. Haematologica 2014; 99: 561-569.
-
(2014)
Haematologica
, vol.99
, pp. 561-569
-
-
Kim, H.J.1
Seo, J.Y.2
Lee, K.O.3
-
8
-
-
0028234593
-
Prevalence of antithrombin deficiency in the healthy population
-
Tait RC, Walker ID, Perry DJ, et al. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol 1994; 87: 106-112.
-
(1994)
Br J Haematol
, vol.87
, pp. 106-112
-
-
Tait, R.C.1
Walker, I.D.2
Perry, D.J.3
-
9
-
-
0032829036
-
Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency
-
van Boven HH, Vandenbroucke JP, Briet E, et al. Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency. Blood 1999; 94: 2590-2594.
-
(1999)
Blood
, vol.94
, pp. 2590-2594
-
-
van Boven, H.H.1
Vandenbroucke, J.P.2
Briet, E.3
-
10
-
-
84893206363
-
Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency
-
Luxembourg B, Pavlova A, Geisen C, et al. Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. Thromb Haemost 2014; 111: 249-257.
-
(2014)
Thromb Haemost
, vol.111
, pp. 249-257
-
-
Luxembourg, B.1
Pavlova, A.2
Geisen, C.3
-
11
-
-
78649524580
-
Laboratory tests for antithrombin deficiency
-
Khor B, Van Cott EM. Laboratory tests for antithrombin deficiency. Am J Hematol 2010; 85: 947-950.
-
(2010)
Am J Hematol
, vol.85
, pp. 947-950
-
-
Khor, B.1
Van Cott, E.M.2
-
12
-
-
84859294001
-
Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy
-
Castaldo G, Cerbone AM, Guida A, et al. Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy. Thromb Haemost 2012; 107: 673-680.
-
(2012)
Thromb Haemost
, vol.107
, pp. 673-680
-
-
Castaldo, G.1
Cerbone, A.M.2
Guida, A.3
-
13
-
-
79955424161
-
Molecular basis of antithrombin deficiency
-
Luxembourg B, Delev D, Geisen C, et al. Molecular basis of antithrombin deficiency. Thromb Haemost 2011; 105: 635-646.
-
(2011)
Thromb Haemost
, vol.105
, pp. 635-646
-
-
Luxembourg, B.1
Delev, D.2
Geisen, C.3
-
14
-
-
0842306997
-
Identification of six novel mutations in type I antithrombin deficient Italian families
-
Di Perna P, Vecchione G, D'Andrea G, et al. Identification of six novel mutations in type I antithrombin deficient Italian families. Haematologica 2004; 89: 117-118.
-
(2004)
Haematologica
, vol.89
, pp. 117-118
-
-
Di Perna, P.1
Vecchione, G.2
D'Andrea, G.3
-
15
-
-
84877703339
-
Prevalence of hereditary antithrombin mutations is higher than estimated in patients with thrombotic events
-
Fischer R, Sachs UJ, Heidinger KS, et al. Prevalence of hereditary antithrombin mutations is higher than estimated in patients with thrombotic events. Blood Coagul Fibrinol 2013; 24: 444-448.
-
(2013)
Blood Coagul Fibrinol
, vol.24
, pp. 444-448
-
-
Fischer, R.1
Sachs, U.J.2
Heidinger, K.S.3
-
16
-
-
84860205974
-
Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population
-
Tang L, Guo T, Yang R, et al. Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population. PLoS One 2012; 7: e35773.
-
(2012)
PLoS One
, vol.7
-
-
Tang, L.1
Guo, T.2
Yang, R.3
-
17
-
-
84873718689
-
Common genetic risk factors for venous thrombosis in the Chinese population
-
Tang L, Wang HF, Lu X, et al. Common genetic risk factors for venous thrombosis in the Chinese population. American journal of human genetics 2013; 92: 177-187.
-
(2013)
American journal of human genetics
, vol.92
, pp. 177-187
-
-
Tang, L.1
Wang, H.F.2
Lu, X.3
-
18
-
-
77449093217
-
Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency
-
Picard V, Chen JM, Tardy B, et al. Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency. Human Genetics 2010; 127: 45-53.
