ライフサイエンスコーパス: allelic imbalance

1 of 1,168 (55%) with KRAS mutations exhibited allelic imbalance.

2 o transcriptional bursting causing temporary allelic imbalance.

3 inciding to 2q11-2q16, nine markers revealed allelic imbalance.

4 performed in four tumours that demonstrated allelic imbalance.

5 firmed true loss of alleles rather than just allelic imbalance.

6 4 (42%) of 33 informative cases demonstrated allelic imbalance.

7 ignals spanning rs4846913 showed significant allelic imbalance.

8 xpression and the degree of parent-of-origin allelic imbalance.

9 ndent gene expression, splicing patterns and allelic imbalances.

10 PDYN, NOS3 and NPY did not have large allelic imbalances.

11 Focusing on Kras allelic imbalance, a feature shared by all three models,

12 scan of NB to identify regions with frequent allelic imbalance (AI) and correlate the allelotype with

13 thesized that APAF-1 gene dysfunction due to allelic imbalance (AI) contributes to the development an

14 port a region exhibiting a high frequency of allelic imbalance (AI) corresponding to this locus in tu

15 Allelic imbalance (AI) encompassing the apoptotic protea

16 57 (75%) HNSCC lines showed LOH or isolated allelic imbalance (AI) for at least one locus on 18q.

17 osome 1q and chromosome 3p were assessed for allelic imbalance (AI) in 47 phyllodes tumors; in all ca

18 We also investigated allelic imbalance (AI) in mammary carcinomas from (WKy x

19 itecture of chromosomal alterations inducing allelic imbalance (AI) in the airway field of the most c

20 otential mechanisms, we investigated whether allelic imbalance (AI) of BRCA1 or BRCA2 expression was

21 s study, we investigated gene expression and allelic imbalance (AI) of NOD2 and ATG16L1 using common

22 for MET mutations, TFE3 rearrangements, and allelic imbalance (AI) on 3p, 6, 7q, 9p, 11, 13q, 14q, 1

23 Allelic imbalance (AI) studies on chromosome 17 (C17) in

24 , single nucleotide polymorphisms (SNPs) and allelic imbalance (AI), including loss of heterozygosity

25 chromosomal instability is characterized by allelic imbalance (AI), representing losses or gains of

26 eny of inbred mice, we can directly test for allelic imbalance (AI), which must be due to cis-acting

27 icrosatellite repeats to examine patterns of allelic imbalance along the length of chromosome 17.

28 MCP extends tumor LOH analysis to allelic imbalance analysis and supplies complementary in

29 Allelic imbalance analysis ruled out allele-specific DDX

30 DNA from these samples was subjected to allelic imbalance analysis using HuSNP chips and was val

31 Using allelic imbalance analysis, the minor alleles of these 3

32 comas, which were associated with Hras(G12V) allelic imbalance and augmented Hras signaling.

33 microarray containing 11 560 SNPs to detect allelic imbalance and chromosomal copy number abnormalit

34 mas and to reveal novel correlations between allelic imbalance and disease progression in colorectal

35 netic composition in 27 of 28 NB analyzed by allelic imbalance and gene copy number.

36 Deregulation of KLF6 by a combination of allelic imbalance and mutation may play a role in the de

37 of heterozygosity (LOH) is a common form of allelic imbalance and the detection of LOH has been used

38 cific TP53 status, loss of heterozygosity or allelic imbalance, and clinical and pathological charact

39 of microsatellite instability, KLF6 and TP53 allelic imbalance, and KLF6, K-RAS, TP53, and APC mutati

40 uding the analysis of transcriptional noise, allelic imbalance, and RNA processing.

41 of heterozygosity (LOH) is a common form of allelic imbalance, and the detection of LOH has been use

42 Recent evidence suggests that genome-wide allelic imbalances are inducible by carcinogens and may

43 ted them to identify microRNAs positioned in allelic imbalance area.

44 26, miR-150, and miR-205) were positioned in allelic imbalance areas.

