ライフサイエンスコーパス: Bloom's syndrome

1 of the human cancer predisposition disorder, Bloom's syndrome.

2 underpin early-onset cancers associated with Bloom's syndrome.

3 d BLM mutation causes the heritable disorder Bloom's syndrome.

4 gesting a basis for the immune deficiency in Bloom's syndrome.

5 s rise to the cancer predisposition disorder Bloom's syndrome.

6 explains many of the cellular phenotypes of Bloom's syndrome.

7 sister chromatid exchange characteristic of Bloom's syndrome.

8 the various defects observed in Werner's and Bloom's syndromes.

9 Mutations in BLM cause Bloom's syndrome, a disorder associated with cancer pred

10 which encodes a RecQ helicase, give rise to Bloom's syndrome, a disorder associated with cancer pred

11 Homozygous inactivation of BLM gives rise to Bloom's syndrome, a disorder associated with genomic ins

12 cular basis of missense mutations that cause Bloom's syndrome, a human RecQ-associated disease.

13 BLM protein, inactivated in individuals with Bloom's syndrome, acts in combination with topoisomerase

14 uplex DNA unwinding helicases, such as human Bloom's syndrome and human Werner's syndrome helicases.

15 of DNA helicases, whose members include the Bloom's syndrome and the Werner's syndrome gene products

16 hich also includes the products of the human Bloom's syndrome and Werner's syndrome genes.

17 coli RecQ protein and the products of human Bloom's syndrome and Werner's syndrome genes.

18 ily of DNA helicases that includes the human Bloom's syndrome and Werner's syndrome proteins.

19 BLM and WRN are mutated in patients with Bloom's syndrome and Werner's syndrome respectively.

20 xeroderma pigmentosum, Cockayne's syndrome, Bloom's syndrome and Werner's syndrome, have been linked

21 activate a process that required functional Bloom's syndrome-associated (BLM) helicase, Mus81 nuclea

22 NA ligase I displayed a phenotype similar to Bloom's syndrome, being immunodeficient, growth retarded

23 HR (breast cancer associated gene, Brca2, or Bloom's syndrome, Blm) for sensitivity to trichostatin A

24 The gene mutated in Bloom's syndrome, BLM, encodes a DNA helicase (BLM) of t

25 The gene mutated in Bloom's syndrome, BLM, encodes a member of the RecQ fami

26 The product of the gene mutated in Bloom's syndrome, BLM, is a 3'-5' DNA helicase belonging

27 Bloom's syndrome (BS) and Fanconi anemia (FA) are autoso

28 Werner's syndrome (WS) and Bloom's syndrome (BS) are cancer predisposition disorder

29 Fanconi Anemia (FA) and Bloom's Syndrome (BS) are genetic disorders characterize

30 Fanconi anemia (FA) and Bloom's syndrome (BS) are rare hereditary chromosomal in

31 enesis system demonstrate that extracts from Bloom's syndrome (BS) cells are unable to use microhomol

32 The genomic instability of persons with Bloom's syndrome (BS) features particularly an increased

33 Mutation of the Bloom's syndrome (BS) gene, BLM, results in genomic inst

34 Bloom's syndrome (BS) is a disorder associated with chro

35 Bloom's syndrome (BS) is a genetic disorder associated w

36 Bloom's syndrome (BS) is a genetic disorder characterize

37 Bloom's syndrome (BS) is a human genetic disorder associ

38 Bloom's syndrome (BS) is a rare autosomal recessive diso

39 Bloom's syndrome (BS) is a rare autosomal recessive diso

40 Bloom's syndrome (BS) is a rare autosomal recessive gene

41 Bloom's syndrome (BS) is a rare human genetic disorder c

42 Bloom's syndrome (BS) is a rare recessive disorder cause

43 Bloom's syndrome (BS) is an autosomal recessive disorder

44 Bloom's syndrome (BS) is an autosomal recessive disorder

45 Bloom's syndrome (BS) is an autosomal recessive disorder

46 Bloom's syndrome (BS) is an autosomal recessive disorder

47 Bloom's syndrome (BS), a disorder associated with genomi

48 als with the cancer predisposition disorder, Bloom's syndrome (BS).

