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 immunodeficiencies or ataxia telangiectasia/Nijmegen breakage syndromes.

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

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

7 Here, we provide novel evidence that Nijmegen breakage syndrome 1 (NBS1) protein, a well-stud

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

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

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

11 igmentosum complementation group C (XPC) and Nijmegen breakage syndrome 1 (Nbs1).

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

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

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

15 Nijmegen breakage syndrome, a chromosomal instability di

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

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

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

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

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

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

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

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

24 Nijmegen breakage syndrome arises from hypomorphic mutat

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

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

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

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

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

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

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

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

33 Nijmegen breakage syndrome is a disease characterized by

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

35 equences associated with cancer predisposing Nijmegen breakage syndrome mutations.

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

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

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

39 i anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS)

40 l features with the HR deficiency disorders, Nijmegen Breakage Syndrome (NBS) and Warsaw Breakage Syn

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

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

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

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

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

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

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

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

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

50 Nijmegen breakage syndrome (NBS) is an autosomal recessi

51 Nijmegen breakage syndrome (NBS) is an autosomal recessi

52 Nijmegen breakage syndrome (NBS) is characterised by mic

53 Nijmegen breakage syndrome (NBS) is characterized by ext

54 Nijmegen breakage syndrome (NBS) is characterized by rad

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

72 The Nijmegen breakage syndrome protein Nbs1 is a component o

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

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

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

76 mage repair gene NBN is the genetic cause of Nijmegen breakage syndrome, which is associated with pre

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