45 d DNA from 25 microdissected AAH lesions for allelic imbalance as compared to matched normal DNA, usi

46 propose an algorithm that uses the degree of allelic imbalance as well as probe intensity, with a cor

47 Using allelic-imbalance assays, we show that this QTL is a glu

48 Here, we describe a method to measure mRNA allelic imbalances associated with a regulatory site fou

49 However, most methods of detecting an allelic imbalance assume diploid genomes.

50 etics in the routine clinic, we investigated allelic imbalance at 1p36, 19q13, 17p13, 10p12-15, and 1

51 the prostate, we examined the prevalence of allelic imbalance at 5 microsatellite polymorphic marker

52 eover, of 17 patients whose tumors displayed allelic imbalance at CDKN2A, 14 preferentially retained

53 Allelic imbalance at DCC was observed in 61% of CRCs.

54 We also found convincing evidence for allelic imbalance at multiple reporter exonic SNPs in CD

55 ut reveal some other interesting patterns of allelic imbalance at other loci on chromosome 17.

56 issue pre- and post-LPS was used to test for allelic imbalance at rs315952.

57 We show that allelic imbalance at the TPL2 locus, up-regulation of mi

58 The loss of heterozygosity/allelic imbalance at various markers in the stroma was s

59 SNP assay discovered previously undiscovered allelic imbalances at chromosomal arms 12q, 16p, 1p, and

60 Allelic imbalances at DCC were determined in CRCs.

61 Taken together, our results suggest allelic imbalance between mutated and wild-type RET as a

62 ds to a personal genome, and then measuring 'allelic imbalances' between the numbers of reads mapped

63 Demonstration of 11q13 allelic imbalance by microdissection/genotyping may be a

64 eterogeneous cell populations and found that allelic imbalance can be detected in the presence of a s

65 genomic instability, such as aneuploidy and allelic imbalance, can accurately measure the cancer ris

66 ethylation regulates GDF5 expression and the allelic imbalance caused by rs143383.

67 at MCP performs better than LOH analysis for allelic-imbalanced chromosome regions and normal contami

68 Furthermore, allelic imbalance, consistent with LOH, was detected in

69 The smallest region of allelic imbalance contains the podocalyxin-like (PODXL)

70 Our allelic imbalance data demonstrate that genetic variants

71 ulted from a hypomorphic p.Y91H mutation and allelic imbalance established in this population through

72 all 23 cases studied and a high frequency of allelic imbalance even in small (early) primary tumors s

73 eloped hapLOHseq for the detection of subtle allelic imbalance events from next-generation sequencing

74 The detection of subtle genomic allelic imbalance events has many potential applications

75 Adipose tissue displayed significant allelic imbalance favoring the rs315952C allele in subje

76 We demonstrate allelic imbalance favouring the G-containing strand in t

77 ly of chromosome 7 revealed a submicroscopic allelic imbalance for a third distal locus, D7S677.

78 tumor formation by virtue of the absence of allelic imbalance for other common cancer-related gene d

79 The range of allelic imbalance for several missense sarcomere mutatio

80 also found SNVs for which we can anticipate allelic imbalance from the disruption of a binding motif

81 The frequency of allelic imbalance has been calculated based on the LOH e

82 In addition, allelic imbalance has been described for at least five r

83 al-specific loss of heterozygosity (LOH) and allelic imbalances [i.e., partial LOH (pLOH)] observed i

84 ay technique for "fingerprinting" genomewide allelic imbalance in 14 basal cell carcinoma-blood pair

85 situ hybridization analysis revealed an APC2 allelic imbalance in 19 of 20 ovarian cancers screened a

86 m microarray analysis to examine genome-wide allelic imbalance in 60 cSCCs using paired non-tumor sam

87 We found allelic imbalance in 7 of 15 (47%) cases of AAH.

88 with an increased loss of heterozygosity and allelic imbalance in both hereditary and sporadic breast

89 Allelic imbalance in chromatin accessibility and diverge

90 Allelic imbalance in chromosomes 1p36 and 19q13 was dete

91 These include transcriptome-wide analyses of allelic imbalance in clonal cell populations based on se

92 Analysis of allelic imbalance in complementary DNA (cDNA) samples fr

93 pe impairs binding of HIF-2, resulting in an allelic imbalance in cyclin D1 expression, thus affectin

94 ciated with lower CD36 expression and strong allelic imbalance in ex vivo differentiated human erythr

95 luding classical imprinting and a new global allelic imbalance in expression favoring the paternal al

96 We examined the pattern of allelic imbalance in human transitional cell carcinomas

97 ide arrays for genome-wide scans for LOH and allelic imbalance in human tumors.

