-
1
-
-
77951640946
-
A method and server forpredicting damaging missense mutations
-
Adzhubei, I. A., S. Schmidt, L. Peshkin, V. E. Ramensky, A. Gerasimova, P. Bork, et al. 2010. A method and server forpredicting damaging missense mutations. Nat. Methods 7:248–249
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
-
2
-
-
84860015586
-
Outside-in signalling generated by a constitutively activated integrin αIIbβ3 impairs proplatelet formation in human megakaryocytes
-
Bury, L., A. Malara, P. Gresele, and A. Balduini. 2012.Outside-in signalling generated by a constitutively activated integrin αIIbβ3 impairs proplatelet formation in human megakaryocytes. PLoS One 7:e34449
-
(2012)
Plos One
, vol.7
-
-
Bury, L.1
Malara, A.2
Gresele, P.3
Balduini, A.4
-
3
-
-
43549096235
-
A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia
-
Ghevaert, C., A. Salsmann, N. A. Watkins, E. Schaffner-Reckinger, A. Rankin, S. F. Garner, et al. 2008. A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. Blood 111:3407–3414
-
(2008)
Blood
, vol.111
, pp. 3407-3414
-
-
Ghevaert, C.1
Salsmann, A.2
Watkins, N.A.3
Schaffner-Reckinger, E.4
Rankin, A.5
Garner, S.F.6
-
4
-
-
66049160883
-
Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunctionin two Italian families
-
Gresele, P., E. Falcinelli, S. Giannini, P. D’Adamo, A. D’Eustacchio, T. Corazzi, et al. 2009. Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunctionin two Italian families. Haematologica 94:663–669
-
(2009)
Haematologica
, vol.94
, pp. 663-669
-
-
Gresele, P.1
Falcinelli, E.2
Giannini, S.3
D’Adamo, P.4
D’Eustacchio, A.5
Corazzi, T.6
-
5
-
-
0026772036
-
A defect of platelet aggregation associated with an abnormal distribution of glycoprotein IIb-IIIa complexes within the platelet: The cause of a lifelong bleeding disorder
-
Hardisty, R., D. Pidard, A. Cox, T. Nokes, C. Legrand, C. Bouillot, et al. 1992. A defect of platelet aggregation associated with an abnormal distribution of glycoprotein IIb-IIIa complexes within the platelet: the cause of a lifelong bleeding disorder. Blood 80:696–708
-
(1992)
Blood
, vol.80
, pp. 696-708
-
-
Hardisty, R.1
Pidard, D.2
Cox, A.3
Nokes, T.4
Legrand, C.5
Bouillot, C.6
-
6
-
-
0032590042
-
Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival
-
Hodivala-Dilke, K. M., K. P. McHugh, D. A. Tsakiris, H. Rayburn, D. Crowley, M. Ullman-Culler_e, et al. 1999.Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. J. Clin. Invest. 103:229–238
-
(1999)
J. Clin. Invest
, vol.103
, pp. 229-238
-
-
Hodivala-Dilke, K.M.1
McHugh, K.P.2
Tsakiris, D.A.3
Rayburn, H.4
Crowley, D.5
Ullman-Culler, M.6
-
7
-
-
77954507827
-
L718P mutation in the membraneproximalcytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomaincoalescence, and associates with a thrombasthenia-likephenotype
-
Jayo, A., I. Conde, P. Lastres, C. Mart_ınez, J. Rivera, V. Vicente, et al. 2010. L718P mutation in the membraneproximalcytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomaincoalescence, and associates with a thrombasthenia-likephenotype. Haematologica 95:1158–1166
-
(2010)
Haematologica
, vol.95
, pp. 1158-1166
-
-
Jayo, A.1
Conde, I.2
Lastres, P.3
Mart-Inez, C.4
Rivera, J.5
Vicente, V.6
-
8
-
-
0033561096
-
A mutation in the extracellular cysteine-rich repeat region of the beta3 subunit activates integrins alphaIIbbeta3 and alphaVbeta3
-
Kashiwagi, H., Y. Tomiyama, S. Tadokoro, S. Honda, M. Shiraga, H. Mizutani, et al. 1999. A mutation in the extracellular cysteine-rich repeat region of the beta3 subunit activates integrins alphaIIbbeta3 and alphaVbeta3. Blood 93:2559–2568
