ライフサイエンスコーパス: Bloom syndrome

1 c instability/cancer predisposition syndrome Bloom syndrome.

2 ssible druggable target for the treatment of Bloom syndrome.

3 ss how these abnormalities may contribute to Bloom syndrome.

4 predisposition syndromes Werner syndrome and Bloom syndrome.

5 using Drosophila as a model system to study Bloom Syndrome.

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

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

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

9 ted to mitigate this component of Werner and Bloom syndromes.

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

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

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

13 LM defects represent the underlying cause of Bloom Syndrome, a rare genetic disorder that is marked b

14 Bloom Syndrome, a rare human disorder characterized by g

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

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

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

18 Bloom syndrome and Werner syndrome are genome instabilit

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

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

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

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

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

24 Fanconi anemia and Bloom syndrome are genomic instability syndromes caused

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

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

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

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

29 Werner and Bloom syndromes are genetic RecQ helicase disorders char

30 Werner and Bloom syndromes are human diseases characterized by prem

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

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

33 ispositions, such as DICER1, Li-Fraumeni and Bloom syndrome, as well as Fanconi anemia.

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

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

36 erited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN muta

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

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

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

40 The Bloom syndrome (BLM) helicase is critical for alternativ

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

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

43 anism and was reported to be associated with Bloom syndrome (BS) and cancer.

44 (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome

45 Werner Syndrome (WS) and Bloom Syndrome (BS) are disorders of DNA damage repair c

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

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

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

49 Bloom syndrome (BS) is a hereditary disorder characteriz

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

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

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

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

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

55 Bloom syndrome (BS) is associated with a profoundly incr

56 Bloom syndrome (BS) is characterized by genomic instabil

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

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

59 ial for genome integrity and is deficient in Bloom syndrome (BS), a rare genetic disease characterize

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

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

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

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

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

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

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

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

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

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

70 Bloom syndrome, characterized by a predisposition to can

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

72 1Y and K422R), observed earlier by us in the Bloom syndrome condition.

73 Bloom syndrome confers strong predisposition to malignan

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

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

76 ave focused on understanding the role of the Bloom syndrome DNA helicase BLM as a recombination facto

77 The Bloom syndrome DNA helicase BLM contributes to chromosom

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

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

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

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

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

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

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

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

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

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

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

89 ctosome, a multienzyme complex that includes bloom syndrome helicase (BLM), DNA2 or exonuclease 1 nuc

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

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

92 The Bloom syndrome helicase BLM interacts with topoisomerase

93 The Bloom syndrome helicase BLM interacts with topoisomerase

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

95 rosophila melanogaster mutants that lack the Bloom syndrome helicase.

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

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

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

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

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

101 Bloom syndrome is a disorder associated with genomic ins

102 Bloom syndrome is a disorder of profound and early cance

103 Bloom syndrome is a familial genetic disorder associated

104 Bloom syndrome is a rare autosomal disorder characterize

105 Bloom syndrome is a rare disorder associated with cancer

106 Bloom Syndrome is a rare genetic disorder that is associ

107 Bloom syndrome is a rare, autosomal recessive inherited

108 Bloom Syndrome is an autosomal recessive cancer-prone di

109 Bloom syndrome is an autosomal recessive disorder associ

110 Bloom syndrome is an autosomal recessive disorder caused

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

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

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

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

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

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

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

118 ies mitochondria-associated abnormalities in Bloom syndrome patient-derived and BLM-knockout cells an

119 Bloom syndrome patients have a strong predisposition to

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

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

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

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

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

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

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

127 with each other and with the repair helicase Bloom syndrome protein (BLM), demonstrating multiple sim

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

129 dance of anaphase bridge resolving helicase, Bloom syndrome protein (BLM).

130 BLM (Bloom syndrome protein) is a RECQ-family helicase involv

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

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

133 In particular, overexpression of Bloom syndrome RecQ helicase (BLM) and cyclin E1 (CCNE1)

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

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

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

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

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

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

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

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

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

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

144 Loss of BLM activity leads to Bloom syndrome, which is characterized by extraordinary

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

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