-
1
-
-
82955207656
-
Glanzmann thrombasthenia: A review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models
-
Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood. 2011;118(23):5996-6005.
-
(2011)
Blood
, vol.118
, Issue.23
, pp. 5996-6005
-
-
Nurden, A.T.1
Fiore, M.2
Nurden, P.3
Pillois, X.4
-
2
-
-
84952938421
-
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia
-
Bury L, Falcinelli E, Chiasserini D, Springer TA, Italiano JE Jr, Gresele P. Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. Haematologica. 2016;101(1):46-56.
-
(2016)
Haematologica
, vol.101
, Issue.1
, pp. 46-56
-
-
Bury, L.1
Falcinelli, E.2
Chiasserini, D.3
Springer, T.A.4
Italiano, J.E.5
Gresele, P.6
-
3
-
-
84974569548
-
Inherited platelet disorders: Toward DNA-based diagnosis
-
Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH; BRIDGE-BPD Consortium and the ThromboGenomics Consortium. Inherited platelet disorders: toward DNA-based diagnosis. Blood. 2016;127(23):2814-2823.
-
(2016)
Blood
, vol.127
, Issue.23
, pp. 2814-2823
-
-
Lentaigne, C.1
Freson, K.2
Laffan, M.A.3
Turro, E.4
Ouwehand, W.H.5
-
4
-
-
84928175264
-
Expanding the mutation spectrum affecting aIIbb3 integrin in Glanzmann thrombasthenia: Screening of the ITGA2B and ITGB3 genes in a large international cohort
-
Nurden AT, Pillois X, Fiore M, et al. Expanding the mutation spectrum affecting aIIbb3 integrin in Glanzmann thrombasthenia: Screening of the ITGA2B and ITGB3 genes in a large international cohort. Hum Mutat. 2015;36(5):548-561.
-
(2015)
Hum Mutat
, vol.36
, Issue.5
, pp. 548-561
-
-
Nurden, A.T.1
Pillois, X.2
Fiore, M.3
-
5
-
-
0028942659
-
An inherited bleeding disorder linked to a defective interaction between ADP and its receptor on platelets. Its influence on glycoprotein IIb-IIIa complex function
-
Nurden P, Savi P, Heilmann E, et al. An inherited bleeding disorder linked to a defective interaction between ADP and its receptor on platelets. Its influence on glycoprotein IIb-IIIa complex function. J Clin Invest. 1995;95(4):1612-1622.
-
(1995)
J Clin Invest
, vol.95
, Issue.4
, pp. 1612-1622
-
-
Nurden, P.1
Savi, P.2
Heilmann, E.3
-
6
-
-
0035982903
-
A Ser752–.Pro substitution in the cytoplasmic domain of beta3 in a Glanzmann thrombasthenia variant fails to prevent interactions between the alphaIIbbeta3 integrin and the platelet granule pool of fibrinogen
-
Nurden P, Poujol C, Winckler J, Combrié R, Caen JP, Nurden AT. A Ser752–.Pro substitution in the cytoplasmic domain of beta3 in a Glanzmann thrombasthenia variant fails to prevent interactions between the alphaIIbbeta3 integrin and the platelet granule pool of fibrinogen. Br J Haematol. 2002; 118(4):1143-1151.
-
(2002)
Br J Haematol
, vol.118
, Issue.4
, pp. 1143-1151
-
-
Nurden, P.1
Poujol, C.2
Winckler, J.3
Combrié, R.4
Caen, J.P.5
Nurden, A.T.6
-
7
-
-
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, Pidard D, Cox A, et al. 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. 1992;80(3):696-708.
-
(1992)
Blood
, vol.80
, Issue.3
, pp. 696-708
-
-
Hardisty, R.1
Pidard, D.2
Cox, A.3
-
8
-
-
0032402117
-
R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann’s thrombasthenia-like syndrome
-
Peyruchaud O, Nurden AT, Milet S, et al. R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann’s thrombasthenia-like syndrome. Blood. 1998;92(11):4178-4187.