-
(1999)
Blood
, vol.93
, pp. 2559-2568
-
-
Kashiwagi, H.1
Tomiyama, Y.2
Tadokoro, S.3
Honda, S.4
Shiraga, M.5
Mizutani, H.6
-
9
-
-
0012954418
-
A naturally occurring Tyr143His alpha IIb mutation abolishes alpha IIb beta 3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: Comparison with other mutations causing ligand-binding defects
-
Kiyoi, T., Y. Tomiyama, S. Honda, S. Tadokoro, M. Arai, H. Kashiwagi, et al. 2003. A naturally occurring Tyr143His alpha IIb mutation abolishes alpha IIb beta 3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects. Blood 101:3485–3491
-
(2003)
Blood
, vol.101
, pp. 3485-3491
-
-
Kiyoi, T.1
Tomiyama, Y.2
Honda, S.3
Tadokoro, S.4
Arai, M.5
Kashiwagi, H.6
-
10
-
-
84865191767
-
Recognition of highly restricted regions in the β-propeller domain of aIIb by platelet-associated anti-αIIbβ3 autoantibodies in primary immune thrombocytopenia
-
Kiyomizu, K., H. Kashiwagi, T. Nakazawa, S. Tadokoro, S. Honda, Y. Kanakura, et al. 2012. Recognition of highly restricted regions in the β-propeller domain of aIIb by platelet-associated anti-αIIbβ3 autoantibodies in primary immune thrombocytopenia. Blood 120:1499–1509
-
(2012)
Blood
, vol.120
, pp. 1499-1509
-
-
Kiyomizu, K.1
Kashiwagi, H.2
Nakazawa, T.3
Tadokoro, S.4
Honda, S.5
Kanakura, Y.6
-
11
-
-
79956280665
-
Heterozygous ITGA2B R995Wmutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia
-
Kunishima, S., H. Kashiwagi, M. Otsu, N. Takayama, K. Eto, M. Onodera, et al. 2011. Heterozygous ITGA2B R995Wmutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Blood 117:5479–5484
-
(2011)
Blood
, vol.117
, pp. 5479-5484
-
-
Kunishima, S.1
Kashiwagi, H.2
Otsu, M.3
Takayama, N.4
Eto, K.5
Onodera, M.6
-
12
-
-
33748189345
-
Regulation ofproplatelet formation and platelet release by integrin alpha IIb beta3
-
Larson, M. K., and S. P. Watson. 2006. Regulation ofproplatelet formation and platelet release by integrin alpha IIb beta3. Blood 108:1509–1514
-
(2006)
Blood
, vol.108
, pp. 1509-1514
-
-
Larson, M.K.1
Watson, S.P.2
-
13
-
-
0034330655
-
Two genetic defects in alphaIIb are associated with type I Glanzmann’s thrombasthenia in a Great Pyrenees dog: A14-base insertion in exon 13 and a splicing defect of intron13
-
Lipscomb, D. L., C. Bourne, and M. K. Boudreaux. 2000.Two genetic defects in alphaIIb are associated with type I Glanzmann’s thrombasthenia in a Great Pyrenees dog: a14-base insertion in exon 13 and a splicing defect of intron13. Vet. Pathol. 37:581–588
-
(2000)
Vet. Pathol
, vol.37
, pp. 581-588
-
-
Lipscomb, D.L.1
Bourne, C.2
Boudreaux, M.K.3
-
14
-
-
82955207656
-
Glanzmannthrombasthenia: A review of ITGA2B and ITGB3defects with emphasis on variants, phenotypic variability, and mouse models
-
Nurden, A. T., M. Fiore, P. Nurden, and X. Pillois. 2011a.Glanzmannthrombasthenia: a review of ITGA2B and ITGB3defects with emphasis on variants, phenotypic variability, and mouse models. Blood 118:5996–6005
-
(2011)
Blood
, vol.118
, pp. 5996-6005
-
-
Nurden, A.T.1
Fiore, M.2
Nurden, P.3
Pillois, X.4
-
15
-
-
81755178910
-
Glanzmann thrombasthenia-like syndromesassociated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin
-
Nurden, A. T., X. Pillois, M. Fiore, R. Heilig, and P. Nurden.2011b. Glanzmann thrombasthenia-like syndromesassociated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. Semin. Thromb. Hemost. 37:698–706
-
(2011)
Semin. Thromb. Hemost.
