-
1
-
-
84871010763
-
Genetics of familial forms of thrombocytopenia
-
22886561 1:CAS:528:DC%2BC38Xhs1Gntr3J 10.1007/s00439-012-1215-x
-
Balduini CL, Savoia A. Genetics of familial forms of thrombocytopenia. Hum Genet. 2012;131:1821-32.
-
(2012)
Hum Genet
, vol.131
, pp. 1821-1832
-
-
Balduini, C.L.1
Savoia, A.2
-
2
-
-
41349097770
-
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia
-
DOI 10.1038/ng.103, PII NG103
-
Morison IM, Cramer Bordé EM, Cheesman EJ, Cheong PL, Holyoake AJ, Fichelson S, et al. A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat Genet. 2008;40:387-9. (Pubitemid 351450877)
-
(2008)
Nature Genetics
, vol.40
, Issue.4
, pp. 387-389
-
-
Morison, I.M.1
Cramer Borde, E.M.2
Cheesman, E.J.3
Cheong, P.L.4
Holyoake, A.J.5
Fichelson, S.6
Weeks, R.J.7
Lo, A.8
Davies, S.M.K.9
Wilbanks, S.M.10
Fagerlund, R.D.11
Ludgate, M.W.12
Da Silva Tatley, F.M.13
Coker, M.S.A.14
Bockett, N.A.15
Hughes, G.16
Pippig, D.A.17
Smith, M.P.18
Capron, C.19
Ledgerwood, E.C.20
more..
-
3
-
-
58849100937
-
Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly
-
18849486 1:CAS:528:DC%2BD1MXptFShtQ%3D%3D 10.1182/blood-2008-06-162610
-
Kunishima S, Kobayashi R, Itoh TJ, Hamaguchi M, Saito H. Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. Blood. 2009;113:458-61.
-
(2009)
Blood
, vol.113
, pp. 458-461
-
-
Kunishima, S.1
Kobayashi, R.2
Itoh, T.J.3
Hamaguchi, M.4
Saito, H.5
-
4
-
-
81755178910
-
Glanzmann thrombasthenia-like syndromes associated with macrothrombocytopenias and mutations in the genes encoding the αiIbβ3 integrin
-
22102273 1:CAS:528:DC%2BC3MXhs1Wgt77O 10.1055/s-0031-1291380
-
Nurden AT, Pillois X, Fiore M, Heilig R, Nurden P. Glanzmann thrombasthenia-like syndromes associated with macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 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
-
5
-
-
78650879044
-
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
-
21211618 1:CAS:528:DC%2BC3MXktVaguw%3D%3D 10.1016/j.ajhg.2010.12.006
-
Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, et al. Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet. 2011;88:115-20.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 115-120
-
-
Pippucci, T.1
Savoia, A.2
Perrotta, S.3
Pujol-Moix, N.4
Noris, P.5
Castegnaro, G.6
-
6
-
-
82155184530
-
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome
-
21960593 1:CAS:528:DC%2BC3MXhs1ShtrbF 10.1182/blood-2011-07-365601
-
Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, et al. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood. 2011;118:5928-37.
-
(2011)
Blood
, vol.118
, pp. 5928-5937
-
-
Nurden, P.1
Debili, N.2
Coupry, I.3
Bryckaert, M.4
Youlyouz-Marfak, I.5
Solé, G.6
-
7
-
-
84863393160
-
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
-
22366785 1:CAS:528:DC%2BC38Xislygu7o%3D 10.1038/ng.1083
-
Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012;44:435-9.
-
(2012)
Nat Genet
, vol.44
, pp. 435-439
-
-
Albers, C.A.1
Paul, D.S.2
Schulze, H.3
Freson, K.4
Stephens, J.C.5
Smethurst, P.A.6
-
8
-
-
79960895154
-
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
-
21765411 1:CAS:528:DC%2BC3MXovFyhtrg%3D 10.1038/ng.885
-
Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet. 2011;43:735-7.
-
(2011)
Nat Genet
, vol.43
, pp. 735-737
-
-
Albers, C.A.1
Cvejic, A.2
Favier, R.3
Bouwmans, E.E.4
Alessi, M.C.5
Bertone, P.6
-
9
-
-
84876406583
-
ACTN1 mutations cause congenital macrothrombocytopenia
-
23434115 1:CAS:528:DC%2BC3sXjtVShtbg%3D 10.1016/j.ajhg.2013.01.015
-
Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, et al. ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet. 2013;92:431-8.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 431-438
-
-
Kunishima, S.1
Okuno, Y.2
Yoshida, K.3
Shiraishi, Y.4
Sanada, M.5
Muramatsu, H.6
-
10
-
-
78650669297
-
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations
-
20844233 1:CAS:528:DC%2BC3MXktFyjtw%3D%3D 10.1182/blood-2010-08-304725
-
Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood. 2010;116:5832-7.
-
(2010)
Blood
, vol.116
, pp. 5832-5837
-
-
Pecci, A.1
Gresele, P.2
Klersy, C.3
Savoia, A.4
Noris, P.5
Fierro, T.6
-
11
-
-
34250727187
-
From hematopoietic stem cells to platelets
-
DOI 10.1111/j.1538-7836.2007.02472.x, State of the Art 2007: XXI Congress of the International Society on Thrombosis and Haemostasis
-
Chang Y, Bluteau D, Debili N, Vainchenker W. From hematopoietic stem cells to platelets. J Thromb Haemost. 2007;5(Suppl 1):318-27. (Pubitemid 46958849)
-
(2007)
Journal of Thrombosis and Haemostasis
, vol.5
, Issue.SUPPL. 1
, pp. 318-327
-
-
Chang, Y.1
Bluteau, D.2
Debili, N.3
Vainchenker, W.4
-
12
-
-
67849088732
-
Regulation of megakaryocyte maturation and platelet formation
-
19630806 1:CAS:528:DC%2BD1MXpvV2isL4%3D 10.1111/j.1538-7836.2009.03398.x
-
Bluteau D, Lordier L, Di Stefano A, Chang Y, Raslova H, Debili N, et al. Regulation of megakaryocyte maturation and platelet formation. J Thromb Haemost. 2009;7(Suppl 1):227-34.
-
(2009)
J Thromb Haemost
, vol.7
, Issue.SUPPL 1
, pp. 227-234
-
-
Bluteau, D.1
Lordier, L.2
Di Stefano, A.3
Chang, Y.4
Raslova, H.5
Debili, N.6
-
13
-
-
84867174518
-
Platelets: Production, morphology and ultrastructure
-
22918725 1:CAS:528:DC%2BC3sXntVOrur0%3D 10.1007/978-3-642-29423-5-1
-
Thon JN, Italiano JE. Platelets: production, morphology and ultrastructure. Handb Exp Pharmacol. 2012;210:3-22.
-
(2012)
Handb Exp Pharmacol
, vol.210
, pp. 3-22
-
-
Thon, J.N.1
Italiano, J.E.2
-
14
-
-
84865431828
-
Does size matter in platelet production?
-
22665937 1:CAS:528:DC%2BC38XhtlalurbJ 10.1182/blood-2012-04-408724
-
Thon JN, Italiano JE Jr. Does size matter in platelet production? Blood. 2012;120:1552-61.
