ライフサイエンスコーパス: Bloom's syndrome

1 BLM, defects in which cause the cancer-prone Bloom's Syndrome.

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

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

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

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

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

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

8 sister chromatid exchange characteristic of Bloom's syndrome.

9 in the genetic disorders Fanconi anemia and Bloom's syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

25 Bloom's syndrome (BLM) helicase together with exonucleas

26 Human Bloom's syndrome (BLM, RecQ family) helicase plays centr

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

72 components of the polymerase alpha and BTR (Bloom's syndrome helicase (BLM), topoisomerase IIIalpha,

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

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

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

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

77 Here, we define an essential role for the Bloom's syndrome helicase, BLM, in signaling to the absc

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

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

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

81 lausible reason for cancer predisposition in Bloom's syndrome individuals.

82 Bloom's syndrome is a genetic disorder characterized by

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

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

85 Bloom's syndrome is a rare autosomal recessive disorder

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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