98 et samples heterozygous for rs7903146 showed allelic imbalance in islet FAIRE signals and that the va

99 s is a powerful new tool for the analysis of allelic imbalance in leukemic blasts.

100 Chromosomal arms showing allelic imbalance in lung tumors from nonsmokers were ra

101 verall, 5% of human TF binding sites have an allelic imbalance in occupancy.

102 Notably, allelic imbalance in paternally expressed gene 3 (PEG3)

103 ion also associated with a high frequency of allelic imbalance in prostate tumors.

104 efficient and valid genome-wide analysis of allelic imbalance in routinely processed and whole genom

105 ethods have been used to measure the rate of allelic imbalance in small adenocarcinomas and to reveal

106 ot visible in sperm competition assays or as allelic imbalance in sperm.

107 Methods for profiling tumor-associated allelic imbalance in such scenarios break down at aberra

108 In summary, the study demonstrates that allelic imbalance in the 12q22-23 region is a genomic su

109 e microdissection, we evaluated 11q13 region allelic imbalance in the pathogenesis of pulmonary tumor

110 d to an increased loss of heterozygosity and allelic imbalance in the stroma of sporadic tumors was a

111 ical features and the loss of heterozygosity/allelic imbalance in the stroma than in the epithelium,

112 odifier genes might be located in regions of allelic imbalance in the tumors of BRCA1 mutation carrie

113 s shown to be informative were evaluated for allelic imbalance in tumorlet/carcinoid tissue.

114 Chromosomal regions of allelic imbalance in tumors are predicted to define the

115 The arrays were used to detect allelic imbalance in two types of human tumors, and a su

116 ), as a key alternative genetic mechanism to allelic imbalances in basal cell carcinomas.

117 uent loss of heterozygosity (LOH) as well as allelic imbalances in chromosomes in esophageal adenocar

118 chromosome 3p21.3 region that shows frequent allelic imbalances in lung, breast, and other cancers.

119 lution genotypic analysis (n = 3) identified allelic imbalances in the CRA.

120 Association of the loss of heterozygosity/allelic imbalance, in both the stroma and epithelium, wi

121 In patients without metastasis, allelic imbalance is a better predictor of prognosis tha

122 ults indicate that loss of TbetaRIII through allelic imbalance is a frequent genetic event during hum

123 Stroma-specific loss of heterozygosity or allelic imbalance is associated with somatic TP53 mutati

124 mas have been analysed for the occurrence of allelic imbalance (LOH) on chromosome 17 using 41 micros

125 t-specific loci of loss of heterozygosity or allelic imbalance (LOH/AI) and to identify which genomic

126 l tumors (HNSCCs) for loss of heterozygosity/allelic imbalance (LOH/AI) at the MPP11 genomic locus.

127 d that hotspots of loss of heterozygosity or allelic imbalance (LOH/AI) within the tumor stroma of BR

128 In addition, it has advantages over standard allelic imbalance/loss of heterozygosity assays in that

129 sought evidence of genetic instability or of allelic imbalance (most likely representing loss of hete

130 ygous at these loci, high frequencies of LOH/allelic imbalance occurred at these loci in the correspo

131 te markers, we have previously reported that allelic imbalance of 7q31 is common in prostate cancer a

132 d AI of at least one chromosome, and 67% had allelic imbalance of a chromosome other than 5q.

133 sis of blood and saliva from carriers showed allelic imbalance of APC, suggesting that these mutation

134 eover, progressive increase in the degree of allelic imbalance of chromosomes 1p, 5q, 8p, 18q, 22q, a

135 We then investigated the allelic imbalance of EGFR transcription in fibroblast ce

136 We used pyrosequencing to investigate allelic imbalance of Oxtr mRNA, a molecular signature of

137 tumor DNA samples may have failed to display allelic imbalance of RET, because of contamination of tu

138 four microdissected tumor DNA samples showed allelic imbalance of RET, whereas only four of the 15 no

139 Allelic imbalance of the EGFR -216G/T polymorphism was a

140 Genotyping was designed to detect allelic imbalance of the int-2 gene and involved DNA seq

141 hosphorimage densitometry analyses, we found allelic imbalance of the mutated and wild-type RET allel