-
(2012)
Blood
, vol.120
, pp. 1552-1561
-
-
Thon, J.N.1
Italiano Jr., J.E.2
-
15
-
-
79955883317
-
Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators
-
21571218 1:CAS:528:DC%2BC3MXmtFCqtb4%3D 10.1016/j.devcel.2011.04.008
-
Tijssen MR, Cvejic A, Joshi A, Hannah RL, Ferreira R, Forrai A, et al. Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators. Dev Cell. 2011;20:597-609.
-
(2011)
Dev Cell
, vol.20
, pp. 597-609
-
-
Tijssen, M.R.1
Cvejic, A.2
Joshi, A.3
Hannah, R.L.4
Ferreira, R.5
Forrai, A.6
-
16
-
-
0037103295
-
Platelet formation is the consequence of caspase activation within megakaryocytes
-
DOI 10.1182/blood-2002-03-0686
-
De Botton S, Sabri S, Daugas E, Zermati Y, Guidotti JE, Hermine O, et al. Platelet formation is the consequence of caspase activation within megakaryocytes. Blood. 2002;100:1310-7. (Pubitemid 34864286)
-
(2002)
Blood
, vol.100
, Issue.4
, pp. 1310-1317
-
-
De Botton, S.1
Sabri, S.2
Daugas, E.3
Zermati, Y.4
Guidotti, J.E.5
Hermine, O.6
Kroemer, G.7
Vainchenker, W.8
Debili, N.9
-
17
-
-
81755166539
-
Congenital amegakaryocytic thrombocytopenia: Clinical presentation, diagnosis, and treatment
-
22102270 1:CAS:528:DC%2BC3MXhs1WgtrfL 10.1055/s-0031-1291377
-
Ballmaier M, Germeshausen M. Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. Semin Thromb Hemost. 2011;37:673-81.
-
(2011)
Semin Thromb Hemost
, vol.37
, pp. 673-681
-
-
Ballmaier, M.1
Germeshausen, M.2
-
18
-
-
0035174334
-
C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia
-
DOI 10.1182/blood.V97.1.139
-
Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A, et al. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood. 2001;97:139-46. (Pubitemid 32061253)
-
(2001)
Blood
, vol.97
, Issue.1
, pp. 139-146
-
-
Ballmaier, M.1
Germeshausen, M.2
Schulze, H.3
Cherkaoui, K.4
Lang, S.5
Gaudig, A.6
Krukemeier, S.7
Eilers, M.8
Strauss, G.9
Welte, K.10
-
19
-
-
36348961924
-
Congenital amegakaryocytic thrombocytopenia: Clinical and biological consequences of five novel mutations
-
DOI 10.3324/haematol.11425
-
Savoia A, Dufour C, Locatelli F, Noris P, Ambaglio C, Rosti V, et al. Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica. 2007;92:1186-93. (Pubitemid 350144176)
-
(2007)
Haematologica
, vol.92
, Issue.9
, pp. 1186-1193
-
-
Savoia, A.1
Dufour, C.2
Locatelli, F.3
Noris, P.4
Ambaglio, C.5
Rosti, V.6
Zecca, M.7
Ferrari, S.8
Di Bari, F.9
Corcione, A.10
Di Stazio, M.11
Seri, M.12
Balduini, C.L.13
-
20
-
-
33745693042
-
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: The type of mutation predicts the course of the disease
-
16470591 10.1002/humu.9415
-
Germeshausen M, Ballmaier M, Welte K. MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. Hum Mutat. 2006;27:296.
-
(2006)
Hum Mutat
, vol.27
, pp. 296
-
-
Germeshausen, M.1
Ballmaier, M.2
Welte, K.3
-
21
-
-
26244431673
-
Congenital amegakaryocytic thrombocytopenia in three siblings: Molecular analysis of atypical clinical presentation
-
DOI 10.1016/j.exphem.2005.06.017, PII S0301472X05002973
-
Gandhi MJ, Pendergrass TW, Cummings CC, Ihara K, Blau CA, Drachman JG. Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. Exp Hematol. 2005;33:1215-21. (Pubitemid 41416970)
-
(2005)
Experimental Hematology
, vol.33
, Issue.10
, pp. 1215-1221
-
-
Gandhi, M.J.1
Pendergrass, T.W.2
Cummings, C.C.3
Ihara, K.4
Blau, C.A.5
Drachman, J.G.6
-
22
-
-
62149085569
-
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature
-
19302922 1:CAS:528:DC%2BD1MXjsVOhtrw%3D 10.1016/j.exphem.2009.01.001
-
Fox NE, Chen R, Hitchcock I, Keates-Baleeiro J, Frangoul H, Geddis AE. Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. Exp Hematol. 2009;37:495-503.
-
(2009)
Exp Hematol
, vol.37
, pp. 495-503
-
-
Fox, N.E.1
Chen, R.2
Hitchcock, I.3
Keates-Baleeiro, J.4
Frangoul, H.5
Geddis, A.E.6
-
23
-
-
77951499323
-
F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: Proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents
-
20188141 1:CAS:528:DC%2BC3cXksFGksb8%3D 10.1016/j.exphem.2010.02.007
-
Fox NE, Lim J, Chen R, Geddis AE. F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents. Exp Hematol. 2010;38:384-91.
-
(2010)
Exp Hematol
, vol.38
, pp. 384-391
-
-
Fox, N.E.1
Lim, J.2
Chen, R.3
Geddis, A.E.4
-
24
-
-
17744405964
-
Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome
-
Letestu R, Vitrat N, Massé A, Le Couedic JP, Lazar V, Rameau P, et al. Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome. Blood. 2000;95:1633-41. (Pubitemid 30120823)
-
(2000)
Blood
, vol.95
, Issue.5
, pp. 1633-1641
-
-
Letestu, R.1
Vitrat, N.2
Masse, A.3
Le Couedic, J.-P.4
Lazar, V.5
Rameau, P.6
Wendling, F.7
Vuillier, J.8
Boutard, P.9
Plouvier, E.10
Plasse, M.11
Favier, R.12
Vainchenker, W.13
Debili, N.14
-
25
-
-
84855245414
-
Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome
-
21933853 1:CAS:528:DC%2BC3sXjs1Wmsw%3D%3D 10.3324/haematol.2011.049619
-
Fiedler J, Strauss G, Wannack M, Schwiebert S, Seidel K, Henning K, et al. Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome. Haematologica. 2012;97:73-81.
-
(2012)
Haematologica
, vol.97
, pp. 73-81
-
-
Fiedler, J.1
Strauss, G.2
Wannack, M.3
Schwiebert, S.4
Seidel, K.5
Henning, K.6
-
26
-
-
0030789326
-
Thrombopoietin in patients with congenital thrombocytopenia and absent radii: Elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin
-
Ballmaier M, Schulze H, Strauss G, Cherkaoui K, Wittner N, Lynen S, et al. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood. 1997;90:612-9. (Pubitemid 27299101)
-
(1997)
Blood
, vol.90
, Issue.2
, pp. 612-619
-
-
Ballmaier, M.1
Schulze, H.2
Strauss, G.3
Cherkaoui, K.4
Wittner, N.5
Lynen, S.6
Wolters, S.7
Bogenberger, J.8
Welte, K.9
-
27
-
-
0034936465
-
Congenital thrombocytopenia and radio-ulnar synostosis: A new familial syndrome
-
DOI 10.1046/j.1365-2141.2001.02834.x
-
Thompson AA, Woodruff K, Feig SA, Nguyen LT, Schanen NC. Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome. Br J Haematol. 2001;113:866-70. (Pubitemid 32634751)
-
(2001)
British Journal of Haematology
, vol.113
, Issue.4
, pp. 866-870
-
-
Thompson, A.A.1
Woodruff, K.2
Feig, S.A.3
Nguyen, L.T.4
Carolyn Schanen, N.5
-
28
-
-
0033662329
-
Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation
-
11101832 1:CAS:528:DC%2BD3cXptVWgsbo%3D 10.1038/82511
-
Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet. 2000;26:397-8.
