-
1
-
-
0019579602
-
Antithrombin III deficiency and thromboembolism
-
Thaler E, Lechner K. Antithrombin III deficiency and thromboembolism. Clin Haematol. 1981;10(2):369-390.
-
(1981)
Clin Haematol
, vol.10
, Issue.2
, pp. 369-390
-
-
Thaler, E.1
Lechner, K.2
-
2
-
-
47249084343
-
Advances in understanding pathogenic mechanisms of thrombophilic disorders
-
Dahlback B. Advances in understanding pathogenic mechanisms of thrombophilic disorders. Blood. 2008;112(1):19-27.
-
(2008)
Blood
, vol.112
, Issue.1
, pp. 19-27
-
-
Dahlback, B.1
-
3
-
-
0031042986
-
Antithrombin Mutation Database: 2nd (1997) Update: For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
-
Lane DA, Bayston T, Olds RJ, et al. Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost. 1997;77(1):197-211. (Pubitemid 27064991)
-
(1997)
Thrombosis and Haemostasis
, vol.77
, Issue.1
, pp. 197-211
-
-
Lane, D.A.1
Bayston, T.2
Olds, R.J.3
Fitches, A.C.4
Cooper, D.N.5
Millar, D.S.6
Jochmans, K.7
Perry, D.J.8
Okajima, K.9
Thein, S.L.10
Emmerich, J.11
-
4
-
-
0033807066
-
Complete antithrombin deficiency in mice results in embryonic lethality
-
Ishiguro K, Kojima T, Kadomatsu K, et al. Complete antithrombin deficiency in mice results in embryonic lethality. J Clin Invest. 2000;106(7):873-878.
-
(2000)
J Clin Invest
, vol.106
, Issue.7
, pp. 873-878
-
-
Ishiguro, K.1
Kojima, T.2
Kadomatsu, K.3
-
5
-
-
0021362049
-
Antithrombin III Toyama: Replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability
-
Koide T, Odani S, Takahashi K, Ono T, Sakuragawa N. Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. Proc Natl Acad Sci U S A. 1984;81(2):289-293. (Pubitemid 14185715)
-
(1984)
Proceedings of the National Academy of Sciences of the United States of America
, vol.81
, Issue.2 I
, pp. 289-293
-
-
Koide, T.1
Odani, S.2
Takahashi, K.3
-
6
-
-
34447128216
-
Hemizygous antithrombin-deficiency (Budapest III) in a newborn presenting with a thrombosis at birth [2]
-
DOI 10.1111/j.1365-2141.2007.06662.x
-
Kristensen SR, Kaehne M, Petersen NE. Hemizygous antithrombin-deficiency (Budapest III) in a newborn presenting with a thrombosis at birth. Br J Haematol. 2007;138(3):397-398. (Pubitemid 47035394)
-
(2007)
British Journal of Haematology
, vol.138
, Issue.3
, pp. 397-398
-
-
Kristensen, S.R.1
Kaehne, M.2
Petersen, N.E.3
-
7
-
-
0034757282
-
Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism
-
Kuhle S, Lane DA, Jochmanns K, et al. Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism. Thromb Haemost. 2001;86(4):1007-1011. (Pubitemid 32975825)
-
(2001)
Thrombosis and Haemostasis
, vol.86
, Issue.4
, pp. 1007-1011
-
-
Kuhle, S.1
Lane, D.A.2
Jochmanns, K.3
Male, C.4
Quehenberger, P.5
Lechner, K.6
Pabinger, I.7
-
8
-
-
0036872229
-
Heparin activates antithrombin anticoagulant function by generating new interaction sites (exosites) for blood clotting proteinases
-
DOI 10.1016/S1050-1738(02)00183-4, PII S1050173802001834
-
Olson ST, Chuang YJ. Heparin activates antithrombin anticoagulant function by generating new interaction sites (exosites) for blood clotting proteinases. Trends Cardiovasc Med. 2002;12(8):331-338. (Pubitemid 36092123)
-
(2002)
Trends in Cardiovascular Medicine
, vol.12
, Issue.8
, pp. 331-338
-
-
Olson, S.T.1
Chuang, Y.-J.2
-
9
-
-
0033520102
-
The role of Arg46 and Arg47 of antithrombin in heparin binding
-
Arocas V, Bock SC, Olson ST, Bjork I. The role of Arg46 and Arg47 of antithrombin in heparin binding. Biochemistry. 1999;38(31):10196-10204.
-
(1999)
Biochemistry
, vol.38
, Issue.31
, pp. 10196-10204
-
-
Arocas, V.1
Bock, S.C.2
Olson, S.T.3
Bjork, I.4
-
10
-
-
0026572495
-
Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F
-
Olds RJ, Lane DA, Boisclair M, et al. Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F. FEBS Lett. 1992;300(3):241-246.
