ライフサイエンスコーパス: Nijmegen

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

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

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

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

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

6 Nijmegen breakage syndrome (NBS) is an autosomal recessi

7 Nijmegen breakage syndrome (NBS) is an autosomal recessi

8 Nijmegen breakage syndrome (NBS) is characterised by mic

9 Nijmegen breakage syndrome (NBS) is characterized by ext

10 Nijmegen breakage syndrome (NBS) is characterized by rad

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

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

13 Nijmegen breakage syndrome arises from hypomorphic mutat

14 Nijmegen breakage syndrome is a disease characterized by

15 Nijmegen breakage syndrome, a chromosomal instability di

16 veness in everyday life scenarios (Amsterdam-Nijmegen Everyday Language Test A-scale) from baseline t

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

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

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

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

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

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

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

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

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

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

27 he University Medical Centers of Utrecht and Nijmegen, the Netherlands.

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

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

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

31 ic of the Radboud University Medical Center, Nijmegen, the Netherlands, a tertiary referral center fo

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

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

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

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

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

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

38 g DNA from psoriasis cases and controls from Nijmegen and Erlangen.

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

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

41 e from March 29, 2006, to April 26, 2013, in Nijmegen, the Netherlands, and Cologne, Germany.

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

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

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

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

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

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

48 S. pneumoniae isolated from IPD patients in Nijmegen between 2001 and 2011.

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

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

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

52 They are quantified in the Bethesda assay or Nijmegen-modified Bethesda assay by their ability to neu

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

54 equences associated with cancer predisposing Nijmegen breakage syndrome mutations.

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

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

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

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

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

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

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

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

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

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

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

66 The Nijmegen breakage syndrome protein Nbs1 is a component o

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

68 BU/mL (2417.7 +/- 3.8 nM) as measured by the Nijmegen method.

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

70 from the NBS cohort and RA patients from the Nijmegen cohort homozygous for the C allele (p = 0.0141

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

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

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

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

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

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

77 gation is embedded in the Radboud University Nijmegen Diffusion Tensor and Magnetic Resonance Cohort

78 k's research group at the Radboud University Nijmegen Medical Centre in The Netherlands advances our

79 ough 50 years admitted to Radboud University Nijmegen Medical Centre, the Netherlands, between Januar

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

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

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

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