-
(2000)
Nat Genet
, vol.26
, pp. 397-398
-
-
Thompson, A.A.1
Nguyen, L.T.2
-
29
-
-
0842330260
-
Inherited thrombocytopenias: Toward a molecular understanding of disorders of platelet production
-
DOI 10.1097/00008480-200402000-00005
-
Geddis AE, Kaushansky K. Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production. Curr Opin Pediatr. 2004;16:15-22. (Pubitemid 38168156)
-
(2004)
Current Opinion in Pediatrics
, vol.16
, Issue.1
, pp. 15-22
-
-
Geddis, A.E.1
Kaushansky, K.2
-
30
-
-
84866858939
-
Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression
-
22898599 1:CAS:528:DC%2BC38XhsVyru7nN 10.1182/blood-2012-04-422337
-
Bluteau D, Glembotsky AC, Raimbault A, Balayn N, Gilles L, Rameau P, et al. Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression. Blood. 2012;120:2708-18.
-
(2012)
Blood
, vol.120
, pp. 2708-2718
-
-
Bluteau, D.1
Glembotsky, A.C.2
Raimbault, A.3
Balayn, N.4
Gilles, L.5
Rameau, P.6
-
31
-
-
0242606428
-
Paris-Trousseau syndrome: Clinical, hematological, molecular data of ten new cases
-
Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, et al. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb Haemost. 2003;90:893-7. (Pubitemid 37427859)
-
(2003)
Thrombosis and Haemostasis
, vol.90
, Issue.5
, pp. 893-897
-
-
Favier, R.1
Jondeau, K.2
Boutard, P.3
Grossfeld, P.4
Reinert, P.5
Jones, C.6
Bertoni, F.7
Cramer, E.M.8
-
32
-
-
1642434012
-
Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis
-
Balduini CL, Pecci A, Loffredo G, Izzo P, Noris P, Grosso M, et al. Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Thromb Haemost. 2004;91:129-40. (Pubitemid 38111229)
-
(2004)
Thrombosis and Haemostasis
, vol.91
, Issue.1
, pp. 129-140
-
-
Balduini, C.L.1
Pecci, A.2
Loffredo, G.3
Izzo, P.4
Noris, P.5
Grosso, M.6
Bergamaschi, G.7
Rosti, V.8
Magrini, U.9
Ceresa, I.F.10
Conti, V.11
Poggi, V.12
Savoia, A.13
-
33
-
-
0034052854
-
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA 1
-
DOI 10.1038/73480
-
Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2000;24:266-70. (Pubitemid 30132195)
-
(2000)
Nature Genetics
, vol.24
, Issue.3
, pp. 266-270
-
-
Nichols, K.E.1
Crispino, J.D.2
Poncz, M.3
White, J.G.4
Orkin, S.H.5
Maris, J.M.6
Weiss, M.J.7
-
34
-
-
0032830638
-
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
-
DOI 10.1038/13793
-
Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23:166-75. (Pubitemid 29455388)
-
(1999)
Nature Genetics
, vol.23
, Issue.2
, pp. 166-175
-
-
Song, W.-J.1
Sullivan, M.G.2
Legare, R.D.3
Hutchings, S.4
Tan, X.5
Kufrin, D.6
Ratajczak, J.7
Resende, I.C.8
Haworth, C.9
Hock, R.10
Loh, M.11
Felix, C.12
Roy, R.-C.13
Busque, L.14
Kurnit, D.15
Willman, C.16
Gewirtz, A.M.17
Speck, N.A.18
Bushweller, J.H.19
Li, F.P.20
Gardiner, K.21
Poncz, M.22
Maris, J.M.23
Gilliland, D.G.24
more..
-
35
-
-
33847178682
-
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles
-
17290219 1:CAS:528:DC%2BD2sXhvFWks70%3D 10.1038/sj.emboj.7601568
-
Matheny CJ, Speck ME, Cushing PR, Zhou Y, Corpora T, Regan M, et al. Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. EMBO J. 2007;26:1163-75.
-
(2007)
EMBO J
, vol.26
, pp. 1163-1175
-
-
Matheny, C.J.1
Speck, M.E.2
Cushing, P.R.3
Zhou, Y.4
Corpora, T.5
Regan, M.6
-
36
-
-
80053646494
-
Familial myelodysplastic syndromes: A review of the literature
-
21606161 10.3324/haematol.2011.043422
-
Liew E, Owen C. Familial myelodysplastic syndromes: a review of the literature. Haematologica. 2011;96:1536-42.
-
(2011)
Haematologica
, vol.96
, pp. 1536-1542
-
-
Liew, E.1
Owen, C.2
-
37
-
-
73949157161
-
Core binding factor at the crossroads: Determining the fate of the HSC
-
19813271 1:CAS:528:DC%2BD1MXhtlGgtrnN 10.1002/jcp.21950
-
Link KA, Chou FS, Mulloy JC. Core binding factor at the crossroads: determining the fate of the HSC. J Cell Physiol. 2010;222:50-6.
-
(2010)
J Cell Physiol
, vol.222
, pp. 50-56
-
-
Link, K.A.1
Chou, F.S.2
Mulloy, J.C.3
-
38
-
-
84859196315
-
RUNX1-induced silencing of non-muscle myosin heavy chain IIB contributes to megakaryocyte polyploidization
-
22395608 10.1038/ncomms1704 1:CAS:528:DC%2BC38XhtFSnurrN
-
Lordier L, Bluteau D, Jalil A, Legrand C, Pan J, Rameau P, et al. RUNX1-induced silencing of non-muscle myosin heavy chain IIB contributes to megakaryocyte polyploidization. Nat Commun. 2012;3:717.
-
(2012)
Nat Commun.
