ライフサイエンスコーパス: severe congenital neutropenia

1 ulocyte CSF (G-CSF, the standard of care for severe congenital neutropenia).

2 ted in leukemic progression in patients with severe congenital neutropenia.

3 e course in nearly half of all patients with severe congenital neutropenia.

4 ts with acute myeloid leukemia evolving from severe congenital neutropenia.

5 t of acute myeloid leukemia in patients with severe congenital neutropenia.

6 trophil numbers are cyclic hematopoiesis and severe congenital neutropenia.

7 ic neutropenia and most of the patients with severe congenital neutropenia.

8 myeloid progenitor cells in both cyclic and severe congenital neutropenia.

9 with acute myeloid leukemia associated with severe congenital neutropenia.

10 e growth retardation, facial dysmorphism and severe congenital neutropenia.

11 ome), ELANE mutation (Elastase deficiency or Severe Congenital Neutropenia 1), and C5 deficiency Fort

12 n linked to the development of monosomy 7 in severe congenital neutropenia and aplastic anemia.

13 ell functions was confirmed in patients with severe congenital neutropenia and autoimmune neutropenia

14 are present in approximately 50% of cases of severe congenital neutropenia and nearly all cases of cy

15 We aimed to characterize a patient with severe congenital neutropenia and syndromic features wit

16 otease neutrophil elastase, cause cyclic and severe congenital neutropenia, and recent evidence indic

17 Severe congenital neutropenia as well as primary myelofi

18 stase are probably the most common cause for severe congenital neutropenia as well as the cause for s

19 se model of disease pathogenesis in cases of severe congenital neutropenia associated with ELA2 mutat

20 Among other genes, severe congenital neutropenia can also result from mutat

21 Certain patients with severe congenital neutropenia carry mutations in the GFI

22 ants of CLPB (caseinolytic peptidase B) in 5 severe congenital neutropenia cases, with 5 more cases i

23 inherited bone marrow failure syndrome with severe congenital neutropenia (CN) caused by autosomal r

24 Severe congenital neutropenia (CN) is a preleukemic bone

25 downregulated in granulocytic progenitors of severe congenital neutropenia (CN) patients.

26 in myeloid cells and plasma of patients with severe congenital neutropenia (CN).

27 The mutations causing severe congenital neutropenia consist of amino acid miss

28 Severe congenital neutropenia consists of static neutrop

29 RECENT FINDINGS: The category of severe congenital neutropenia continues to expand.

30 ts with acute myeloid leukemia evolving from severe congenital neutropenia, disrupted Gfi-1 up-regula

31 nia associated with ELA2 mutations and place severe congenital neutropenia in a growing list of human

32 ounts oscillate with a 21-day frequency, and severe congenital neutropenia, in which static neutropen

33 Severe congenital neutropenia is a heritable human disor

34 Severe congenital neutropenia is an inborn disorder of g

35 Severe congenital neutropenia presents with recurrent in

36 , Fanconi anemia, GATA2-deficiency syndrome, severe congenital neutropenia, RASopathy, and Diamond-Bl

37 ases of cyclic neutropenia and most cases of severe congenital neutropenia result from heterozygous g

38 i-1 mutant, N382S, which was associated with severe congenital neutropenia, resulted in premature apo

39 own to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease

40 ase complex (chronic granulomatous disease), severe congenital neutropenia (SCN) and leukocyte adhesi

41 In patients with severe congenital neutropenia (SCN) and mice with growth

42 Severe congenital neutropenia (SCN) and Shwachman-Diamon

43 tor receptor (G-CSFR) in the pathogenesis of severe congenital neutropenia (SCN) and the subsequent d

44 Patients with severe congenital neutropenia (SCN) are at increased ris

45 the G-CSF receptor (G-CSFR) in patients with severe congenital neutropenia (SCN) are postulated to co

46 Severe congenital neutropenia (SCN) evolves to secondary

47 A subgroup of patients with severe congenital neutropenia (SCN) has been shown to ha

48 Severe congenital neutropenia (SCN) is a BM failure synd

49 Severe congenital neutropenia (SCN) is a life-threatenin

50 Severe congenital neutropenia (SCN) is a rare disease di

51 Severe congenital neutropenia (SCN) is a syndrome charac

52 Severe congenital neutropenia (SCN) is an inborn disorde

53 Severe congenital neutropenia (SCN) is an inborn disorde

54 Severe congenital neutropenia (SCN) is characterized by

55 Severe congenital neutropenia (SCN) is characterized by

56 Severe congenital neutropenia (SCN) is characterized by

57 Severe congenital neutropenia (SCN) is characterized by

58 Severe congenital neutropenia (SCN) is frequently associ

59 Severe congenital neutropenia (SCN) is often associated

60 The molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to

61 The analysis of individuals with severe congenital neutropenia (SCN) may shed light on th

62 Here we generate mouse models of human severe congenital neutropenia (SCN) using patient-derive

63 Severe congenital neutropenia (SCN) was first described

64 Severe congenital neutropenia (SCN) was originally descr

65 (G-CSFR) occur in a subset of patients with severe congenital neutropenia (SCN) who develop acute my

66 ion (HSCT) is the only curative treatment of severe congenital neutropenia (SCN), but data on outcome

67 Two hereditary human leukemia syndromes are severe congenital neutropenia (SCN), caused by mutations

68 In patients with severe congenital neutropenia (SCN), sepsis mortality is

69 ich mislocates to the nucleus and results in severe congenital neutropenia (SCN).

70 e, ELANE, cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN).

71 s the only curative option for patients with severe congenital neutropenia (SCN).

72 on mutations are found in some patients with severe congenital neutropenia (SCN).

73 identified in the majority of patients with severe congenital neutropenia (SCN).

74 reditary neutropenia, cyclic neutropenia and severe congenital neutropenia (SCN).

75 stase (NE) are present in most patients with severe congenital neutropenia (SCN).

76 ed with increased frequency in patients with severe congenital neutropenia (SCN).

77 in more than 15 genes are now known to cause severe congenital neutropenia (SCN); however, the pathol

78 and most cases of the pre-leukemic disorder severe congenital neutropenia (SCN; ref. 3) in humans.

79 utrophil elastase), the most common cause of severe congenital neutropenia (SCN; ref. 3).

80 ase-beta or G6PC3) deficiency, also known as severe congenital neutropenia syndrome 4, is characteriz

81 Kostmann disease is an inherited severe congenital neutropenia syndrome associated with l

82 articularly in mutant SRP54(G226E) linked to severe congenital neutropenia, uncouples the SRP/SR GTPa

83 ounts for the different clinical phenotypes (severe congenital neutropenia versus cyclic neutropenia)

84 hic DBF4 mutation causes autosomal-recessive severe congenital neutropenia with syndromic features.

85 ent studies of the molecular pathogenesis of severe congenital neutropenia, with an emphasis on those