ライフサイエンスコーパス: Bloom syndrome

1 predisposition syndromes Werner syndrome and Bloom syndrome.

2 e cancer-prone disorders Werner syndrome and Bloom syndrome.

3 rotein (BLM) is a 3'-5' helicase, mutated in Bloom syndrome.

4 e to the pathogenesis of Werner syndrome and Bloom syndrome.

5 stability, which are prominent in Werner and Bloom syndromes.

6 Mutations in BLM give rise to Bloom syndrome, a disease that is characterized by an el

7 f BLM, a helicase of the RecQ family, causes Bloom syndrome, a genetic disorder with a strong predisp

8 Bloom Syndrome, a rare human disorder characterized by g

9 a predisposition to cancer are hallmarks of Bloom syndrome, an autosomal recessive disease arising f

10 in ES cells lacking the gene responsible for Bloom syndrome, an inherited DNA repair defect that resu

11 enetic disorders, including Werner Syndrome, Bloom Syndrome and Rothmund-Thomson Syndrome, exhibit ge

12 Bloom syndrome and Werner syndrome are genome instabilit

13 that failure to resolve these structures in Bloom syndrome and Werner syndrome cells may contribute

14 s, xeroderma pigmentosum, Cockayne syndrome, Bloom syndrome, and Rothmund-Thomson syndrome.

15 cancer or premature aging: Werner syndrome, Bloom syndrome, and Rothmund-Thomson syndrome.

16 he human BLM gene, whose mutation results in Bloom syndrome, and the human WRN gene, whose mutation l

17 n the Werner syndrome; BLM, deficient in the Bloom syndrome; and Drosophila melanogaster RecQ5b (dmRe

18 Fanconi anemia and Bloom syndrome are genomic instability syndromes caused

19 ersons with the autosomal recessive disorder Bloom syndrome are predisposed to cancers of many types

20 olytic hyperkeratosis, and a mouse model for Bloom syndrome are reviewed in this article.

21 e aging and cancer-prone diseases Werner and Bloom syndromes are caused by loss of function of WRN an

22 The Werner and Bloom syndromes are caused by loss-of-function mutations

23 Werner and Bloom syndromes are genetic RecQ helicase disorders char

24 Werner and Bloom syndromes are human diseases characterized by prem

25 syndromes such as xeroderma pigmentosum and Bloom syndrome as well as Werner's syndrome, in which pa

26 n Daxx and BML, the RecQ helicase missing in Bloom syndrome, as new ND10-associated proteins.

27 nding activity on G-quadruplex (G4) DNA, the Bloom syndrome-associated helicase BLM is proposed to pa

28 BLM, the helicase mutated in Bloom syndrome, associates with topoisomerase 3alpha, RM

29 The recent cloning of the genes involved in Bloom syndrome (BLM) and Werner syndrome (WRN) show that

30 The gene for Bloom syndrome (BLM) has been mapped to human chromosome

31 ng double-strand break repair, including the Bloom syndrome (BLM) helicase and exonuclease 1 (EXO1),

32 an important protein interaction of WRN and Bloom syndrome (BLM) helicases is with the structure-spe

33 vity but did not affect other DNA helicases [Bloom syndrome (BLM), Fanconi anemia group J (FANCJ), RE

34 ontaneous sister chromatid exchange (SCE) in Bloom syndrome (BS) cells, but not in their BLM-correcte

35 Bloom syndrome (BS) is a genetic disorder associated wit

36 Bloom syndrome (BS) is a genetic disorder that predispos

37 Bloom syndrome (BS) is a hereditary disorder characteriz

38 Bloom syndrome (BS) is a rare autosomal recessive disord

39 Bloom syndrome (BS) is a rare cancer-predisposing disord

40 Bloom syndrome (BS) is a rare genetic disorder character

41 Bloom syndrome (BS) is an autosomal recessive disorder c

42 Bloom syndrome (BS) is an autosomal recessive disorder c

43 Bloom syndrome (BS) is characterized by genomic instabil

44 Bloom syndrome (BS) is more frequent in the Ashkenazic J

45 The Bloom syndrome (BS) protein, BLM, is a member of the Rec

46 Bloom syndrome (BS), an autosomal recessive disorder, is

47 icated in the genetic instability disorders, Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), an

48 Mutations in Bloom helicase (BLM) lead to Bloom Syndrome (BS).

49 tributing to accelerated aging in Werner and Bloom syndromes, but not XFE progeroid syndrome.

50 trial, we genotyped 3,258 SNPs in 10 Jewish Bloom syndrome cases and 31 non-Bloom syndrome Jewish pe

51 d cancer predisposition syndromes, including Bloom syndrome, caused by mutations affecting the BLM pr

52 overs include the RecQ helicase deficient in Bloom syndrome cells (BLM), which is part of a complex t

53 mented the genomic instability phenotypes of Bloom syndrome cells as assessed by sister-chromatid exc

54 The attenuated apoptotic phenotype in Bloom syndrome cells was rescued not only by ectopic exp

55 atid exchange (SCE)--the hallmark feature of Bloom syndrome cells.

56 Bloom syndrome, characterized by a predisposition to can

57 d progeria syndrome (HGPS), Werner syndrome, Bloom syndrome, Cockayne syndrome, trichothiodystrophy,

58 1Y and K422R), observed earlier by us in the Bloom syndrome condition.