, vol.3
, pp. 717
-
-
Lordier, L.1
Bluteau, D.2
Jalil, A.3
Legrand, C.4
Pan, J.5
Rameau, P.6
-
40
-
-
85047689917
-
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia
-
DOI 10.1172/JCI200421197
-
Raslova H, Komura E, Le Couédic JP, Larbret F, Debili N, Feunteun J, et al. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest. 2004;114:77-84. (Pubitemid 39071646)
-
(2004)
Journal of Clinical Investigation
, vol.114
, Issue.1
, pp. 77-84
-
-
Raslova, H.1
Komura, E.2
Le Couedic, J.P.3
Larbret, F.4
Debili, N.5
Feunteun, J.6
Danos, O.7
Albagli, O.8
Vainchenker, W.9
Favier, R.10
-
41
-
-
0034093726
-
FLI-1 is a suppressor of erythroid differentiation in human hematopoietic cells
-
Athanasiou M, Mavrothalassitis G, Sun-Hoffman L, Blair DG. FLI-1 is a suppressor of erythroid differentiation in human hematopoietic cells. Leukemia. 2000;14:439-45. (Pubitemid 30142868)
-
(2000)
Leukemia
, vol.14
, Issue.3
, pp. 439-445
-
-
Athanasiou, M.1
Mavrothalassitis, G.2
Sun-Hoffman, L.3
Blair, D.G.4
-
42
-
-
0033134831
-
Consequences of GATA-1 deficiency in megakaryocytes and platelets
-
Vyas P, Ault K, Jackson CW, Orkin SH, Shivdasani RA. Consequences of GATA-1 deficiency in megakaryocytes and platelets. Blood. 1999;93:2867-75. (Pubitemid 29200777)
-
(1999)
Blood
, vol.93
, Issue.9
, pp. 2867-2875
-
-
Vyas, P.1
Ault, K.2
Jackson, C.W.3
Orkin, S.H.4
Shivdasani, R.A.5
-
43
-
-
0029926485
-
Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1
-
DOI 10.1073/pnas.93.22.12355
-
Fujiwara Y, Browne CP, Cunniff K, Goff SC, Orkin SH. Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proc Natl Acad Sci USA. 1996;93:12355-8. (Pubitemid 26367147)
-
(1996)
Proceedings of the National Academy of Sciences of the United States of America
, vol.93
, Issue.22
, pp. 12355-12358
-
-
Fujiwara, Y.1
Browne, C.P.2
Cunniff, K.3
Goff, S.C.4
Orkin, S.H.5
-
44
-
-
0028242212
-
Bernard-Soulier syndrome: Quantitative characterization of megakaryocytes and platelets by flow cytometric and platelet kinetic measurements
-
Tomer A, Scharf RE, McMillan R, Ruggeri ZM, Harker LA. Bernard-Soulier syndrome: quantitative characterization of megakaryocytes and platelets by flow cytometric and platelet kinetic measurements. Eur J Haematol. 1994;52:193-200. (Pubitemid 24205471)
-
(1994)
European Journal of Haematology
, vol.52
, Issue.4
, pp. 193-200
-
-
Tomer, A.1
Scharf, R.E.2
McMillan, R.3
Ruggeri, Z.M.4
Harker, L.A.5
-
45
-
-
79959848995
-
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias
-
21542825 1:CAS:528:DC%2BC3MXhtVajurjE 10.1111/j.1365-2141.2011.08716.x
-
Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol. 2011;154:161-74.
-
(2011)
Br J Haematol
, vol.154
, pp. 161-174
-
-
Balduini, C.L.1
Pecci, A.2
Savoia, A.3
-
46
-
-
34347390082
-
The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway
-
DOI 10.1182/blood-2007-02-071589
-
Chen Z, Naveiras O, Balduini A, Mammoto A, Conti MA, Adelstein RS, et al. The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. Blood. 2007;110:171-9. (Pubitemid 47026832)
-
(2007)
Blood
, vol.110
, Issue.1
, pp. 171-179
-
-
Chen, Z.1
Naveiras, O.2
Balduini, A.3
Mammoto, A.4
Conti, M.A.5
Adelstein, R.S.6
Ingber, D.7
Daley, G.Q.8
Shivdasani, R.A.9
-
47
-
-
34248329215
-
Proplatelet formation is regulated by the Rho/ROCK pathway
-
DOI 10.1182/blood-2006-04-020024
-
Chang Y, Auradé F, Larbret F, et al. Proplatelet formation is regulated by the Rho/ROCK pathway. Blood. 2007;109:4229-36. (Pubitemid 46743387)
-
(2007)
Blood
, vol.109
, Issue.10
, pp. 4229-4236
-
-
Chang, Y.1
Aurade, F.2
Larbret, F.3
Zhang, Y.4
Le Couedic, J.-P.5
Momeux, L.6
Larghero, J.7
Bertoglio, J.8
Louache, F.9
Cramer, E.10
Vainchenker, W.11
Debili, N.12
-
48
-
-
54149113333
-
Adhesive receptors, extracellular proteins and myosin IIA orchestrate proplatelet formation by human megakaryocytes
-
18752571 1:CAS:528:DC%2BD1cXhsVyqs7zL 10.1111/j.1538-7836.2008.03132.x
-
Balduini A, Pallotta I, Malara A, Lova P, Pecci A, Viarengo G, et al. Adhesive receptors, extracellular proteins and myosin IIA orchestrate proplatelet formation by human megakaryocytes. J Thromb Haemost. 2008;6:1900-7.
-
(2008)
J Thromb Haemost
, vol.6
, pp. 1900-1907
-
-
Balduini, A.1
Pallotta, I.2
Malara, A.3
Lova, P.4
Pecci, A.5
Viarengo, G.6
-
49
-
-
67749093040
-
Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation
-
19572073 1:CAS:528:DC%2BD1MXptlemuro%3D
-
Pecci A, Malara A, Badalucco S, Bozzi V, Torti M, Balduini CL, et al. Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. Thromb Haemost. 2009;102:90-6.
-
(2009)
Thromb Haemost
, vol.102
, pp. 90-96
-
-
Pecci, A.1
Malara, A.2
Badalucco, S.3
Bozzi, V.4
Torti, M.5
Balduini, C.L.6
-
50
-
-
80053205810
-
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells
-
21833445 1:CAS:528:DC%2BC3MXhsVamsr%2FJ 10.1160/TH11-02-0126
-
Pecci A, Bozzi V, Panza E, Barozzi S, Gruppi C, Seri M, et al. Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. Thromb Haemost. 2011;106:693-704.
-
(2011)
Thromb Haemost
, vol.106
, pp. 693-704
-
-
Pecci, A.1
Bozzi, V.2
Panza, E.3
Barozzi, S.4
Gruppi, C.5
Seri, M.6
-
51
-
-
84862908887
-
Mouse models of MYH9-related disease: Mutations in nonmuscle myosin II-A
-
21908426 1:CAS:528:DC%2BC38XpvFGqtw%3D%3D 10.1182/blood-2011-06-358853
-
Zhang Y, Conti MA, Malide D, Dong F, Wang A, Shmist YA. Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. Blood. 2012;119:238-50.
-
(2012)
Blood
, vol.119
, pp. 238-250
-
-
Zhang, Y.1
Conti, M.A.2
Malide, D.3
Dong, F.4
Wang, A.5
Shmist, Y.A.6
-
52
-
-
42449140234
-
Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders
-
18192507 1:CAS:528:DC%2BD1cXjvVamt7c%3D 10.1182/blood-2007-10-116194
-
Kunishima S, Hamaguchi M, Saito H. Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders. Blood. 2008;111:3015-23.
-
(2008)
Blood
, vol.111
, pp. 3015-3023
-
-
Kunishima, S.1
Hamaguchi, M.2
Saito, H.3
-
53
-
-
78650970167
-
A potential role for α-actinin in inside-out αiIbβ3 signaling
-
20940419 1:CAS:528:DC%2BC3MXhtFGrtrk%3D 10.1182/blood-2009-10-246751
-
Tadokoro S, Nakazawa T, Kamae T, Kiyomizu K, Kashiwagi H, Honda S, et al. A potential role for α-actinin in inside-out αIIbβ3 signaling. Blood. 2011;117:250-8.