142 ed into three groups: "L" tumours (n=93) had allelic imbalances of chromosomes 8p and 18q, "L/R" tumo

143 mosomes 8p and 18q, "L/R" tumours (n=60) had allelic imbalances of either chromosome 8p or 18q but no

144 associations between loss of heterozygosity/allelic imbalance on chromosome 11 in the stroma and tum

145 s contributing to the loss of heterozygosity/allelic imbalance on chromosome 11 in the stroma associa

146 ewide analysis of loss of heterozygosity and allelic imbalance on DNA from isolated neoplastic epithe

147 ance, respectively, whereas no tumor without allelic imbalance on these chromosomal arms demonstrated

148 Lack of allelic imbalance or allelic splicing of the ABCG5 and A

149 s a vast improvement for detection of subtle allelic imbalance, or low proportions of cells harboring

150 enable rapid and accurate identification of allelic imbalance patterns that will facilitate the mapp

151 ntion clinical trials, including chromosomal allelic imbalances, polysomy, p53, overexpression of pod

152 samples from four tumors harboring divergent allelic-imbalance profiles and with ploidy heterogeneity

153 For example, identifying cancer-associated allelic imbalanced regions in low tumor-cellularity samp

154 minor copy alleles can also be inferred from allelic-imbalanced regions by MCP analysis.

155 found in all primary tumors with 3p and 22q allelic imbalance, respectively, whereas no tumor withou

156 NA, we identified 793 and 1070 SNP loci with allelic imbalance, respectively.

157 Applying this method, called allelic imbalance sequencing, to sites for three miRNAs

158 entiated cSCCs; yet, despite a lower rate of allelic imbalance, some specific aberrations were observ

159 es confirmed this and identified tumors with allelic imbalance, some with clear breakpoints in 8p12.

160 Allelic imbalance, specifically microsatellite instabili

161 ted the expression, promoter methylation and allelic imbalance status of this gene in 52 paired (norm

162 ere previously reported using chromosomal or allelic imbalance studies.

163 ene previously implicated in this disease by allelic imbalance studies.

164 sm (SNP) and loss of heterozygosity (LOH) or allelic imbalance studies.

165 y adding an adjustment for sequence-specific allelic imbalances such as cross-hybridization between a

166 s coinciding with the Mcs1 gene locus showed allelic imbalance, suggesting that alterations at this l

167 taneously scores peak height correlation and allelic imbalance: the genotype-independent signal corre

168 ulation of multiple genetic alterations, and allelic imbalance throughout the genome.

169 mulation of multiple genetic alterations and allelic imbalance throughout the genome.

170 We first analyzed 124 NSCLC cases for allelic imbalance using eight microsatellite markers on

171 Overall, the median number of allelic imbalance was 47.5, ranging from 20 to 118.

172 Allelic imbalance was also analyzed at the Smad4 locus u

173 HRAS-mutant allelic imbalance was also observed in human cancer cell

174 Allelic imbalance was assessed using three markers previ

175 Frequent allelic imbalance was detected at five additional tumor-

176 fied DNA, 78% and 83% of these SNP loci with allelic imbalance was detected.

177 h non-MSI-high colorectal cancer, 18q LOH or allelic imbalance was not associated with patient surviv

178 Int-2 allelic imbalance was shown to be an early event in carc

179 Int-2 allelic imbalance was significantly associated with carc

180 We discovered that frequency of allelic imbalance was significantly higher in metastatic

181 The mean number of allelic imbalances was 36.58, 51.30, and 67.78 for pT(a)

182 In our study, MAOA was found to have large allelic imbalances, which indicates that there is in viv

183 rations manifested by loss of heterozygosity/allelic imbalance with 386 microsatellite markers.

184 t 23 (47%) of 49 informative cases exhibited allelic imbalance with at least one chromosome 6p marker

185 should enable identification of patterns of allelic imbalance with potential prognostic and diagnost

186 We observed 12% allelic imbalance, with loss only within chromosome 8p11

187 e majority of tumors had complex patterns of allelic imbalance, with regions of subclonal and clonal

188 , determined either by gene amplification or allelic imbalance, with the highest incidence observed a