59 Bloom syndrome confers strong predisposition to malignan

60 ne products that are defective in Werner and Bloom syndromes, disorders which share many phenotypic a

61 eproductive system, and bone, and those with Bloom syndrome display more limited features of aging, i

62 sclerosis complex, neurofibromatosis type 1, Bloom syndrome, epidermolytic hyperkeratosis, X-linked i

63 own WRN or BLM (the RecQ helicase mutated in Bloom syndrome) expression in primary human fibroblasts.

64 The Bloom syndrome gene BLM encodes a RecQ DNA helicase, who

65 The Bloom syndrome gene, BLM, encodes a RecQ DNA helicase th

66 ophila Dmblm locus is a homolog of the human Bloom syndrome gene, which encodes a helicase of the REC

67 BLM, the gene mutated in Bloom syndrome, has been cloned previously, and the BLM

68 is, and reduced formation of foci containing Bloom syndrome helicase (BLM) after hydroxyurea-induced

69 Similarly, a Bloom syndrome helicase (BLM) domain fragment, BLM(642-1

70 and mei-218 mutants; however, removal of the Bloom syndrome helicase (BLM) ortholog restored crossove

71 Here, we show that whereas either WRN or the Bloom syndrome helicase (BLM) stimulates DNA polymerase

72 rt a specific interaction between TopBP1 and Bloom syndrome helicase (BLM) that is phosphorylation an

73 Like the human Bloom syndrome helicase (BLM), Sgs1 functions during bot

74 The Bloom syndrome helicase BLM and topoisomerase-IIbeta-bin

75 formation and chromatin loading of BLM (the Bloom syndrome helicase).

76 rosophila melanogaster mutants that lack the Bloom syndrome helicase.

77 in mus309, which encodes the ortholog of the Bloom Syndrome helicase.

78 nic stem (ES) cells, mutations in either the Bloom syndrome homologue (Blm) or the Recql5 genes resul

79 coated by BLM (the RecQ helicase mutated in Bloom syndrome) in early mitosis.

80 ormed two trials: one in autosomal recessive Bloom syndrome, in which a unique mutation of the BLM ge

81 Cellular phenotypes of Werner syndrome and Bloom syndrome, including genomic instability and premat

82 Bloom syndrome is a disorder associated with genomic ins

83 Bloom syndrome is a disorder of profound and early cance

84 Bloom syndrome is a familial genetic disorder associated

85 Bloom syndrome is a rare autosomal disorder characterize

86 Bloom syndrome is a rare disorder associated with cancer

87 Bloom syndrome is a rare, autosomal recessive inherited

88 Bloom Syndrome is an autosomal recessive cancer-prone di

89 Bloom syndrome is an autosomal recessive disorder associ

90 Bloom syndrome is an autosomal recessive disorder caused

91 BLM, the helicase defective in Bloom syndrome, is part of a multiprotein complex that p

92 e that BLM, the RecQ DNA helicase mutated in Bloom syndrome, is preferentially modified by SUMO-2/3 b

93 in 10 Jewish Bloom syndrome cases and 31 non-Bloom syndrome Jewish persons as a comparison group.

94 Two RecQ helicases, RECQL5 and Bloom syndrome mutated (BLM) suppress HR through nonredu

95 The product of the Bloom syndrome mutated gene, designated BLM, is a member

96 ster chromatid while the RecQ helicase, BLM (Bloom syndrome mutated) suppresses crossing over to prev

97 The Bloom syndrome patient (BLM) protein defective in the di

98 Bloom syndrome patients have a strong predisposition to

99 he first time the possible predisposition of Bloom syndrome patients with impaired PKM2 activity to c

100 ild-type cells but not in cells derived from Bloom syndrome patients with inactivating BLM mutations.

101 on is attenuated in primary fibroblasts from Bloom syndrome patients.

102 t component of p53 function and suggest that Bloom Syndrome phenotype may in part be the result of th

103 hich is needed for subsequent recruitment of Bloom syndrome protein (BLM) and exonuclease 1 (Exo1) to

104 Arabidopsis slow growth suppressor 1 (Sgs1)/Bloom syndrome protein (BLM) homologs--as major barriers

105 , including Escherichia coli RecQ, the human Bloom syndrome protein (BLM), and Saccharomyces cerevisi

106 WRN and for another RecQ family member, the Bloom syndrome protein (BLM).

107 t lack DmBlm, the Drosophila ortholog of the Bloom syndrome protein, increases the percentage and ove

108 cluding yeast Sgs1p and the human Werner and Bloom syndrome proteins, participate in telomere biology

109 human cells, when compared with the related Bloom syndrome RECQ helicase protein.

110 M helicases defective in Werner syndrome and Bloom syndrome, respectively, have been extensively inve

111 Werner syndrome and Bloom syndrome result from defects in the RecQ helicases

112 Fanconi Anemia (FA) and Bloom Syndrome share overlapping phenotypes including sp

113 ilar to that observed in Werner syndrome and Bloom syndrome, such as bone loss, was observed.

114 c in primary fibroblasts from a patient with Bloom syndrome than in normal human fibroblasts.

115 In cells from persons with Bloom syndrome the localization of PML is unperturbed, w

116 In the Bloom syndrome trial, by Fisher's exact test, statistica

117 In the Bloom syndrome trial, we genotyped 3,258 SNPs in 10 Jewi

118 autosomal recessive human genetic disorders (Bloom syndrome, Werner syndrome and Rothmund-Thomson syn

119 rotein (BLM) is a 3'-5' helicase, mutated in Bloom syndrome, which plays an important role in respons

120 The human Werner and Bloom syndromes (WS and BS) are caused by deficiencies i