-
(2011)
Blood
, vol.117
, pp. 250-258
-
-
Tadokoro, S.1
Nakazawa, T.2
Kamae, T.3
Kiyomizu, K.4
Kashiwagi, H.5
Honda, S.6
-
54
-
-
84860015586
-
Outside-in signalling generated by a constitutively activated integrin αiIbβ3 impairs proplatelet formation in human megakaryocytes
-
22539947 1:CAS:528:DC%2BC38Xmslaiu74%3D 10.1371/journal.pone.0034449
-
Bury L, Malara A, Gresele P, Balduini A. Outside-in signalling generated by a constitutively activated integrin αIIbβ3 impairs proplatelet formation in human megakaryocytes. PLoS ONE. 2012;7:e34449.
-
(2012)
PLoS ONE
, vol.7
, pp. 34449
-
-
Bury, L.1
Malara, A.2
Gresele, P.3
Balduini, A.4
-
55
-
-
31544466598
-
The structure of the GPIb-filamin A complex
-
DOI 10.1182/blood-2005-10-3964
-
Nakamura F, Pudas R, Heikkinen O, Permi P, Kilpeläinen I, Munday AD, et al. The structure of the GPIb-filamin A complex. Blood. 2006;107:1925-32. (Pubitemid 43289373)
-
(2006)
Blood
, vol.107
, Issue.5
, pp. 1925-1932
-
-
Nakamura, F.1
Pudas, R.2
Heikkinen, O.3
Permi, P.4
Kilpelainen, I.5
Munday, A.D.6
Hartwig, J.H.7
Stossel, T.P.8
Ylanne, J.9
-
56
-
-
77956246333
-
A novel interaction between FlnA and Syk regulates platelet ITAM-mediated receptor signaling and function
-
20713593 1:CAS:528:DC%2BC3cXhtFensrrN 10.1084/jem.20100222
-
Falet H, Pollitt AY, Begonja AJ, Weber SE, Duerschmied D, Wagner DD, et al. A novel interaction between FlnA and Syk regulates platelet ITAM-mediated receptor signaling and function. J Exp Med. 2010;207:1967-79.
-
(2010)
J Exp Med
, vol.207
, pp. 1967-1979
-
-
Falet, H.1
Pollitt, A.Y.2
Begonja, A.J.3
Weber, S.E.4
Duerschmied, D.5
Wagner, D.D.6
-
57
-
-
84871725422
-
Heterogeneity of platelet functional alterations in patients with filamin A mutations
-
10.1161/ATVBAHA.112.300603 1:CAS:528:DC%2BC38XhvVeltrfL
-
Berrou E, Adam F, Lebret M, Fergelot P, Kauskot A, Coupry I, et al. Heterogeneity of platelet functional alterations in patients with filamin A mutations. Arterioscler Thromb Vasc Biol. 2013;33:11-8.
-
(2013)
Arterioscler Thromb Vasc Biol
, vol.33
, pp. 11-18
-
-
Berrou, E.1
Adam, F.2
Lebret, M.3
Fergelot, P.4
Kauskot, A.5
Coupry, I.6
-
58
-
-
79952358781
-
Bernard-Soulier syndrome
-
21357716 1:CAS:528:DC%2BC38Xhs1WnsLbN 10.3324/haematol.2010.039883
-
Berndt MC, Andrews RK. Bernard-Soulier syndrome. Haematologica. 2011;96:355-9.
-
(2011)
Haematologica
, vol.96
, pp. 355-359
-
-
Berndt, M.C.1
Andrews, R.K.2
-
59
-
-
79952346183
-
Clinical and genetic aspects of Bernard-Soulier syndrome: Searching for genotype/phenotype correlations
-
21173099 1:CAS:528:DC%2BC38Xhs1WnsLbE 10.3324/haematol.2010.032631
-
Savoia A, Pastore A, De Rocco D, Civaschi E, Di Stazio M, Bottega R, et al. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica. 2011;96:417-23.
-
(2011)
Haematologica
, vol.96
, pp. 417-423
-
-
Savoia, A.1
Pastore, A.2
De Rocco, D.3
Civaschi, E.4
Di Stazio, M.5
Bottega, R.6
-
60
-
-
66749109857
-
Intrinsic impaired proplatelet formation and microtubule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrome
-
19377075 1:CAS:528:DC%2BD1MXovFeisr0%3D 10.3324/haematol.2008.001032
-
Strassel C, Eckly A, Léon C, Petitjean C, Freund M, Cazenave JP, et al. Intrinsic impaired proplatelet formation and microtubule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrome. Haematologica. 2009;94:800-10.
-
(2009)
Haematologica
, vol.94
, pp. 800-810
-
-
Strassel, C.1
Eckly, A.2
Léon, C.3
Petitjean, C.4
Freund, M.5
Cazenave, J.P.6
-
61
-
-
82855163998
-
A A386G biallelic GPIbα gene mutation with anomalous behavior: A new mechanism suggested for Bernard-Soulier syndrome pathogenesis
-
21993687 1:CAS:528:DC%2BC38XhsF2nsbbO 10.3324/haematol.2010.039008
-
Vettore S, Tezza F, Malara A, Vianello F, Pecci A, Scandellari R, et al. A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis. Haematologica. 2011;96:1878-82.
-
(2011)
Haematologica
, vol.96
, pp. 1878-1882
-
-
Vettore, S.1
Tezza, F.2
Malara, A.3
Vianello, F.4
Pecci, A.5
Scandellari, R.6
-
62
-
-
79956011582
-
Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro
-
21322749 1:CAS:528:DC%2BC3MXlvFCquro%3D 10.3109/09537104.2010.547960
-
Balduini A, Malara A, Balduini CL, Noris P. Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro. Platelets. 2011;22:308-11.
-
(2011)
Platelets
, vol.22
, pp. 308-311
-
-
Balduini, A.1
Malara, A.2
Balduini, C.L.3
Noris, P.4
-
63
-
-
84855218880
-
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)
-
21933849 1:CAS:528:DC%2BC3sXjs1WmsQ%3D%3D 10.3324/haematol.2011.050682
-
Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, et al. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica. 2012;97:82-8.
-
(2012)
Haematologica
, vol.97
, pp. 82-88
-
-
Noris, P.1
Perrotta, S.2
Bottega, R.3
Pecci, A.4
Melazzini, F.5
Civaschi, E.6
-
64
-
-
59849107667
-
Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano
-
19067792 1:CAS:528:DC%2BD1MXktlGntrw%3D 10.1111/j.1538-7836.2008.03255.x
-
Balduini A, Malara A, Pecci A, Badalucco S, Bozzi V, Pallotta I, et al. Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. J Thromb Haemost. 2009;7:478-84.
-
(2009)
J Thromb Haemost
, vol.7
, pp. 478-484
-
-
Balduini, A.1
Malara, A.2
Pecci, A.3
Badalucco, S.4
Bozzi, V.5
Pallotta, I.6
-
65
-
-
0037105457
-
Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome
-
DOI 10.1182/blood-2002-03-0997
-
Kanaji T, Russell S, Ware J. Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome. Blood. 2002;100:2102-7. (Pubitemid 35001244)
-
(2002)
Blood
, vol.100
, Issue.6
, pp. 2102-2107
-
-
Kanaji, T.1
Russell, S.2
Ware, J.3
-
66
-
-
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
-
18065693 1:CAS:528:DC%2BD1cXktlWmsrY%3D 10.1182/blood-2007-09-112615
-
Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, 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;111:3407-14.