-
(2010)
Human Genetics
, vol.127
, pp. 45-53
-
-
Picard, V.1
Chen, J.M.2
Tardy, B.3
-
19
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nature Methods 2010; 7: 248-249.
-
(2010)
Nature Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
20
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rodelsperger C, Schuelke M, et al. MutationTaster evaluates disease-causing potential of sequence alterations. Nature Methods 2010; 7: 575-576.
-
(2010)
Nature Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
-
21
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
22
-
-
0037459052
-
Structure of beta-antithrombin and the effect of glycosylation on antithrombin's heparin affinity and activity
-
McCoy AJ, Pei XY, Skinner R, et al. Structure of beta-antithrombin and the effect of glycosylation on antithrombin's heparin affinity and activity. J Mol Biol 2003; 326: 823-833.
-
(2003)
J Mol Biol
, vol.326
, pp. 823-833
-
-
McCoy, A.J.1
Pei, X.Y.2
Skinner, R.3
-
23
-
-
14144253583
-
Characterization of two novel mutations of the antithrombin gene observed in Japanese thrombophilic patients
-
Kurihara M, Watanabe K, Inoue S, et al. Characterization of two novel mutations of the antithrombin gene observed in Japanese thrombophilic patients. Thromb Res 2005; 115: 351-358.
-
(2005)
Thromb Res
, vol.115
, pp. 351-358
-
-
Kurihara, M.1
Watanabe, K.2
Inoue, S.3
-
24
-
-
84884728920
-
Molecular basis of protein S deficiency in China
-
Tang L, Jian XR, Hamasaki N, et al. Molecular basis of protein S deficiency in China. Am J Hematol 2013; 88: 899-905.
-
(2013)
Am J Hematol
, vol.88
, pp. 899-905
-
-
Tang, L.1
Jian, X.R.2
Hamasaki, N.3
-
25
-
-
78549236460
-
Usefulness of antithrombin deficiency phenotypes for risk assessment of venous thromboembolism: Type I deficiency as a strong risk factor for venous thromboembolism
-
Mitsuguro M, Sakata T, Okamoto A, et al. Usefulness of antithrombin deficiency phenotypes for risk assessment of venous thromboembolism: type I deficiency as a strong risk factor for venous thromboembolism. Intern J Hematol 2010; 92: 468-473.
-
(2010)
Intern J Hematol
, vol.92
, pp. 468-473
-
-
Mitsuguro, M.1
Sakata, T.2
Okamoto, A.3
-
26
-
-
34248350430
-
Antithrombin Cambridge II (A384S): An underestimated genetic risk factor for venous thrombosis
-
Corral J, Hernandez-Espinosa D, Soria JM, et al. Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis. Blood 2007; 109: 4258-4263.
-
(2007)
Blood
, vol.109
, pp. 4258-4263
-
-
Corral, J.1
Hernandez-Espinosa, D.2
Soria, J.M.3
-
27
-
-
62549106201
-
Antithrombin Cambridge II (A384S) supports a role for antithrombin deficiency in arterial thrombosis
-
Roldan V, Ordonez A, Marin F, et al. Antithrombin Cambridge II (A384S) supports a role for antithrombin deficiency in arterial thrombosis. Thromb Haemost 2009; 101: 483-486.
-
(2009)
Thromb Haemost
, vol.101
, pp. 483-486
-
-
Roldan, V.1
Ordonez, A.2
Marin, F.3
-
28
-
-
18744429925
-
Antithrombin cambridge II (Ala384Ser): Clinical, functional and haplotype analysis of 18 families
-
Perry DJ, Daly ME, Tait RC, et al. Antithrombin cambridge II (Ala384Ser): clinical, functional and haplotype analysis of 18 families. Thromb Haemost 1998; 79: 249-253.
