ライフサイエンスコーパス: genetic abnormality

1 t disease to be linked to a single, acquired genetic abnormality.

2 o bypass the biochemical block caused by the genetic abnormality.

3 ion in the BRI gene has been shown to be the genetic abnormality.

4 a small subset of patients with one defined genetic abnormality.

5 re limited by low efficiency and the risk of genetic abnormality.

6 22q11 deletion syndrome is the most common genetic abnormality.

7 defects that are specific to the underlying genetic abnormality.

8 ses without directly targeting the causative genetic abnormalities.

9 ntegrity and preventing illnesses induced by genetic abnormalities.

10 high molecular complexity without targetable genetic abnormalities.

11 ases can be classified according to specific genetic abnormalities.

12 hway TORC1/2 in MM cell lines with different genetic abnormalities.

13 o stratify DLBCL patients according to their genetic abnormalities.

14 markers was associated with the presence of genetic abnormalities.

15 r risk for HBOC families without other known genetic abnormalities.

16 therapy and stem cell biology to address the genetic abnormalities.

17 ariants can be generated from a fixed set of genetic abnormalities.

18 ssion profiling has elucidated the impact of genetic abnormalities.

19 of identifying tumors that contain specific genetic abnormalities.

20 ptive phenotypes, epigenetic aberrations and genetic abnormalities.

21 to assess the molecular mechanisms for these genetic abnormalities.

22 ed cells within the cyst can be analysed for genetic abnormalities.

23 niques have been developed to identify these genetic abnormalities.

24 quencing (NGS) analysis did not detect these genetic abnormalities.

25 ggest a progressive accumulation of multiple genetic abnormalities.

26 elative to those with ASD with no identified genetic abnormalities.

27 enign, recently were shown to contain clonal genetic abnormalities.

28 e targeted therapies based on their specific genetic abnormalities.

29 malignant potential and underlying possible genetic abnormalities.

30 geneous malignancy characterized by distinct genetic abnormalities.

31 l heart disease (CHD) that can be induced by genetic abnormalities.

32 geneous disease encompassing a wide array of genetic abnormalities.

33 s and is typically associated with recurrent genetic abnormalities.

34 and macroscopic precursors due to cumulative genetic abnormalities.

35 aspase-10 for survival irrespective of their genetic abnormalities.

36 ) is driven by diverse, somatically acquired genetic abnormalities.

37 obiome, rather than Mendelian inheritance of genetic abnormalities.

38 mong 25 patients comprehensively studied for genetic abnormalities, 11 harbored a genomic rearrangeme

39 95% CI, 2.3 to 2.17 years), those with other genetic abnormalities (2.17 years; 95% CI, 1.3 to 2.74 y

40 nition (MK-R) excluding cases with recurrent genetic abnormalities according to WHO classification an

41 ential peripheral myelin protein because its genetic abnormalities account for ~80% of hereditary neu

42 st cancer is believed to develop as multiple genetic abnormalities accumulate, each conferring some g

43 of new insights into the pathophysiology of genetic abnormalities affecting iron metabolism.

44 dividuals varies as a function of underlying genetic abnormality, age, myocardial pathology, and othe

45 However, whether this genetic abnormality alone is sufficient for lesion forma

46 Microarray analysis also identified more genetic abnormalities among 443 antepartum stillbirths (

47 Identifying the genetic abnormalities and biological drivers prior to AM

48 Correlations between genetic abnormalities and clinical features were examine

49 hat the behavior of the model in response to genetic abnormalities and dietary deficiencies is simila

50 logenous leukemia (CML) caused by additional genetic abnormalities and differences in the biology of

51 Genetic abnormalities and early treatment response are t

52 gm in cancer, in which a tumor is defined by genetic abnormalities and effective therapies are develo

53 Characterization of genetic abnormalities and genotype-phenotype correlation

54 correlation between cytogenetic or molecular genetic abnormalities and histomorphology is most consis

55 dies have also defined relationships between genetic abnormalities and leukemia cell phenotype and dr

56 ctive species may promote the acquisition of genetic abnormalities and malignant transformation of re

57 causal relation between the accumulation of genetic abnormalities and more aggressive clinical behav

58 newly diagnosed patients, risk-stratified by genetic abnormalities and plasma cell labeling index.