-
(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
-
67
-
-
79956280665
-
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αiIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia
-
21454453 1:CAS:528:DC%2BC3MXntFOjsr4%3D 10.1182/blood-2010-12-323691
-
Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, et al. Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Blood. 2011;117:5479-84.
-
(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
-
68
-
-
67649496313
-
Overexpression 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
-
19486276 1:CAS:528:DC%2BD1MXpvV2itL0%3D 10.1111/j.1538-7836.2009.03494.x
-
Schaffner-Reckinger E, Salsmann A, Debili N, Bellis J, De Mey J, Vainchenker W, et al. Overexpression 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. 2009;7:1207-17.
-
(2009)
J Thromb Haemost
, vol.7
, pp. 1207-1217
-
-
Schaffner-Reckinger, E.1
Salsmann, A.2
Debili, N.3
Bellis, J.4
De Mey, J.5
Vainchenker, W.6
-
69
-
-
84878189027
-
Wiskott-Aldrich syndrome: A comprehensive review
-
Mar 25 [Epub ahead of print]
-
Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci. 2013; Mar 25 [Epub ahead of print].
-
(2013)
Ann N y Acad Sci.
-
-
Massaad, M.J.1
Ramesh, N.2
Geha, R.S.3
-
70
-
-
42249096281
-
Rapid platelet turnover in WASP(-) mice correlates with increased ex vivo phagocytosis of opsonized WASP(-) platelets
-
18346836 1:CAS:528:DC%2BD1cXlslSisLg%3D 10.1016/j.exphem.2007.12.019
-
Prislovsky A, Marathe B, Hosni A, Bolen AL, Nimmerjahn F, Jackson CW, et al. Rapid platelet turnover in WASP(-) mice correlates with increased ex vivo phagocytosis of opsonized WASP(-) platelets. Exp Hematol. 2008;36:609-23.
-
(2008)
Exp Hematol
, vol.36
, pp. 609-623
-
-
Prislovsky, A.1
Marathe, B.2
Hosni, A.3
Bolen, A.L.4
Nimmerjahn, F.5
Jackson, C.W.6
-
71
-
-
0015526142
-
Nature of the platelet defect in the Wiskott-Aldrich syndrome
-
4265132 1:STN:280:DyaE3s%2Fot1yjtg%3D%3D 10.1111/j.1749-6632.1972. tb16316.x
-
Baldini MG. Nature of the platelet defect in the Wiskott-Aldrich syndrome. Ann N Y Acad Sci. 1972;201:437-44.
-
(1972)
Ann N y Acad Sci
, vol.201
, pp. 437-444
-
-
Baldini, M.G.1
-
72
-
-
84876133885
-
Platelets from WAS patients show an increased susceptibility to ex vivo phagocytosis
-
22812495 10.3109/09537104.2012.693991 1:CAS:528:DC%2BC3sXlsF2jtbo%3D
-
Prislovsky A, Zeng X, Sokolic RA, Garabedian EN, Anur P, Candotti F, et al. Platelets from WAS patients show an increased susceptibility to ex vivo phagocytosis. Platelets. 2012;24:288-96.
-
(2012)
Platelets
, vol.24
, pp. 288-296
-
-
Prislovsky, A.1
Zeng, X.2
Sokolic, R.A.3
Garabedian, E.N.4
Anur, P.5
Candotti, F.6
-
73
-
-
70349816649
-
Antiplatelet antibodies in WASP(-) mice correlate with evidence of increased in vivo platelet consumption
-
19733207 1:CAS:528:DC%2BD1MXht1yisLnE 10.1016/j.exphem.2009.08.007
-
Marathe BM, Prislovsky A, Astrakhan A, Rawlings DJ, Wan JY, Strom TS. Antiplatelet antibodies in WASP(-) mice correlate with evidence of increased in vivo platelet consumption. Exp Hematol. 2009;37:1353-63.
-
(2009)
Exp Hematol
, vol.37
, pp. 1353-1363
-
-
Marathe, B.M.1
Prislovsky, A.2
Astrakhan, A.3
Rawlings, D.J.4
Wan, J.Y.5
Strom, T.S.6
-
74
-
-
33745609531
-
Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment
-
DOI 10.1182/blood-2005-03-1219
-
Sabri S, Foudi A, Boukour S, Franc B, Charrier S, Jandrot-Perrus M, et al. Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment. Blood. 2006;108:134-40. (Pubitemid 43990621)
-
(2006)
Blood
, vol.108
, Issue.1
, pp. 134-140
-
-
Sabri, S.1
Foudi, A.2
Boukour, S.3
Franc, B.4
Charrier, S.5
Jandrot-Perrus, M.6
Farndale, R.W.7
Jalil, A.8
Blundell, M.P.9
Cramer, E.M.10
Louache, F.11
Debili, N.12
Thrasher, A.J.13
Vainchenker, W.14
-
75
-
-
24944465805
-
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
-
DOI 10.1111/j.1365-2141.2005.05599.x
-
Rees DC, Iolascon A, Carella M, O'marcaigh AS, Kendra JR, Jowitt SN, et al. Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol. 2005;130:297-309. (Pubitemid 41602532)
-
(2005)
British Journal of Haematology
, vol.130
, Issue.2
, pp. 297-309
-
-
Rees, D.C.1
Iolascon, A.2
Carella, M.3
O'Marcaigh, A.S.4
Kendra, J.R.5
Jowitt, S.N.6
Wales, J.K.7
Vora, A.8
Makris, M.9
Manning, N.10
Nicolaou, A.11
Fisher, J.12
Mann, A.13
Machin, S.J.14
Clayton, P.T.15
Gasparini, P.16
Stewart, G.W.17
-
76
-
-
43549085271
-
Sitosterolaemia: Pathophysiology, clinical presentation and laboratory diagnosis
-
DOI 10.1136/jcp.2007.049775
-
Kidambi S, Patel SB. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. J Clin Pathol. 2008;61:588-94. (Pubitemid 351678209)
-
(2008)
Journal of Clinical Pathology
, vol.61
, Issue.5
, pp. 588-594
-
-
Kidambi, S.1
Patet, S.B.2
-
77
-
-
44449157817
-
Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia
-
18156627 1:CAS:528:DC%2BD1cXisFOksLk%3D 10.1074/jbc.M706689200
-
Kruit JK, Drayer AL, Bloks VW, Blom N, Olthof SG, Sauer PJ, et al. Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. J Biol Chem. 2008;283:6281-7.
-
(2008)
J Biol Chem
, vol.283
, pp. 6281-6287
-
-
Kruit, J.K.1
Drayer, A.L.2
Bloks, V.W.3
Blom, N.4
Olthof, S.G.5
Sauer, P.J.6
-
78
-
-
79961000600
-
Ankrd26 gene disruption enhances adipogenesis of mouse embryonic fibroblasts
-
21669876 1:CAS:528:DC%2BC3MXpsVOmsL8%3D 10.1074/jbc.M111.248435
-
Fei Z, Bera TK, Liu X, Xiang L, Pastan I. Ankrd26 gene disruption enhances adipogenesis of mouse embryonic fibroblasts. J Biol Chem. 2011;286:27761-8.
-
(2011)
J Biol Chem
, vol.286
, pp. 27761-27768
-
-
Fei, Z.1
Bera, T.K.2
Liu, X.3
Xiang, L.4
Pastan, I.5
-
79
-
-
79959279291
-
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: Analysis of 78 patients from 21 families
-
21467542 1:CAS:528:DC%2BC3MXot1Gqt7g%3D 10.1182/blood-2011-02-336537
-
Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood. 2011;117:6673-80.
