-
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;118:5996-6005.
-
(2011)
Blood
, vol.118
, pp. 5996-6005
-
-
Nurden, A.T.1
Fiore, M.2
Nurden, P.3
Pillois, X.4
-
2
-
-
29244462341
-
Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-IIb but variably impaired progression of pro-IIb-3 from endoplasmic reticulum to Golgi
-
Nelson EJ, Li J, Mitchell WB, Chandy M, Srivastava A, Coller BS. Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-IIb but variably impaired progression of pro-IIb-3 from endoplasmic reticulum to Golgi. J Thromb Haemost 2005;3:2773-2783.
-
(2005)
J Thromb Haemost
, vol.3
, pp. 2773-2783
-
-
Nelson, E.J.1
Li, J.2
Mitchell, W.B.3
Chandy, M.4
Srivastava, A.5
Coller, B.S.6
-
3
-
-
78650952649
-
An-IIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the-propeller (Asn2Asp) disrupts a calcium binding site in blade 6
-
Mansour W, Elnav Y, Hauschner H, Koren A, Seligsohn U, Rosenberg N. An-IIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the-propeller (Asn2Asp) disrupts a calcium binding site in blade 6. J Thromb Haemost 2011;9:192-200.
-
(2011)
J Thromb Haemost
, vol.9
, pp. 192-200
-
-
Mansour, W.1
Elnav, Y.2
Hauschner, H.3
Koren, A.4
Seligsohn, U.5
Rosenberg, N.6
-
4
-
-
0025253068
-
Glanzmann thrombasthenia: The spectrum of clinical disease
-
George JN, Caen JP, Nurden AT. Glanzmann thrombasthenia: The spectrum of clinical disease. Blood 1990;75: 1383-1395.
-
(1990)
Blood
, vol.75
, pp. 1383-1395
-
-
George, J.N.1
Caen, J.P.2
Nurden, A.T.3
-
5
-
-
78149488259
-
Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis
-
Fiore M, Nurden AT, Vinciguerra C, Nurden P, Pillois X. Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis. Thromb Haemost 2010;105:1076-1077.
-
(2010)
Thromb Haemost
, vol.105
, pp. 1076-1077
-
-
Fiore, M.1
Nurden, A.T.2
Vinciguerra, C.3
Nurden, P.4
Pillois, X.5
-
6
-
-
33645504401
-
Coller BS.-IIb-3 Biogenesis is controlled by engagement of-IIb in the calnexin cycle via the N15-linked glycan
-
Mitchell WB, Li J, French DL, Coller BS.-IIb-3 Biogenesis is controlled by engagement of-IIb in the calnexin cycle via the N15-linked glycan. Blood 2006;107:2713-2719.
-
(2006)
Blood
, vol.107
, pp. 2713-2719
-
-
Mitchell, W.B.1
Li, J.2
French, D.L.3
-
7
-
-
81755178910
-
Glanzmann thrombasthenia-like syndromes associated with macrothrombocytopenias and mutations in the genes encoding the-IIb-3 integrin
-
Nurden AT, Pillois X, Fiore M, Heilig R, Nurden P. Glanzmann thrombasthenia-like syndromes associated with macrothrombocytopenias and mutations in the genes encoding the-IIb-3 integrin. Semin Thromb Hemost 2011;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
-
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 Glanzmann's thrombasthenia-like syndrome
-
Peyruchaud O, Nurden AT, Milet S, Macchi L, Pannochia A, Bray PF, Kieffer N, Bourre F. R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with Glanzmann's thrombasthenia-like syndrome. Blood 1998;92:4178-4187.
-
(1998)
Blood
, vol.92
, pp. 4178-4187
-
-
Peyruchaud, O.1
Nurden, A.T.2
Milet, S.3
MacChi, L.4
Pannochia, A.5
Bray, P.F.6
Kieffer, N.7
Bourre, F.8
-
9
-
-
77149172820
-
AlphaIIbbeta3 integrin: New allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structurefunction
-
Jallu V, Dusseaux M, Panzer S, Torchet MF, Goudemand J, de Brevern AG, Kaplan C. AlphaIIbbeta3 integrin: New allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structurefunction. Hum Mutat. 2010;31:237-246.
-
(2010)
Hum Mutat
, vol.31
, pp. 237-246
-
-
Jallu, V.1
Dusseaux, M.2
Panzer, S.3
Torchet, M.F.4
Goudemand, J.5
De Brevern, A.G.6
Kaplan, C.7
-
10
-
-
0025141456
-
Organization of the gene for platelet glycoprotein IIb
-
Heidenreich R, Eisman R, Surrey S, Delgrosso K, Bennett JS, Schwartz E, Poncz M. Organization of the gene for platelet glycoprotein IIb. Biochemistry 1990;29:1232-1244.