-
(1998)
Blood
, vol.92
, Issue.11
, pp. 4178-4187
-
-
Peyruchaud, O.1
Nurden, A.T.2
Milet, S.3
-
9
-
-
0022597477
-
Immunologic and biochemical characterization of homozygous and heterozygous Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations of Israel: Comparison of techniques for carrier detection
-
Coller BS, Seligsohn U, Zivelin A, Zwang E, Lusky A, Modan M. Immunologic and biochemical characterization of homozygous and heterozygous Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations of Israel: comparison of techniques for carrier detection. Br J Haematol. 1986;62(4):723-735.
-
(1986)
Br J Haematol
, vol.62
, Issue.4
, pp. 723-735
-
-
Coller, B.S.1
Seligsohn, U.2
Zivelin, A.3
Zwang, E.4
Lusky, A.5
Modan, M.6
-
10
-
-
33845987101
-
Structural basis of integrin activation by talin
-
Wegener KL, Partridge AW, Han J, et al. Structural basis of integrin activation by talin. Cell. 2007;128(1):171-182.
-
(2007)
Cell
, vol.128
, Issue.1
, pp. 171-182
-
-
Wegener, K.L.1
Partridge, A.W.2
Han, J.3
-
11
-
-
40449133970
-
Kindlin-3 is essential for integrin activation and platelet aggregation
-
Moser M, Nieswandt B, Ussar S, Pozgajova M, Fässler R. Kindlin-3 is essential for integrin activation and platelet aggregation. Nat Med. 2008;14(3): 325-330.
-
(2008)
Nat Med
, vol.14
, Issue.3
, pp. 325-330
-
-
Moser, M.1
Nieswandt, B.2
Ussar, S.3
Pozgajova, M.4
Fässler, R.5
-
12
-
-
0029048813
-
The conserved membrane-proximal region of an integrin cytoplasmic domain specifies ligand binding affinity
-
Hughes PE, O’Toole TE, Ylänne J, Shattil SJ, Ginsberg MH. The conserved membrane-proximal region of an integrin cytoplasmic domain specifies ligand binding affinity. J Biol Chem. 1995;270(21):12411-12417.
-
(1995)
J Biol Chem
, vol.270
, Issue.21
, pp. 12411-12417
-
-
Hughes, P.E.1
O’Toole, T.E.2
Ylänne, J.3
Shattil, S.J.4
Ginsberg, M.H.5
-
13
-
-
79956280665
-
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the aIIbb3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia
-
Kunishima S, Kashiwagi H, Otsu M, et al. Heterozygous ITGA2B R995W mutation inducing constitutive activation of the aIIbb3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Blood. 2011;117(20):5479-5484.
-
(2011)
Blood
, vol.117
, Issue.20
, pp. 5479-5484
-
-
Kunishima, S.1
Kashiwagi, H.2
Otsu, M.3
-
14
-
-
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, Salsmann A, Watkins NA, et al. 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. 2008;111(7): 3407-3414.
-
(2008)
Blood
, vol.111
, Issue.7
, pp. 3407-3414
-
-
Ghevaert, C.1
Salsmann, A.2
Watkins, N.A.3
-
15
-
-
84898057717
-
Demonstration of novel gain-of-function mutations of aIIbb3: Association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype
-
Kashiwagi H, Kunishima S, Kiyomizu K, et al. Demonstration of novel gain-of-function mutations of aIIbb3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. Mol Genet Genomic Med. 2013;1(2):77-86.
-
(2013)
Mol Genet Genomic Med
, vol.1
, Issue.2
, pp. 77-86
-
-
Kashiwagi, H.1
Kunishima, S.2
Kiyomizu, K.3
-
16
-
-
66049160883
-
Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families
-
Gresele P, Falcinelli E, Giannini S, et al. Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. Haematologica. 2009;94(5):663-669.
-
(2009)
Haematologica
, vol.94
, Issue.5
, pp. 663-669
-
-
Gresele, P.1
Falcinelli, E.2
Giannini, S.3
-
17
-
-
77954507827
-
L718P mutation in the membrane-proximal cytoplasmic tail of b 3 promotes abnormal a IIb b 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype
-
Jayo A, Conde I, Lastres P, et al. L718P mutation in the membrane-proximal cytoplasmic tail of b 3 promotes abnormal a IIb b 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype. Haematologica. 2010;95(7):1158-1166.