-
(2011)
Blood
, vol.117
, pp. 6673-6680
-
-
Noris, P.1
Perrotta, S.2
Seri, M.3
Pecci, A.4
Gnan, C.5
Loffredo, G.6
-
80
-
-
84873287311
-
Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia
-
23223974 1:CAS:528:DC%2BC3sXivVyqtr4%3D 10.1160/TH12-07-0497
-
Necchi V, Balduini A, Noris P, Barozzi S, Sommi P, di Buduo C, et al. Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia. Thromb Haemost. 2013;109:263-71.
-
(2013)
Thromb Haemost
, vol.109
, pp. 263-271
-
-
Necchi, V.1
Balduini, A.2
Noris, P.3
Barozzi, S.4
Sommi, P.5
Di Buduo, C.6
-
81
-
-
0021867818
-
Gray platelet syndrome: Selective α-granule deficiency and thrombocytopenia due to increased platelet turnover
-
DOI 10.1007/BF00320926
-
Köhler M, Hellstern P, Morgenstern E, Mueller-Eckhardt C, Berberich R, Meiser RJ, et al. Gray platelet syndrome: selective alpha-granule deficiency and thrombocytopenia due to increased platelet turnover. Blut. 1985;50:331-40. (Pubitemid 15009733)
-
(1985)
Blut
, vol.50
, Issue.6
, pp. 331-340
-
-
Kohler, M.1
Hellstern, P.2
Morgenstern, E.3
-
82
-
-
78649744166
-
Gray platelet syndrome: Natural history of a large patient cohort and locus assignment to chromosome 3p
-
20709904 1:CAS:528:DC%2BC3cXhs1SlsrjP 10.1182/blood-2010-05-286534
-
Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, et al. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood. 2010;116:4990-5001.
-
(2010)
Blood
, vol.116
, pp. 4990-5001
-
-
Gunay-Aygun, M.1
Zivony-Elboum, Y.2
Gumruk, F.3
Geiger, D.4
Cetin, M.5
Khayat, M.6
-
83
-
-
0025962624
-
The clinical importance of acquired abnormalities of platelet function
-
1984161 1:CAS:528:DyaK3MXltFWlsrw%3D 10.1056/NEJM199101033240106
-
George JN, Shattil SJ. The clinical importance of acquired abnormalities of platelet function. N Engl J Med. 1991;324:27-39.
-
(1991)
N Engl J Med
, vol.324
, pp. 27-39
-
-
George, J.N.1
Shattil, S.J.2
-
84
-
-
0024593631
-
Bernard-Soulier syndrome complicating pregnancy: A case report
-
Peaceman AM, Katz AR, Laville M. Bernard-Soulier syndrome complicating pregnancy: a case report. Obstet Gynecol. 1989;73:457-9. (Pubitemid 19066066)
-
(1989)
Obstetrics and Gynecology
, vol.73
, Issue.3
, pp. 457-459
-
-
Peaceman, A.M.1
Katz, A.R.2
Laville, M.3
-
85
-
-
80051641437
-
Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: An international collaborative study
-
21659547 1:CAS:528:DC%2BC3MXhtVOksbbL 10.1182/blood-2010-11-319376
-
Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, et al. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood. 2011;118:1675-84.
-
(2011)
Blood
, vol.118
, pp. 1675-1684
-
-
Moratto, D.1
Giliani, S.2
Bonfim, C.3
Mazzolari, E.4
Fischer, A.5
Ochs, H.D.6
-
86
-
-
0037422842
-
Hematopoietic stem-cell transplantation for the Bernard-Soulier syndrome [6]
-
Locatelli F, Rossi G, Balduini C. Hematopoietic stem-cell transplantation for the Bernard-Soulier syndrome. Ann Intern Med. 2003;138:79. (Pubitemid 36232102)
-
(2003)
Annals of Internal Medicine
, vol.138
, Issue.1
, pp. 79
-
-
Locarelli, F.1
Rossi, G.2
Balduini, C.3
-
87
-
-
33645550963
-
Allogeneic stem cell transplantation as a new treatment option for patients with severe Bernard-Soulier Syndrome
-
16543979
-
Rieger C, Rank A, Fiegl M, Tischer J, Schiel X, Ostermann H, et al. Allogeneic stem cell transplantation as a new treatment option for patients with severe Bernard-Soulier Syndrome. Thromb Haemost. 2006;95:190-1.
-
(2006)
Thromb Haemost
, vol.95
, pp. 190-191
-
-
Rieger, C.1
Rank, A.2
Fiegl, M.3
Tischer, J.4
Schiel, X.5
Ostermann, H.6
-
88
-
-
77951460081
-
X-linked thrombocytopenia (XLT) due to WAS mutations: Clinical characteristics, long-term outcome, and treatment options
-
20173115 1:CAS:528:DC%2BC3cXlvVags7s%3D 10.1182/blood-2009-09-239087
-
Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood. 2010;115:3231-8.
-
(2010)
Blood
, vol.115
, pp. 3231-3238
-
-
Albert, M.H.1
Bittner, T.C.2
Nonoyama, S.3
Notarangelo, L.D.4
Burns, S.5
Imai, K.6
-
89
-
-
0032701718
-
In vitro and in vivo effects of desmopressin on platelet function
-
Balduini CL, Noris P, Belletti S, Spedini P, Gamba G. In vitro and in vivo effects of desmopressin on platelet function. Haematologica. 1999;84:891-6. (Pubitemid 29516919)
-
(1999)
Haematologica
, vol.84
, Issue.10
, pp. 891-896
-
-
Balduini, C.L.1
Noris, P.2
Belletti, S.3
Spedini, P.4
Gamba, G.5
-
90
-
-
70349873286
-
Management of bleeding and of invasive procedures in patients with platelet disorders and/or thrombocytopenia: Guidelines of the Italian Society for Haemostasis and Thrombosis (SISET)
-
10.1016/j.thromres.2009.06.009 1:CAS:528:DC%2BD1MXht1ylsL7O
-
Tosetto A, Balduini CL, Cattaneo M, De Candia E, Mariani G, Molinari AC, et al. Management of bleeding and of invasive procedures in patients with platelet disorders and/or thrombocytopenia: guidelines of the Italian Society for Haemostasis and Thrombosis (SISET). Thromb Res. 2009;124:13-8.
-
(2009)
Thromb Res
, vol.124
, pp. 13-18
-
-
Tosetto, A.1
Balduini, C.L.2
Cattaneo, M.3
De Candia, E.4
Mariani, G.5
Molinari, A.C.6
-
91
-
-
84867429829
-
Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation
-
22398565 1:CAS:528:DC%2BC38Xpt1ensr8%3D 10.1160/TH12-01-0005
-
Pecci A, Barozzi S, d'Amico S, Balduini CL. Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation. Thromb Haemost. 2012;107:1188-9.
-
(2012)
Thromb Haemost
, vol.107
, pp. 1188-1189
-
-
Pecci, A.1
Barozzi, S.2
D'Amico, S.3
Balduini, C.L.4
-
92
-
-
84857736127
-
A patient with Fechtner syndrome successfully treated with romiplostim
-
22273764 10.1160/TH11-07-0474 1:CAS:528:DC%2BC38XlsVSgtbY%3D
-
Gröpper S, Althaus K, Najm J, Haase S, Aul C, Greinacher A, et al. A patient with Fechtner syndrome successfully treated with romiplostim. Thromb Haemost. 2012;107:590-1.
