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1 yielding giant platelets in reduced numbers (macrothrombocytopenia).
2 e, impairing proplatelet release and causing macrothrombocytopenia.
3 )) in ACTN1, a gene implicated in congenital macrothrombocytopenia.
4 aneous loss of Sp1 and Sp3 results in severe macrothrombocytopenia.
5 hrombocytopenia, and 5 associated with aniso/macrothrombocytopenia.
6 e, the mutated allele cosegregating with the macrothrombocytopenia.
7  and deficiency of either protein results in macrothrombocytopenia.
8 d severely prolonged tail-bleeding times and macrothrombocytopenia.
9  display a gray platelet syndrome (GPS)-like macrothrombocytopenia.
10 viduals affected with a dominantly inherited macrothrombocytopenia.
11  bleeding and the laboratory presentation of macrothrombocytopenia.
12 K-specific CK1alpha-deficiency resulted in a macrothrombocytopenia.
13  "large PLTs" of both inherited and acquired macrothrombocytopenias.
14 tion of the TPM4 protein and segregates with macrothrombocytopenia, a disorder characterized by low p
15 ound (double knockout [DKO] mice) had severe macrothrombocytopenia, abnormal megakaryocyte morphology
16 iciency of Rac1 and Cdc42 in MKs resulted in macrothrombocytopenia, abnormal platelet morphology, and
17 ak2 in murine bone marrow is associated with macrothrombocytopenia, altered megakaryocyte ultrastruct
18 balpha subunit, GP Ibbeta(Null) mice display macrothrombocytopenia and a severe bleeding phenotype.
19 inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet alpha-gran
20  inherited bleeding disorder associated with macrothrombocytopenia and alpha-granule-deficient platel
21 eta(-/-) ) in mice resulted in a significant macrothrombocytopenia and an increased extramedullar meg
22        Rare missense mutations in MYH9 cause macrothrombocytopenia and are occasionally associated wi
23 t the Wdr1 locus causes embryonic lethality, macrothrombocytopenia and autoinflammatory disease devel
24 describe a consanguineous family with severe macrothrombocytopenia and bleeding symptoms where exome
25 ple platelet activation pathways, leading to macrothrombocytopenia and bleeding.
26 somal dominant platelet disorders that share macrothrombocytopenia and characteristic leukocyte inclu
27 er Syndrome (BSS), which is characterized by macrothrombocytopenia and impaired platelet function.
28          FlnA(loxP/y) GATA1-Cre males have a macrothrombocytopenia and increased tail bleeding times.
29 he large platelets of a MYH9-RD patient with macrothrombocytopenia and is also diffuse in normal pre/
30 ed by deficiency of platelet alpha-granules, macrothrombocytopenia and marrow fibrosis.
31 letion of Shp2 in the MP lineage resulted in macrothrombocytopenia and platelets being hyper-responsi
32  pleiotropic platelet defect beyond GPS-like macrothrombocytopenia and suggest that this transcriptio
33  GPS, Nbeal2(-/-) mice exhibit splenomegaly, macrothrombocytopenia, and a deficiency of platelet alph
34 e coronary artery disease, hemolytic anemia, macrothrombocytopenia, and bleeding.
35 omain (DAD), are implicated in hearing loss, macrothrombocytopenia, and cardiovascular diseases.
36 An individual with mild developmental delay, macrothrombocytopenia, and susceptibility to infections,
37 tein syndrome (EPS) and Alport syndrome with macrothrombocytopenia (APSM).
38 rupted molecular mechanisms that produce the macrothrombocytopenia are unknown.
39                                              Macrothrombocytopenias are the most important subgroup o
40 cient mice (Pdk1-/-) developed a significant macrothrombocytopenia as compared with wild-type mice (P
41 ous family with a severe autosomal recessive macrothrombocytopenia associated with a thrombocytopathy
42 the megakaryocyte (MK) lineage have a severe macrothrombocytopenia because of accelerated platelet cl
43 cohort exhibited known phenotypes, including macrothrombocytopenia, BM fibrosis, megakaryocyte emperi
44 A in murine megakaryocytes/platelets induces macrothrombocytopenia but also protects against occlusiv
45 th a large spectrum of conditions, including macrothrombocytopenia, called filaminopathies.
