ライフサイエンスコーパス: macrothrombocytopenia

1 )) in ACTN1, a gene implicated in congenital macrothrombocytopenia.

2 aneous loss of Sp1 and Sp3 results in severe macrothrombocytopenia.

3 hrombocytopenia, and 5 associated with aniso/macrothrombocytopenia.

4 e, the mutated allele cosegregating with the macrothrombocytopenia.

5 and deficiency of either protein results in macrothrombocytopenia.

6 d severely prolonged tail-bleeding times and macrothrombocytopenia.

7 display a gray platelet syndrome (GPS)-like macrothrombocytopenia.

8 viduals affected with a dominantly inherited macrothrombocytopenia.

9 bleeding and the laboratory presentation of macrothrombocytopenia.

10 "large PLTs" of both inherited and acquired macrothrombocytopenias.

11 tion of the TPM4 protein and segregates with macrothrombocytopenia, a disorder characterized by low p

12 iciency of Rac1 and Cdc42 in MKs resulted in macrothrombocytopenia, abnormal platelet morphology, and

13 ak2 in murine bone marrow is associated with macrothrombocytopenia, altered megakaryocyte ultrastruct

14 balpha subunit, GP Ibbeta(Null) mice display macrothrombocytopenia and a severe bleeding phenotype.

15 inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet alpha-gran

16 inherited bleeding disorder associated with macrothrombocytopenia and alpha-granule-deficient platel

17 eta(-/-) ) in mice resulted in a significant macrothrombocytopenia and an increased extramedullar meg

18 Rare missense mutations in MYH9 cause macrothrombocytopenia and are occasionally associated wi

19 t the Wdr1 locus causes embryonic lethality, macrothrombocytopenia and autoinflammatory disease devel

20 describe a consanguineous family with severe macrothrombocytopenia and bleeding symptoms where exome

21 ple platelet activation pathways, leading to macrothrombocytopenia and bleeding.

22 somal dominant platelet disorders that share macrothrombocytopenia and characteristic leukocyte inclu

23 er Syndrome (BSS), which is characterized by macrothrombocytopenia and impaired platelet function.

24 FlnA(loxP/y) GATA1-Cre males have a macrothrombocytopenia and increased tail bleeding times.

25 he large platelets of a MYH9-RD patient with macrothrombocytopenia and is also diffuse in normal pre/

26 ed by deficiency of platelet alpha-granules, macrothrombocytopenia and marrow fibrosis.

27 letion of Shp2 in the MP lineage resulted in macrothrombocytopenia and platelets being hyper-responsi

28 pleiotropic platelet defect beyond GPS-like macrothrombocytopenia and suggest that this transcriptio

29 GPS, Nbeal2(-/-) mice exhibit splenomegaly, macrothrombocytopenia, and a deficiency of platelet alph

30 e coronary artery disease, hemolytic anemia, macrothrombocytopenia, and bleeding.

31 tein syndrome (EPS) and Alport syndrome with macrothrombocytopenia (APSM).

32 rupted molecular mechanisms that produce the macrothrombocytopenia are unknown.

33 Macrothrombocytopenias are the most important subgroup o

34 ous family with a severe autosomal recessive macrothrombocytopenia associated with a thrombocytopathy

35 the megakaryocyte (MK) lineage have a severe macrothrombocytopenia because of accelerated platelet cl

36 A in murine megakaryocytes/platelets induces macrothrombocytopenia but also protects against occlusiv

37 f2a-deficient mice (Twf2a(-/-)) display mild macrothrombocytopenia due to a markedly accelerated plat

38 ings reveal that TRPM7 dysfunction may cause macrothrombocytopenia in humans and mice.

39 ired channel function of TRPM7 in MKs causes macrothrombocytopenia in mice (Trpm7(fl/fl-Pf4Cre)) and

40 ted proplatelet formation contributes to the macrothrombocytopenia in mice and most probably in human

41 the Tpm4 locus led to gene dosage-dependent macrothrombocytopenia in mice.

42 Macrothrombocytopenia in MYH9-related disease (MYH9-RD)

43 We found a pronounced macrothrombocytopenia in RhoA-deficient mice, with plate

44 Hereditary macrothrombocytopenia is a hallmark of Wistar Furth (WF)

45 Macrothrombocytopenia is the result of megakaryocyte mat

46 l as 'MYH9-related disease' characterized by macrothrombocytopenia, leukocyte inclusions, and in some

47 Macrothrombocytopenia (MTP) is a heterogeneous group of

48 cated in the May-Hegglin anomaly and related macrothrombocytopenias, MYH9, encodes myosin-IIA, a prot

49 IIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness.

50 gglin anomaly (MHA) is an autosomal dominant macrothrombocytopenia of unclear pathogenesis characteri

51 g 4 males in 2 generations, characterized by macrothrombocytopenia, profound bleeding, and mild dyser

52 ocytopenia and cardiomyopathy" (trac) causes macrothrombocytopenia, prolonged bleeding times, anemia,

53 y proportional, this raises the question: do macrothrombocytopenias represent a failure in the interm

54 The latter was associated with macrothrombocytopenia, shedding of GPIbalpha, impaired p

55 ndrome, a bleeding disorder characterized by macrothrombocytopenia, splenomegaly, and paucity of alph

56 mutations also result in two other FTNS-like macrothrombocytopenia syndromes: Epstein syndrome (EPS)

57 deleted in Jacobsen syndrome, resulting in a macrothrombocytopenia termed Paris-Trousseau syndrome (P

58 PLT production against the backdrop of human macrothrombocytopenias to establish how "large PLTs" obs

59 al Mendelian frequency, but have significant macrothrombocytopenia with approximately 50% reduction i

60 which show deficient Rab isoprenylation and macrothrombocytopenia with few granules and abnormal meg

61 Dnm2(fl/fl) Pf4-Cre mice had severe macrothrombocytopenia with moderately accelerated platel

62 heterozygous and homozygous mutant mice show macrothrombocytopenia with prolonged bleeding times, a d

63 ), a rare bleeding disorder characterized by macrothrombocytopenia, with platelets lacking alpha-gran