-
(2012)
Thromb Haemost
, vol.107
, pp. 590-591
-
-
Gröpper, S.1
Althaus, K.2
Najm, J.3
Haase, S.4
Aul, C.5
Greinacher, A.6
-
93
-
-
84872219989
-
Platelet function and response to thrombopoietin mimetics in Wiskott-Aldrich syndrome/X-linked thrombocytopenia
-
Bussel JB, Frelinger AL III, Mitchell WB, Pinheiro MP, Barnard MR, Lampa M, et al. Platelet function and response to thrombopoietin mimetics in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. Blood (ASH annual meeting abstracts). 2010;116:1429.
-
(2010)
Blood (ASH Annual Meeting Abstracts)
, vol.116
, pp. 1429
-
-
Bussel, J.B.1
Frelinger Iii, A.L.2
Mitchell, W.B.3
Pinheiro, M.P.4
Barnard, M.R.5
Lampa, M.6
-
94
-
-
44249104013
-
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia
-
DOI 10.1111/j.1365-2141.2008.07139.x
-
Tijssen MR, di Summa F, van den Oudenrijn S, Zwaginga JJ, van der Schoot CE, Voermans C, et al. Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. Br J Haematol. 2008;141:808-13. (Pubitemid 351724870)
-
(2008)
British Journal of Haematology
, vol.141
, Issue.6
, pp. 808-813
-
-
Tijssen, M.R.1
Di Summa, F.2
Van Den Oudenrijn, S.3
Zwaginga, J.J.4
Van Der Schoot, C.E.5
Voermans, C.6
De Haas, M.7
-
95
-
-
0035412362
-
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation
-
11418466 1:CAS:528:DC%2BD3MXkvFSmu78%3D 10.1182/blood.V98.1.85
-
Freson K, Devriendt K, Matthijs G, Van Hoof A, De Vos R, Thys C, et al. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood. 2001;98:85-92.
-
(2001)
Blood
, vol.98
, pp. 85-92
-
-
Freson, K.1
Devriendt, K.2
Matthijs, G.3
Van Hoof, A.4
De Vos, R.5
Thys, C.6
-
96
-
-
84865430616
-
Thrombopoietin-receptor agonists
-
22872157 1:CAS:528:DC%2BC38XhtFyqtbjJ 10.1097/MOH.0b013e328356e909
-
Basciano PA, Bussel JB. Thrombopoietin-receptor agonists. Curr Opin Hematol. 2012;19:392-8.
-
(2012)
Curr Opin Hematol
, vol.19
, pp. 392-398
-
-
Basciano, P.A.1
Bussel, J.B.2
-
97
-
-
82955248033
-
Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes)
-
21842307 10.1007/s11239-011-0603-8 1:CAS:528:DC%2BC3MXhtFKrsLjK
-
Girolami A, Vettore S, Bonamigo E, Fabris F. Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes). J Thromb Thrombolysis. 2011;32:474-7.
-
(2011)
J Thromb Thrombolysis
, vol.32
, pp. 474-477
-
-
Girolami, A.1
Vettore, S.2
Bonamigo, E.3
Fabris, F.4
-
98
-
-
33745136094
-
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease
-
DOI 10.1080/17476930500467235, PII L3664X630601564
-
Heller PG, Pecci A, Glembotsky AC, Savoia A, Negro FD, Balduini CL, et al. Unexplained recurrent venous thrombosis in a patient with MYH9-related disease. Platelets. 2006;17:274-5. (Pubitemid 43890799)
-
(2006)
Platelets
, vol.17
, Issue.4
, pp. 274-275
-
-
Heller, P.G.1
Pecci, A.2
Glembotsky, A.C.3
Savoia, A.4
Negro, F.D.5
Balduini, C.L.6
Molinas, F.C.7
-
99
-
-
0025779629
-
Coronary thrombosis in a patient with May-Hegglin anomaly
-
1850954 1:STN:280:DyaK3M3itFSkuw%3D%3D
-
McDunn S, Hartz W Jr, Ts'Ao C, Green D. Coronary thrombosis in a patient with May-Hegglin anomaly. Am J Clin Pathol. 1991;95:715-8.
-
(1991)
Am J Clin Pathol
, vol.95
, pp. 715-718
-
-
McDunn, S.1
Hartz Jr., W.2
Ts'Ao, C.3
Green, D.4
-
100
-
-
77957838801
-
MYH-9 related platelet disorders: Strategies for management and diagnosis
-
21113248 10.1159/000320335
-
Althaus K, Greinacher A. MYH-9 related platelet disorders: strategies for management and diagnosis. Transfus Med Hemother. 2010;37:260-7.
-
(2010)
Transfus Med Hemother.
, vol.37
, pp. 260-267
-
-
Althaus, K.1
Greinacher, A.2
-
101
-
-
75749124291
-
Safety and efficacy of romiplostim in patients with lower-risk myelodysplastic syndrome and thrombocytopenia
-
20008626 1:CAS:528:DC%2BC3cXivFartLg%3D 10.1200/JCO.2009.24.7999
-
Kantarjian H, Fenaux P, Sekeres MA, Becker PS, Boruchov A, Bowen D, et al. Safety and efficacy of romiplostim in patients with lower-risk myelodysplastic syndrome and thrombocytopenia. J Clin Oncol. 2010;28:437-44.
-
(2010)
J Clin Oncol
, vol.28
, pp. 437-444
-
-
Kantarjian, H.1
Fenaux, P.2
Sekeres, M.A.3
Becker, P.S.4
Boruchov, A.5
Bowen, D.6
-
102
-
-
79952011926
-
Subcutaneous or intravenous administration of romiplostim in thrombocytopenic patients with lower risk myelodysplastic. syndromes
-
20945323 1:CAS:528:DC%2BC3MXjt12gsb0%3D 10.1002/cncr.25545
-
Sekeres MA, Kantarjian H, Fenaux P, Becker P, Boruchov A, Guerci-Bresler A, et al. Subcutaneous or intravenous administration of romiplostim in thrombocytopenic patients with lower risk myelodysplastic. syndromes. Cancer. 2011;117:992-1000.
-
(2011)
Cancer
, vol.117
, pp. 992-1000
-
-
Sekeres, M.A.1
Kantarjian, H.2
Fenaux, P.3
Becker, P.4
Boruchov, A.5
Guerci-Bresler, A.6
-
103
-
-
84859567130
-
Romiplostim administration shows reduced megakaryocyte response-capacity and increased myelofibrosis in a mouse model of MYH9-RD
-
22234693 10.1182/blood-2011-08-373811 1:CAS:528:DC%2BC38XlslyjsLg%3D
-
Léon C, Evert K, Dombrowski F, Pertuy F, Eckly A, Laeuffer P, et al. Romiplostim administration shows reduced megakaryocyte response-capacity and increased myelofibrosis in a mouse model of MYH9-RD. Blood. 2012;119:3333-41.
-
(2012)
Blood
, vol.119
, pp. 3333-3341
-
-
Léon, C.1
Evert, K.2
Dombrowski, F.3
Pertuy, F.4
Eckly, A.5
Laeuffer, P.6
|