46 mbined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain a
47 drome revealed that intellectual disability, macrothrombocytopenia, camptodactyly, structural brain a
48 IIA) heavy chain gene (MYH9) mutations cause macrothrombocytopenia characterized by fewer platelets w
49 te-specific deletion of Srsf3 in mice led to macrothrombocytopenia characterized by megakaryocyte mat
50 f2a-deficient mice (Twf2a(-/-)) display mild macrothrombocytopenia due to a markedly accelerated plat
51 ings reveal that TRPM7 dysfunction may cause macrothrombocytopenia in humans and mice.
52 ired channel function of TRPM7 in MKs causes macrothrombocytopenia in mice (Trpm7(fl/fl-Pf4Cre)) and
53 ted proplatelet formation contributes to the macrothrombocytopenia in mice and most probably in human
54  the Tpm4 locus led to gene dosage-dependent macrothrombocytopenia in mice.
55                                              Macrothrombocytopenia in MYH9-related disease (MYH9-RD)
56                        We found a pronounced macrothrombocytopenia in RhoA-deficient mice, with plate
57 erall, this work suggests a new etiology for macrothrombocytopenia, in which increased RhoA activity
58                                   Hereditary macrothrombocytopenia is a hallmark of Wistar Furth (WF)
59                                              Macrothrombocytopenia is the result of megakaryocyte mat
60 l as 'MYH9-related disease' characterized by macrothrombocytopenia, leukocyte inclusions, and in some
61                                              Macrothrombocytopenia (MTP) is a heterogeneous group of
62              Loss of G6b-B results in severe macrothrombocytopenia, myelofibrosis and aberrant platel
63 cated in the May-Hegglin anomaly and related macrothrombocytopenias, MYH9, encodes myosin-IIA, a prot
64 IIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness.
65 gglin anomaly (MHA) is an autosomal dominant macrothrombocytopenia of unclear pathogenesis characteri
66         Mutations in the MYH9 gene result in macrothrombocytopenia often associated with hemorrhages.
67 to be the principal mechanism underlying the macrothrombocytopenia phenotype.
68         MLL3/4 double-deficient mice develop macrothrombocytopenia; platelets are preactive and pro-a
69 g 4 males in 2 generations, characterized by macrothrombocytopenia, profound bleeding, and mild dyser
70 ocytopenia and cardiomyopathy" (trac) causes macrothrombocytopenia, prolonged bleeding times, anemia,
71 y proportional, this raises the question: do macrothrombocytopenias represent a failure in the interm
72      These studies define a new mechanism of macrothrombocytopenia resulting from dysregulated MK bud
73               The latter was associated with macrothrombocytopenia, shedding of GPIbalpha, impaired p
74 ndrome, a bleeding disorder characterized by macrothrombocytopenia, splenomegaly, and paucity of alph
75 mutations also result in two other FTNS-like macrothrombocytopenia syndromes: Epstein syndrome (EPS)
76 deleted in Jacobsen syndrome, resulting in a macrothrombocytopenia termed Paris-Trousseau syndrome (P
77 PLT production against the backdrop of human macrothrombocytopenias to establish how "large PLTs" obs
78 al Mendelian frequency, but have significant macrothrombocytopenia with approximately 50% reduction i
79  which show deficient Rab isoprenylation and macrothrombocytopenia with few granules and abnormal meg
80          Dnm2(fl/fl) Pf4-Cre mice had severe macrothrombocytopenia with moderately accelerated platel
81 ing the mutant GPIbalpha transgene exhibited macrothrombocytopenia with preserved GPIb surface expres
82 heterozygous and homozygous mutant mice show macrothrombocytopenia with prolonged bleeding times, a d
83 ), a rare bleeding disorder characterized by macrothrombocytopenia, with platelets lacking alpha-gran