-
(1990)
Biochemistry
, vol.29
, pp. 1232-1244
-
-
Heidenreich, R.1
Eisman, R.2
Surrey, S.3
Delgrosso, K.4
Bennett, J.S.5
Schwartz, E.6
Poncz, M.7
-
11
-
-
13244299072
-
A novel Phe171Cys mutation in integrin-IIb causes Glanzmann thrombasthenia by abrogating-IIb-3 formation
-
Rosenberg N, Landau M, Luboshitz J, Rechavit G, Seligsohn U. A novel Phe171Cys mutation in integrin-IIb causes Glanzmann thrombasthenia by abrogating-IIb-3 formation. J Thromb Haemost 2004;2:1167-1175.
-
(2004)
J Thromb Haemost
, vol.2
, pp. 1167-1175
-
-
Rosenberg, N.1
Landau, M.2
Luboshitz, J.3
Rechavit, G.4
Seligsohn, U.5
-
12
-
-
77953928506
-
A unique interaction between-IIb and-3 in the head region is essential for outside-in signaling-related functions of-IIb-3 integrin
-
Hauschner H, Landau M, Seligsohn U, Rosenberg N. A unique interaction between-IIb and-3 in the head region is essential for outside-in signaling-related functions of-IIb-3 integrin. Blood 2010;115:4542-4550.
-
(2010)
Blood
, vol.115
, pp. 4542-4550
-
-
Hauschner, H.1
Landau, M.2
Seligsohn, U.3
Rosenberg, N.4
-
13
-
-
0029809321
-
Effect of mutagenesis of GPIIb amino acid 273 on the expression and conformation of the platelet integrin GPIIb-IIIa
-
Kahn MJ, Kieber-Emmons T, Vilaire G, Murali R, Poncz M, Bennett JD. Effect of mutagenesis of GPIIb amino acid 273 on the expression and conformation of the platelet integrin GPIIb-IIIa. Biochemistry 1996;35:14304-14311.
-
(1996)
Biochemistry
, vol.35
, pp. 14304-14311
-
-
Kahn, M.J.1
Kieber-Emmons, T.2
Vilaire, G.3
Murali, R.4
Poncz, M.5
Bennett, J.D.6
-
14
-
-
0028071221
-
A single amino acid substitution flanking the fourth calcium binding domain of-IIb prevents maturation of the-IIb-3 integrin complex
-
Wilcox DA, Wautier JL, Pidard D, Newman PJ. A single amino acid substitution flanking the fourth calcium binding domain of-IIb prevents maturation of the-IIb-3 integrin complex. J Biol Chem 1994;269:4450-4457.
-
(1994)
J Biol Chem
, vol.269
, pp. 4450-4457
-
-
Wilcox, D.A.1
Wautier, J.L.2
Pidard, D.3
Newman, P.J.4
-
15
-
-
0028123329
-
Glanzmann thrombasthenia secondary to a Gly273-4Asp mutation adjacent to the first calcium-binding domain of glycoprotein IIb
-
Poncz M, Rifat S, Coller BS, Newman PJ, Shattil SJ, Parrella T, Fortina P, Bennett JS. Glanzmann thrombasthenia secondary to a Gly273-4Asp mutation adjacent to the first calcium-binding domain of glycoprotein IIb. J Clin Invest 1994;93:172-179.
-
(1994)
J Clin Invest
, vol.93
, pp. 172-179
-
-
Poncz, M.1
Rifat, S.2
Coller, B.S.3
Newman, P.J.4
Shattil, S.J.5
Parrella, T.6
Fortina, P.7
Bennett, J.S.8
-
16
-
-
0036796104
-
Analysis of the amino acid requirement for a normal-IIb-3 maturation at-IIbGlu324 commonly mutated in Glanzmann thrombasthenia
-
Milet-Marsal S, Breillat C, Peyruchaud O, Nurden P, Combrié R, Nurden AT, Bourre F. Analysis of the amino acid requirement for a normal-IIb-3 maturation at-IIbGlu324 commonly mutated in Glanzmann thrombasthenia. Thromb Haemost 2002;88:655-662.
-
(2002)
Thromb Haemost
, vol.88
, pp. 655-662
-
-
Milet-Marsal, S.1
Breillat, C.2
Peyruchaud, O.3
Nurden, P.4
Combrié, R.5
Nurden, A.T.6
Bourre, F.7
-
17
-
-
0012954418
-
A naturally occurring Tyr143His-IIb mutation abolishes-IIb-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, Tomiyama Y, Honda S, Tadokoro S, Arai M, Kashiwagi H, Kosugi S, Kato H. A naturally occurring Tyr143His-IIb mutation abolishes-IIb-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 2003;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
Kosugi, S.7
Kato, H.8
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