-
(1992)
FEBS Lett
, vol.300
, Issue.3
, pp. 241-246
-
-
Olds, R.J.1
Lane, D.A.2
Boisclair, M.3
-
11
-
-
0022622201
-
Antithrombin III Basel. Identification of a pro-leu substitution in a hereditary abnormal antithrombin with impaired heparing 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(3):1174-1176. (Pubitemid 16103923)
-
(1986)
Journal of Biological Chemistry
, vol.261
, Issue.3
, pp. 1174-1176
-
-
Chang, J.Y.1
Tran, T.H.2
-
12
-
-
13244295561
-
Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous thrombosis
-
DOI 10.1111/j.1538-7836.2004.00749.x
-
Corral J, Huntington JA, Gonzalez-Conejero R, et al. Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous thrombosis. J Thromb Haemost. 2004(6);2:931-939. (Pubitemid 40185741)
-
(2004)
Journal of Thrombosis and Haemostasis
, vol.2
, Issue.6
, pp. 931-939
-
-
Corral, J.1
Huntington, J.A.2
Gonzalez-Conejero, R.3
Mushunje, A.4
Navarro, M.5
Marco, P.6
Vicente, V.7
Carrell, R.W.8
-
13
-
-
13244269951
-
Latent antithrombin and its detection, formation and turnover in the circulation
-
DOI 10.1111/j.1538-7836.2004.01047.x
-
Mushunje A, Evans G, Brennan SO, Carrell RW, Zhou A. Latent antithrombin and its detection, formation and turnover in the circulation. J Thromb Haemost. 2004;2(12):2170-2177. (Pubitemid 40185778)
-
(2004)
Journal of Thrombosis and Haemostasis
, vol.2
, Issue.12
, pp. 2170-2177
-
-
Mushunje, A.1
Evans, G.2
Brennan, S.O.3
Carrell, R.W.4
Zhou, A.5
-
14
-
-
60849096635
-
The critical role of hinge-region expulsion in the induced-fit heparin binding mechanism of antithrombin
-
Langdown J, Belzar KJ, Savory WJ, Baglin TP, Huntington JA. The critical role of hinge-region expulsion in the induced-fit heparin binding mechanism of antithrombin. J Mol Biol. 2009;386(5):1278-1289.
-
(2009)
J Mol Biol
, vol.386
, Issue.5
, pp. 1278-1289
-
-
Langdown, J.1
Belzar, K.J.2
Savory, W.J.3
Baglin, T.P.4
Huntington, J.A.5
-
15
-
-
77956032246
-
Antithrombin Murcia (K241E) causing antithrombin deficiency: A possible role for altered glycosylation
-
Martinez-Martinez I, Ordonez A, Navarro-Fernandez J, et al. Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation. Haematologica. 2010;95(8):1358-1365.
-
(2010)
Haematologica
, vol.95
, Issue.8
, pp. 1358-1365
-
-
Martinez-Martinez, I.1
Ordonez, A.2
Navarro-Fernandez, J.3
-
16
-
-
68349146112
-
Understanding synergy in genetic interactions
-
Perez-Perez JM, Candela H, Micol JL. Understanding synergy in genetic interactions. Trends Genet. 2009;25(8):368-376.
-
(2009)
Trends Genet
, vol.25
, Issue.8
, pp. 368-376
-
-
Perez-Perez, J.M.1
Candela, H.2
Micol, J.L.3
-
17
-
-
7244253015
-
Pharmacologic rescue of conformationally-defective proteins: Implications for the treatment of human disease
-
DOI 10.1111/j.1600-0854.2004.00232.x
-
Ulloa-Aguirre A, Janovick JA, Brothers SP, Conn PM. Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease. Traffic. 2004;5(11):821-837. (Pubitemid 39433553)
-
(2004)
Traffic
, vol.5
, Issue.11
, pp. 821-837
-
-
Ulloa-Aguirre, A.1
Janovick, J.A.2
Brothers, S.P.3
Conn, P.M.4
-
18
-
-
79551642747
-
Duchenne/Becker muscular dystrophy in the family: Have potential carriers been tested at a molecular level?
-
Helderman-van den EndenAT, van den Bergen JC, Breuning MH, et al. Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level? Clin Genet. 2011;79(3):236-242.