59 eterogeneous group of tumors, with different genetic abnormalities and response to therapy.

60 y, and finally, in the identification of the genetic abnormalities and the antigens driving the infla

61 Genetic abnormalities and the level of minimal residual

62 cleotide components, as a platform to detect genetic abnormalities and to screen for pathogenic condi

63 The relationship between this genetic abnormality and arterial disease is still unreso

64 ic MVGs appear to relate most closely to the genetic abnormality and the consequential reduction in f

65 rangement of MYC is rarely found as the sole genetic abnormality and the poor prognosis of these pati

66 ns, histologic features, biomarker profiles, genetic abnormalities, and potential for progression.

67 risk for developmental delay, without known genetic abnormality, and with >/=3 assessments by the us

68 %, P<0.001) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-num

69 These results indicate that genetic abnormalities are important predictors of outcom

70 Purpose Minimal residual disease (MRD) and genetic abnormalities are important risk factors for out

71 Somatic genetic abnormalities are initiators and drivers of dise

72 Genetic abnormalities are not only key events in the ori

73 t for preoperative genetic testing even when genetic abnormalities are not suspected during routine c

74 Genetic abnormalities are present in all tumor types, al

75 are becoming increasingly aware of inherited genetic abnormalities as causes of disease.

76 t the earliest stage, progressing to extreme genetic abnormalities as the disease progresses.

77 This was exacerbated in aHUS by genetic abnormalities associated with AP overactivation.

78 luable tool for the future identification of genetic abnormalities associated with B cell transformat

79 so been recent advances in understanding the genetic abnormalities associated with pediatric thyroid

80 better appreciation of the heterogeneity of genetic abnormalities associated with this disease.

81 This regulatory mutation is the first genetic abnormality associated with congenital amyelinat

82 ly history of macular retinoschisis, a known genetic abnormality associated with retinoschisis, myopi

83 istinct imprinted disorders characterized by genetic abnormalities at 15q11-q13.

84 Both MRD and genetic abnormalities at diagnosis were used to determin

85 first cancer to be associated with a defined genetic abnormality, BCR-ABL, that is necessary and suff

86 To test the effects of BCR/ABL as the sole genetic abnormality, BCR/ABL was transduced into umbilic

87 s a multi-step process that involves several genetic abnormalities, but the molecular mechanisms by w

88 Initial studies of the mother detected no genetic abnormality, but a sensitive restriction enzyme-

89 tion probes for these mutations, up to eight genetic abnormalities can be detected in single cells, a

90 ot contain the t(2;5), suggesting that other genetic abnormalities can result in aberrant ALK express

91 inically heterogeneous diseases in which the genetic abnormality can involve either a mitochondrial o

92 mosomal translocations are a major source of genetic abnormalities causally linked to certain maligna

93 s compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis

94 genes and phenocopies with other underlying genetic abnormalities cause podocytopathies associated w

95 brain and eye or face has uncovered further genetic abnormalities causing facial or eye anomalies, w

96 PLP have been recognized recently as a major genetic abnormality causing PMD.

97 e to newly diagnosed patients; however, some genetic abnormalities characteristic of poor outcome at

98 rehensive analysis for all main varieties of genetic abnormalities: chimeric gene fusions, copy numbe

99 During the chronic phase, this sole genetic abnormality (chromosomal translocation Ph(+): t(

100 Because there is no known genetic abnormality common to all patients with myeloma,

101 Aneuploidy is the leading genetic abnormality contributing to infertility, and chr

102 studies indicate that symptoms related to HD genetic abnormalities decrease with SPB therapy.