, vol.37
, pp. 698-706
-
-
Nurden, A.T.1
Pillois, X.2
Fiore, M.3
Heilig, R.4
Nurden, P.5
-
16
-
-
0032402117
-
R to Q amino acidsubstitution in the GFFKR sequence of the cytoplasmicdomain of the integrin IIb subunit in a patient with a Glanzmann’s thrombasthenia-like syndrome
-
Peyruchaud, O., A. T. Nurden, S. Milet, L. Macchi, A. Pannochia, P. F. Bray, et al. 1998. R to Q amino acidsubstitution in the GFFKR sequence of the cytoplasmicdomain of the integrin IIb subunit in a patient with a Glanzmann’s thrombasthenia-like syndrome. Blood 92:4178–4187
-
(1998)
Blood
, vol.92
, pp. 4178-4187
-
-
Nurden Milet Macchi Pannochia Bray, O.A.T.S.L.A.P.F.1
-
17
-
-
0035889152
-
A point mutation in the cysteinerichdomain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype
-
Ruiz, C., C. Y. Liu, Q. H. Sun, M. Sigaud-Fiks, E. Fressinaud, J. Y. Muller, et al. 2001. A point mutation in the cysteinerichdomain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype. Blood 98:2432–2441
-
(2001)
Blood
, vol.98
, pp. 2432-2441
-
-
Ruiz, C.1
Liu, C.Y.2
Sun, Q.H.3
Sigaud-Fiks, M.4
Fressinaud, E.5
Muller, J.Y.6
-
18
-
-
67649496313
-
Over expression of the partially activated alpha(IIb)beta3D723H integrin salt bridge mutant downregulates RhoA activity and induces microtubule-dependent proplatelet-like extensions in Chinese hamster ovary cells
-
Schaffner-Reckinger, E., A. Salsmann, N. Debili, J. Bellis, J. DeMey, W. Vainchenker, et al. 2009. Over expression of the partially activated alpha(IIb)beta3D723H integrin salt bridge mutant downregulates RhoA activity and induces microtubule-dependent proplatelet-like extensions in Chinese hamster ovary cells. J. Thromb. Haemost. 7:1207–1217
-
(2009)
J. Thromb. Haemost
, vol.7
, pp. 1207-1217
-
-
Schaffner-Reckinger, E.1
Salsmann, A.2
Debili, N.3
Bellis, J.4
Demey, J.5
Vainchenker, W.6
-
19
-
-
0034568429
-
Glanzmann thrombasthenia: Integrin alpha IIb beta 3 deficiency
-
Tomiyama, Y. 2000. Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency. Int. J. Hematol. 72:448–454.
-
(2000)
Int. J. Hematol
, vol.72
, pp. 448-454
-
-
Tomiyama, Y.1
-
20
-
-
0034663430
-
Thrombasthenic micegenerated by replacement of the integrin alpha (IIb) gene:demonstration that transcriptional activation of this megakaryocytic locus precedes lineage commitment
-
Tronik-Le Roux, D., V. Roullot, C. Poujol, T. Kortulewski, P. Nurden, and G. Marguerie. 2000. Thrombasthenic micegenerated by replacement of the integrin alpha (IIb) gene:demonstration that transcriptional activation of this megakaryocytic locus precedes lineage commitment. Blood 96:1399–1408
-
(2000)
Blood
, vol.96
, pp. 1399-1408
-
-
Tronik-Le Roux, D.1
Roullot, V.2
Poujol, C.3
Kortulewski, T.4
Nurden, P.5
Marguerie, G.6
-
21
-
-
77953561717
-
Structural basis of transmembrane domaininteractions in integrin signaling. Cell
-
Ulmer, T. S. 2010. Structural basis of transmembrane domaininteractions in integrin signaling. Cell. Adh. Migr. 4:243–248.
-
(2010)
Adh. Migr
, vol.4
, pp. 243-248
-
-
Ulmer, T.S.1
|