-
(1998)
Thromb Haemost
, vol.79
, pp. 249-253
-
-
Perry, D.J.1
Daly, M.E.2
Tait, R.C.3
-
29
-
-
0022622201
-
Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity
-
Chang JY, Tran TH. Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity. J Biol Chem 1986; 261: 1174-1176.
-
(1986)
J Biol Chem
, vol.261
, pp. 1174-1176
-
-
Chang, J.Y.1
Tran, T.H.2
-
30
-
-
84885347863
-
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: Clinical picture
-
Puurunen M, Salo P, Engelbarth S, et al. Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. J Thromb Haemost 2013; 11: 1844-1849.
-
(2013)
J Thromb Haemost
, vol.11
, pp. 1844-1849
-
-
Puurunen, M.1
Salo, P.2
Engelbarth, S.3
-
31
-
-
0025009868
-
Antithrombin Dublin (-3 Val-Glu): An N-terminal variant which has an aberrant signal peptidase cleavage site
-
Daly M, Bruce D, Perry DJ, et al. Antithrombin Dublin (-3 Val-Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site. FEBS letters 1990; 273: 87-90.
-
(1990)
FEBS letters
, vol.273
, pp. 87-90
-
-
Daly, M.1
Bruce, D.2
Perry, D.J.3
-
32
-
-
0037085777
-
Discrepancy between antithrombin activity methods revealed in Antithrombin Stockholm: Do factor Xa-based methods overestimate antithrombin activity in some patients?
-
Ungerstedt JS, Schulman S, Egberg N, et al. Discrepancy between antithrombin activity methods revealed in Antithrombin Stockholm: do factor Xa-based methods overestimate antithrombin activity in some patients? Blood 2002; 99: 2271-2272.
-
(2002)
Blood
, vol.99
, pp. 2271-2272
-
-
Ungerstedt, J.S.1
Schulman, S.2
Egberg, N.3
-
33
-
-
84881313980
-
Great discrepancy in antithrombin activity measured using five commercially available functional assays
-
Javela K, Engelbarth S, Hiltunen L, et al. Great discrepancy in antithrombin activity measured using five commercially available functional assays. Thromb Res 2013; 132: 132-137.
-
(2013)
Thromb Res
, vol.132
, pp. 132-137
-
-
Javela, K.1
Engelbarth, S.2
Hiltunen, L.3
-
34
-
-
79954756912
-
The phenotypic and genetic assessment of antithrombin deficiency
-
Cooper PC, Coath F, Daly ME, et al. The phenotypic and genetic assessment of antithrombin deficiency. Intern J Lab Hematol 2011; 33: 227-237.
-
(2011)
Intern J Lab Hematol
, vol.33
, pp. 227-237
-
-
Cooper, P.C.1
Coath, F.2
Daly, M.E.3
-
35
-
-
34247560260
-
Detecting antithrombin deficiency may be a difficult task-more than one test is necessary
-
Kristensen SR, Rasmussen B, Pedersen S, et al. Detecting antithrombin deficiency may be a difficult task-more than one test is necessary. J Thromb Haemost 2007; 5: 617-618.
-
(2007)
J Thromb Haemost
, vol.5
, pp. 617-618
-
-
Kristensen, S.R.1
Rasmussen, B.2
Pedersen, S.3
-
36
-
-
84864343510
-
Deficiencies of antithrombin, protein C and protein S-practical experience in genetic analysis of a large patient cohort
-
Caspers M, Pavlova A, Driesen J, et al. Deficiencies of antithrombin, protein C and protein S-practical experience in genetic analysis of a large patient cohort. Thromb Haemost 2012; 108: 247-257.
-
(2012)
Thromb Haemost
, vol.108
, pp. 247-257
-
-
Caspers, M.1
Pavlova, A.2
Driesen, J.3
-
37
-
-
33646268182
-
Screening for thrombophilia in high-risk situations: Systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study
-
Wu O, Robertson L, Twaddle S, et al. Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study. Health Technol Assess 2006; 10: 1-110.
-
(2006)
Health Technol Assess
, vol.10
, pp. 1-110
-
-
Wu, O.1
Robertson, L.2
Twaddle, S.3
|