ライフサイエンスコーパス: Nijmegen breakage syndrome

1 rent from normal in cells from patients with Nijmegen breakage syndrome.

2 wo human diseases, ataxia telangiectasia and Nijmegen breakage syndrome.

3 , the protein encoded by the gene mutated in Nijmegen breakage syndrome.

4 the assembly of APBs, we examine the role of Nijmegen breakage syndrome 1 (NBS1) and TRF1 in this pro

5 Nijmegen breakage syndrome 1 (NBS1) is a component of th

6 The Nijmegen breakage syndrome 1 (Nbs1) subunit of the Mre11

7 rylation is IR-inducible, depends on ATM and Nijmegen breakage syndrome 1 (NBS1), and is required for

8 RCA1 binding directly to DNA breaks requires Nijmegen breakage syndrome 1 (NBS1).

9 quence, nuclear autoantogenic sperm protein, Nijmegen breakage syndrome 1 (Nibrin), ribosomal protein

10 bination 11 (Mre11)/DNA repair protein Rad50/Nijmegen breakage syndrome 1 proteins] to sites of DNA d

11 ugh reduced activation of the repair protein Nijmegen Breakage Syndrome-1 but not p53.

12 Nijmegen breakage syndrome, a chromosomal instability di

13 The gene mutated in Nijmegen breakage syndrome, a chromosome instability dis

14 unction of the NBS1 gene are responsible for Nijmegen breakage syndrome, a rare autosomal recessive h

15 Cells derived from patients with Nijmegen breakage syndrome and ataxia telangiectasia-lik

16 ein is specifically mutated in patients with Nijmegen breakage syndrome and forms a complex with the

17 e ATR signalling, including Seckel syndrome, Nijmegen breakage syndrome and MCPH-1-dependent primary

18 ts with SCID, XLA, ataxia-telangiectasia and Nijmegen-breakage-syndrome and thus facilitates effectiv

19 haly and growth delay, including non-ATR-SS, Nijmegen breakage syndrome, and MCPH1 (microcephaly, pri

20 The Werner syndrome and the Nijmegen breakage syndrome are recessive genetic disorde

21 Nijmegen breakage syndrome arises from hypomorphic mutat

22 nosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodefici

23 TM-controlled pathway includes the Mre11 and Nijmegen breakage syndrome complex but not the Chk2 kina

24 f the disease-causing allele responsible for Nijmegen breakage syndrome encodes a protein with residu

25 homozygous for the hypomorphic allele of the Nijmegen breakage syndrome gene (Nbs1(DeltaB)) and also

26 The product of the Nijmegen breakage syndrome gene (NBS1) plays crucial rol

27 The Nijmegen breakage syndrome gene product (Nbs1) was shown

28 which in turn triggers direct binding to the Nijmegen breakage syndrome gene product, Nbs1.

29 The Nbs1 protein is mutated in Nijmegen breakage syndrome individuals and is part of th

30 Nijmegen breakage syndrome is a disease characterized by

31 related disorders ataxia telangiectasia and Nijmegen breakage syndrome lacking functional Atm and Nb

32 equences associated with cancer predisposing Nijmegen breakage syndrome mutations.

33 The chromosomal instability syndromes Nijmegen breakage syndrome (NBS) and ataxia telangiectas

34 Cell lines from Nijmegen Breakage Syndrome (NBS) and ataxia telangiectas

35 or the human radiation sensitivity disorders Nijmegen breakage syndrome (NBS) and ataxia-telangiectas

36 Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic d

37 Human Nijmegen breakage syndrome (NBS) cells and those derived

38 icient to provide this stimulatory effect in Nijmegen breakage syndrome (NBS) cells.

39 In this study, we show that carriers of Nijmegen Breakage Syndrome (NBS) have a distinct gene ex

40 Nijmegen breakage syndrome (NBS) is a rare autosomal rec

41 Nijmegen breakage syndrome (NBS) is a rare autosomal rec

42 Nijmegen breakage syndrome (NBS) is a rare autosomal rec

43 Nijmegen breakage syndrome (NBS) is a rare chromosomal-i

44 Nijmegen breakage syndrome (NBS) is a rare human disease

45 Nijmegen breakage syndrome (NBS) is an autosomal recessi

46 Nijmegen breakage syndrome (NBS) is an autosomal recessi

47 Nijmegen breakage syndrome (NBS) is characterised by mic

48 Nijmegen breakage syndrome (NBS) is characterized by ext

49 Nijmegen breakage syndrome (NBS) is characterized by rad

50 The disorder Nijmegen breakage syndrome (NBS) results from mutations

51 e inherited chromosomal instability disorder Nijmegen breakage syndrome (NBS) results from truncating

52 The Nijmegen breakage syndrome (NBS), a chromosomal instabil

53 Ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), and AT-like disorder f

54 recessive diseases ataxia telangiectasia and Nijmegen breakage syndrome (NBS), respectively, are esse

55 uman ataxia-telangiectasia-like disorder and Nijmegen breakage syndrome (NBS), respectively.

56 axia-telangiectasia-like disorder (ATLD) and Nijmegen breakage syndrome (NBS), respectively.

57 Nijmegen breakage syndrome (NBS), which in the past also

58 T), caused by mutations in the ATM gene, and Nijmegen breakage syndrome (NBS), with mutations in the

59 ction can lead to A-T-like disease (ATLD) or Nijmegen breakage syndrome (NBS).

60 a C-terminal motif, which is also present in Nijmegen breakage syndrome (NBS)1.

61 dent on ataxia-telangiectasia mutated (ATM), Nijmegen breakage syndrome (NBS1), or wild-type p53.

62 lving impaired DNA-damage responses, such as Nijmegen breakage syndrome (OMIM 251260) and LIG4 syndro

63 The gene product defective in Nijmegen breakage syndrome, p95, associates with two oth

64 We report that the Nijmegen breakage syndrome protein (NBS1) and histone ga

65 Here we report that the Nijmegen breakage syndrome protein (Nbs1) and phosphoryl

66 ouble-strand break (DSB) repair complex, the Nijmegen breakage syndrome protein (NBS1), is associated

67 The Nijmegen breakage syndrome protein Nbs1 is a component o

68 ivate an S phase checkpoint by modifying the Nijmegen breakage syndrome protein, known to mediate the

69 lex, the implication of the human complex in Nijmegen breakage syndrome reveals its role in cell cycl

70 hich is mutated in the human genetic disease Nijmegen breakage syndrome, serves as the regulatory sub

71 joint rejoining in cells from patients with Nijmegen breakage syndrome, which results from mutations