ライフサイエンスコーパス: Diamond-Blackfan anemia

1 similar mutations in GATA1 in patients with Diamond-Blackfan anemia.

2 and an erythroid phenotype highly similar to Diamond-Blackfan anemia.

3 ias, congenital dyserythropoietic anemia, or Diamond-Blackfan anemia.

4 alies in ribosome biogenesis, reminiscent of Diamond-Blackfan anemia.

5 evere congenital neutropenia, RASopathy, and Diamond-Blackfan anemia.

6 one, a key driver of ribosomopathies such as Diamond Blackfan anemia?

7 ther genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hyp

8 proteins have thus far been associated with Diamond-Blackfan anemia, a rare inherited bone marrow fa

9 and inherited GATA1 mutations contribute to Diamond-Blackfan anemia, acute megakaryoblastic leukemia

10 ive (early termination of) erythropoiesis in Diamond Blackfan anemia and del(5q) myelodysplasia, diso

11 erythroid defects in ribosomopathies in both Diamond-Blackfan anemia and 5q- syndrome.

12 nts (235 acquired, 85 Fanconi anemia, and 10 Diamond-Blackfan anemia) and their unrelated donors who

13 are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome.

14 eformities resembling those of patients with Diamond-Blackfan anemia, and die in midgestation.

15 Cells from patients with SDS or Diamond-Blackfan anemia are hypersensitive to low doses

16 eover, patients with RPL11-haploinsufficient Diamond-Blackfan anemia as well as CD34+ progenitors wit

17 plicated in 5q- myelodysplastic syndrome and Diamond Blackfan anemia, but the cellular and pathophysi

18 omal machinery cause ribosomopathies such as Diamond Blackfan anemia, classically linked to impaired

19 Diamond Blackfan Anemia (DBA) is a congenital bone marro

20 Diamond Blackfan anemia (DBA) is a congenital disorder w

21 Diamond Blackfan Anemia (DBA) is a rare macrocytic red b

22 Diamond Blackfan anemia (DBA) is an inherited bone marro

23 Diamond Blackfan anemia (DBA) is an inherited bone marro

24 Diamond Blackfan anemia (DBA) is an inherited erythrobla

25 potent stem cells (iPSs) from fibroblasts of Diamond Blackfan anemia (DBA) patients with 2 distinct r

26 s in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often

27 Similar to Diamond Blackfan anemia (DBA), an inherited red cell apl

28 Finally, RNA from patients with Diamond Blackfan Anemia (DBA), shows, on average, a lowe

29 linical use of steroids for the treatment of Diamond Blackfan anemia (DBA), the mechanisms through wh

30 were recently identified in 10 patients with Diamond Blackfan anemia (DBA).

31 erythroid development observed in congenital Diamond-Blackfan anemia (DBA) and acquired 5q-syndrome.

32 the common basis for the anemia observed in Diamond-Blackfan anemia (DBA) and myelodysplastic syndro

33 cell transfusion dependence in patients with Diamond-Blackfan anemia (DBA) and myelodysplastic syndro

34 as been implicated in the pathophysiology of Diamond-Blackfan anemia (DBA) and the 5q-syndrome, a sub

35 al manifestations; we use the well-described Diamond-Blackfan anemia (DBA) as a specific example to h

36 at some patients with the erythroblastopenia Diamond-Blackfan anemia (DBA) have mutations in ribosoma

37 Diamond-Blackfan Anemia (DBA) is a bone marrow failure d

38 Diamond-Blackfan anemia (DBA) is a cancer-prone inherite

39 Diamond-Blackfan anemia (DBA) is a congenital BM failure

40 Diamond-Blackfan anemia (DBA) is a congenital bone marro

41 Diamond-Blackfan anemia (DBA) is a congenital erythrobla

42 Diamond-Blackfan anemia (DBA) is a congenital erythroid

43 Diamond-Blackfan anemia (DBA) is a congenital hypoprolif

44 Diamond-Blackfan anemia (DBA) is a disorder characterize

45 Diamond-Blackfan anemia (DBA) is a hypoplastic anemia ch

46 Diamond-Blackfan anemia (DBA) is a rare congenital hypop

47 Diamond-Blackfan anemia (DBA) is a rare congenital red-c

48 Diamond-Blackfan Anemia (DBA) is a rare, congenital hypo

49 Diamond-Blackfan anemia (DBA) is an inherited disorder c

50 Diamond-Blackfan anemia (DBA) is associated with develop

51 Diamond-Blackfan anemia (DBA) is characterized by red ce

52 The congenital bone marrow failure syndrome Diamond-Blackfan anemia (DBA) is typically associated wi

53 We follow a patient with Diamond-Blackfan anemia (DBA) mosaic for a pathogenic RP

54 teins in transfusion-dependent patients with Diamond-Blackfan anemia (DBA) to determine if these inte

55 Diamond-Blackfan anemia (DBA) was the first ribosomopath

56 riants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syn

57 Diamond-Blackfan anemia (DBA), a congenital bone-marrow-

58 Diamond-Blackfan anemia (DBA), a congenital erythroblast

59 e mutated in 25% of the patients affected by Diamond-Blackfan anemia (DBA), a congenital erythroblast

60 nitor development and clinical phenotypes in Diamond-Blackfan anemia (DBA), a rare ribosomopathy with

61 in several ribosomal proteins (RPs) lead to Diamond-Blackfan anemia (DBA), a syndrome characterized

62 Diamond-Blackfan anemia (DBA), an inherited bone marrow

63 enita (DC), cartilage-hair hypoplasia (CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syn

64 n (Rp) gene haploinsufficiency can result in Diamond-Blackfan Anemia (DBA), characterized by defectiv

65 y occurs in diverse human diseases including Diamond-Blackfan anemia (DBA), congenital asplenia and T

66 s (RPs) occur in 50%-70% of individuals with Diamond-Blackfan anemia (DBA), establishing the disease

67 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were f

68 on of NLK contributes to the pathogenesis of Diamond-Blackfan anemia (DBA), reducing c-myb expression

69 iduals with the bone marrow failure syndrome Diamond-Blackfan anemia (DBA).

70 bosomal protein genes in the human result in Diamond-Blackfan anemia, demonstrating that metabolite d

71 e biogenesis: Shwachman-Diamond syndrome and Diamond-Blackfan anemia genes.

72 ata implicate a residue in Rps26 involved in Diamond Blackfan Anemia in mediating the effects of Na(+

73 Diamond-Blackfan anemia is a congenital form of PRCA.

74 ratosis congenita), and ribosome biogenesis (Diamond-Blackfan anemia, Shwachman-Diamond syndrome).

75 Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and

76 overload conditions, including in particular Diamond-Blackfan anemia, sideroblastic anemia, and hered

77 Diamond-Blackfan anemia syndrome (DBAS) is an inherited

78 In contrast to observations from Diamond-Blackfan anemia, we detected no evidence of sign

79 ology of a group of genetic diseases such as Diamond Blackfan Anemia which are called ribosomopathies

80 n of metoclopramide therapy in patients with Diamond-Blackfan anemia who were refractory to low doses