49 on of MUS81 and GEN1, or SLX4 and GEN1, from Bloom's syndrome cells results in severe chromosome abno

50 Here we deplete these nucleases from Bloom's syndrome cells to analyse human cells compromise

51 r SLX4 reduces the high frequency of SCEs in Bloom's syndrome cells, indicating that MUS81 and SLX4 p

52 when both MUS81 and SLX4 were depleted from Bloom's syndrome cells, suggesting that GEN1 can compens

53 chromatid exchanges (SCEs) and patients with Bloom's syndrome develop a broad spectrum of early-onset

54 The BLM gene mutated in Bloom's syndrome encodes a DNA helicase involved in the

55 BLM, the gene defective in Bloom's syndrome, encodes a 159-kDa protein possessing D

56 BLM, the gene that is defective in Bloom's syndrome, encodes a protein homologous to RecQ s

57 Analysis of BLM in Bloom's syndrome fibroblasts or by depletion of BLM from

58 zygous for a targeted mutation in the murine Bloom's syndrome gene (Blm) are developmentally delayed

59 The Bloom's syndrome gene (BLM) plays a pivotal role in the

60 Moreover, the Bloom's syndrome gene (BLM), discovered before WRN, is a

61 es a DNA helicase with homology to the human Bloom's syndrome gene BLM and the Werner's syndrome gene

62 The Bloom's syndrome gene product, BLM, belongs to the RecQ

63 rotein complex stimulated the ability of the Bloom's syndrome gene product, BLM, to process Holliday

64 ng of the gene defective in individuals with Bloom's syndrome has revealed a link between DNA helicas

65 Bloom's syndrome helicase (BLM) is a member of the RecQ

66 The Bloom's syndrome helicase (BLM), mutations of which lead

67 The conserved BTR complex, composed of the Bloom's syndrome helicase (BLM), topoisomerase IIIalpha,

68 Sgs1, the orthologue of human Bloom's syndrome helicase BLM, is a yeast DNA helicase f

69 r mutagen-sensitive) encoding the Drosophila Bloom's syndrome helicase homolog (DmBLM) and the Ku70 g

70 Genetic analysis of the Drosophila Bloom's syndrome helicase homolog (mus309/DmBLM) indicat

71 cy for either of the genomic stability genes Bloom's syndrome helicase or DNA ligase 4, and the effec

72 The Bloom's syndrome helicase, BLM, is a member of the highl

73 with a genetic background deficient for the Bloom's syndrome helicase, such heterozygous mutants seg

74 similarities between Fanconi Anemia (FA) and Bloom's Syndrome, identifying FANCM as the anchor for bo

75 Bloom's syndrome is a genetic disorder characterized by

76 Bloom's syndrome is a hereditary cancer-predisposition d

77 Bloom's syndrome is a human autosomal genetic disorder c

78 Bloom's syndrome is a rare autosomal recessive disorder

79 Bloom's syndrome is a rare autosomal recessive genetic d

80 Bloom's syndrome is a recessive human genetic disorder a

81 A defining feature of Bloom's syndrome is an elevated frequency of sister chro

82 Bloom's syndrome is caused by mutations in the BLM gene.

83 A human genetic disorder, Bloom's syndrome, is associated with a defect in one mem

84 ant role in DNA replication, suggesting that Bloom's syndrome may be the consequence of defective DNA

85 BLM, a RecQ family DNA helicase mutated in Bloom's Syndrome, participates in homologous recombinati

86 Cells from Bloom's syndrome patients display genome instability due

87 BLM, the protein mutated in Bloom's syndrome, possesses a helicase activity that can

88 of mouse embryonic stem (ES) cells that are Bloom's syndrome protein (Blm) deficient.

89 ed the high rate of mitotic recombination in Bloom's syndrome protein (Blm)-deficient ES cells to gen

90 acting checkpoint helicase) and the BLM (the Bloom's syndrome protein) helicase decorate ultrafine hi

91 BLM (Bloom's syndrome protein), a RecQ DNA helicase, and topo

92 Mus81 is essential in the absence of Bloom's syndrome Rqh1 helicase and is required for produ

93 In Bloom's syndrome, this phenotype manifests as an elevate