-
(2010)
Haematologica
, vol.95
, Issue.7
, pp. 1158-1166
-
-
Jayo, A.1
Conde, I.2
Lastres, P.3
-
18
-
-
84873080919
-
Identification of the integrin b3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis
-
Kobayashi Y, Matsui H, Kanai A, et al. Identification of the integrin b3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. Br J Haematol. 2013;160(4):521-529.
-
(2013)
Br J Haematol
, vol.160
, Issue.4
, pp. 521-529
-
-
Kobayashi, Y.1
Matsui, H.2
Kanai, A.3
-
19
-
-
0242606428
-
Paris-Trousseau syndrome: Clinical, hematological, molecular data of ten new cases
-
Favier R, Jondeau K, Boutard P, et al. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb Haemost. 2003;90(5): 893-897.
-
(2003)
Thromb Haemost
, vol.90
, Issue.5
, pp. 893-897
-
-
Favier, R.1
Jondeau, K.2
Boutard, P.3
-
20
-
-
0030664425
-
Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex
-
Wang R, Shattil SJ, Ambruso DR, Newman PJ. Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex. J Clin Invest. 1997;100(9):2393-2403.
-
(1997)
J Clin Invest
, vol.100
, Issue.9
, pp. 2393-2403
-
-
Wang, R.1
Shattil, S.J.2
Ambruso, D.R.3
Newman, P.J.4
-
21
-
-
0026614923
-
Ser-752–.Pro mutation in the cytoplasmic domain of integrin b 3 subunit and defective activation of platelet integrin a IIb b 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia
-
Chen YP, Djaffar I, Pidard D, et al. Ser-752–.Pro mutation in the cytoplasmic domain of integrin b 3 subunit and defective activation of platelet integrin a IIb b 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. Proc Natl Acad Sci USA. 1992;89(21):10169-10173.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, Issue.21
, pp. 10169-10173
-
-
Chen, Y.P.1
Djaffar, I.2
Pidard, D.3
-
22
-
-
29244480006
-
A 13-bp deletion in a(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia
-
Rosenberg N, Hauschner H, Peretz H, et al. A 13-bp deletion in a(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia. J Thromb Haemost. 2005;3(12):2764-2772.
-
(2005)
J Thromb Haemost
, vol.3
, Issue.12
, pp. 2764-2772
-
-
Rosenberg, N.1
Hauschner, H.2
Peretz, H.3
-
23
-
-
84856558611
-
A mutation in the b3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of aIIb b3 to an active state
-
Hauschner H, Mor-Cohen R, Seligsohn U, Rosenberg N. A mutation in the b3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of aIIb b3 to an active state. J Thromb Haemost. 2012;10(2):289-297.
-
(2012)
J Thromb Haemost
, vol.10
, Issue.2
, pp. 289-297
-
-
Hauschner, H.1
Mor-Cohen, R.2
Seligsohn, U.3
Rosenberg, N.4
-
24
-
-
84926431073
-
Abnormal cytoplasmic extensions associated with active aIIbb3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome
-
Hauschner H, Mor-Cohen R, Messineo S, et al. Abnormal cytoplasmic extensions associated with active aIIbb3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. Blood Coagul Fibrinolysis. 2015;26(3):302-308.
-
(2015)
Blood Coagul Fibrinolysis
, vol.26
, Issue.3
, pp. 302-308
-
-
Hauschner, H.1
Mor-Cohen, R.2
Messineo, S.3
-
25
-
-
85014899184
-
Respective contributions of single and compound granule fusion to secretion by activated platelets
-
Eckly A, Rinckel JY, Proamer F, et al. Respective contributions of single and compound granule fusion to secretion by activated platelets. Blood. 2016; 128(21):2538-2549.
-
(2016)
Blood
, vol.128
, Issue.21
, pp. 2538-2549
-
-
Eckly, A.1
Rinckel, J.Y.2
Proamer, F.3
|