-
(2011)
Clin Genet
, vol.79
, Issue.3
, pp. 236-242
-
-
Helderman-van Den Enden, A.T.1
Van Den Bergen, J.C.2
Breuning, M.H.3
-
19
-
-
0035956959
-
Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells
-
DOI 10.1073/pnas.051609898
-
Gregory JJ Jr, Wagner JE, Verlander PC, et al. Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. Proc Natl Acad Sci U S A. 2001;98(5):2532-2537. (Pubitemid 32209516)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.5
, pp. 2532-2537
-
-
Gregory Jr., J.J.1
Wagner, J.E.2
Verlander, P.C.3
Levran, O.4
Batish, S.D.5
Eide, C.R.6
Steffenhagen, A.7
Hirsch, B.8
Auerbach, A.D.9
-
20
-
-
70449584757
-
Mosaics and haemophilia
-
Kasper CK, Buzin CH. Mosaics and haemophilia. Haemophilia. 2009;15(6):1181-1186.
-
(2009)
Haemophilia
, vol.15
, Issue.6
, pp. 1181-1186
-
-
Kasper, C.K.1
Buzin, C.H.2
-
21
-
-
12344250822
-
Function of alternative splicing
-
DOI 10.1016/j.gene.2004.10.022, PII S037811190400650X
-
Stamm S, Ben-Ari S, Rafalska I, et al. Function of alternative splicing. Gene. 2005;344:1-20. (Pubitemid 40126788)
-
(2005)
Gene
, vol.344
, pp. 1-20
-
-
Stamm, S.1
Ben-Ari, S.2
Rafalska, I.3
Tang, Y.4
Zhang, Z.5
Toiber, D.6
Thanaraj, T.A.7
Soreq, H.8
-
22
-
-
0033616129
-
Oligosaccharyltransferase: A complex multisubunit enzyme of the endoplasmic reticulum
-
DOI 10.1006/bbrc.1999.1886
-
Yan Q, Lennarz WJ. Oligosaccharyltransferase: a complex multisubunit enzyme of the endoplasmic reticulum. Biochem Biophys Res Commun. 1999;266(3):684-689. (Pubitemid 30042493)
-
(1999)
Biochemical and Biophysical Research Communications
, vol.266
, Issue.3
, pp. 684-689
-
-
Yan, Q.1
Lennarz, W.J.2
-
23
-
-
0037459052
-
Structure of beta-antithrombin and the effect of glycosylation on antithrombin's heparin affinity and activity
-
DOI 10.1016/S0022-2836(02)01382-7
-
McCoy AJ, Pei XY, Skinner R, Abrahams JP, Carrell RW. Structure of beta-antithrombin and the effect of glycosylation on antithrombin's heparin affinity and activity. J Mol Biol. 2003;326(3):823-833. (Pubitemid 36279322)
-
(2003)
Journal of Molecular Biology
, vol.326
, Issue.3
, pp. 823-833
-
-
McCoy, A.J.1
Pei, X.Y.2
Skinner, R.3
Abrahams, J.-P.4
Carrell, R.W.5
-
24
-
-
0030917184
-
The oligosaccharide side chain on Asn-135 of alpha-antithrombin, absent in beta-antithrombin, decreases the heparin affinity of the inhibitor by affecting the heparin-induced conformational change
-
DOI 10.1021/bi9702492
-
Turk B, Brieditis I, Bock SC, Olson ST, Bjork I. The oligosaccharide side chain on Asn-135 of alpha-antithrombin, absent in beta-antithrombin, decreases the heparin affinity of the inhibitor by affecting the heparin-induced conformational change. Biochemistry. 1997;36(22):6682-6691. (Pubitemid 27242326)
-
(1997)
Biochemistry
, vol.36
, Issue.22
, pp. 6682-6691
-
-
Turk, B.1
Brieditis, I.2
Bock, S.C.3
Olson, S.T.4
Bjork, I.5
-
25
-
-
0032464975
-
The mechanisms of action of alpha- and beta-isoforms of antithrombin
-
Swedenborg J. The mechanisms of action of alpha- and beta-isoforms of antithrombin. Blood Coagul.Fibrinolysis. 1998;9(Suppl 3):S7-S10.
-
(1998)
Blood Coagul.Fibrinolysis
, vol.9
, Issue.SUPPL. 3
-
-
Swedenborg, J.1
-
26
-
-
79955424161
-
Molecular basis of antithrombin deficiency
-
Luxembourg B, Delev D, Geisen C, et al. Molecular basis of antithrombin deficiency. Thromb Haemost. 2011;105(4):635-646.
-
(2011)
Thromb Haemost
, vol.105
, Issue.4
, pp. 635-646
-
-
Luxembourg, B.1
Delev, D.2
Geisen, C.3
-
27
-
-
70350447281
-
Comparison of recombinant and plasma-derived antithrombin biodistribution in a rabbit model
-
Berry LR, Thong B, Chan AK. Comparison of recombinant and plasma-derived antithrombin biodistribution in a rabbit model. Thromb Haemost. 2009;102(2):302-308.
-
(2009)
Thromb Haemost
, vol.102
, Issue.2
, pp. 302-308
-
-
Berry, L.R.1
Thong, B.2
Chan, A.K.3
|