103 boptimal PUFA intake, but also metabolic and genetic abnormalities, defective hepatic metabolism, and

104 phagus provide a framework to categorise the genetic abnormalities described and to further understan

105 Molecular genetic abnormalities detected include the following: 9p

106 iable region gene (IGHV) mutation status and genetic abnormalities determined by interphase fluoresce

107 ntiated cells, but that with the appropriate genetic abnormalities differentiated astrocytes can act

108 e sequencing and animal models indicate that genetic abnormalities disrupting the control of cell gro

109 GF receptor (EGFR) and mutant p53 are common genetic abnormalities driving the progression of non-sma

110 s may synergistically interact with specific genetic abnormalities (e.g. p53 deficiency) to produce g

111 ys may later become subsidized by autonomous genetic abnormalities (eg, a single mutation) affecting

112 esearch has focused on the identification of genetic abnormalities, emerging studies increasingly sug

113 Recently, in an attempt to model a genetic abnormality encountered in schizophrenia, mice w

114 In a cohort of HLH patients with genetic abnormalities expected to result in the complete

115 The genetic abnormalities first identified in association wi

116 se, including the identification of specific genetic abnormalities for some types of malformations.

117 ions in DNMT3A are one of the most prevalent genetic abnormalities found in acute myeloid leukemia (A

118 Chromosomal translocations are common genetic abnormalities found in both leukemias and solid

119 Recent experiments indicate that some of the genetic abnormalities found in human brain tumors can in

120 lysis of protein-coding genes; however, most genetic abnormalities found in human cancer are located

121 The spectrum of genetic abnormalities found in the classic MPNs has incr

122 Genetic abnormalities frequently give rise to a mental r

123 osed of distinct subtypes that vary in their genetic abnormalities, gene expression signatures, and p

124 The expanding lexicon of genetic abnormalities has revealed a surprising degree o

125 y, which leads to an accumulation of various genetic abnormalities, has been considered an essential

126 surprising that correlations with individual genetic abnormalities have also been disappointing.

127 Genetic abnormalities have been associated with 6 to 13%

128 Several genetic abnormalities have been described, and current r

129 Various genetic abnormalities have been described, but most spor

130 netic causes of CKD; however, the underlying genetic abnormalities have been established in <50% of p

131 Diverse genetic abnormalities have been identified in these hema

132 is of cellular injury, defining predisposing genetic abnormalities, identifying better noninvasive pr

133 this study was to investigate the underlying genetic abnormalities in a 25-year-old woman affected wi

134 roteins AML1 and CBFbeta are the most common genetic abnormalities in acute leukaemia, and congenital

135 q22) translocation is one of the most common genetic abnormalities in acute myeloid leukemia (AML), i

136 gh CEBPA mutations are among the most common genetic abnormalities in acute myeloid leukemia (AML), t

137 ive genomic hybridization to the analysis of genetic abnormalities in breast carcinoma has consistent

138 t(12;21)(p13;q22) is one of the most common genetic abnormalities in childhood acute lymphoblastic l

139 Tumors were also analyzed for known common genetic abnormalities in DLBCL.

140 Our understanding of the causative genetic abnormalities in eosinophilic leukemia is increa

141 The acquisition of genetic abnormalities in human B-lineage acute lymphobla

142 demonstrated to be one of the most frequent genetic abnormalities in human cancers.

143 factors and are also targets of a variety of genetic abnormalities in human hematologic malignancies.

144 ssor gene locus, is one of the most frequent genetic abnormalities in human neoplasia, including esop

145 Our results demonstrate that early genetic abnormalities in interneurons can interact with

146 Because genetic abnormalities in key granule components (e.g., p

147 previous reports of cytogenetic or molecular genetic abnormalities in leiomyosarcomas or leiomyomas a

148 Studies of rodents with genetic abnormalities in leptin or leptin receptors reve

149 increasingly sophisticated understanding of genetic abnormalities in leukemia cells (including chrom

150 e dehydrogenase (IDH) are the most prevalent genetic abnormalities in lower grade gliomas.

151 hrough whole-exome sequencing, we discovered genetic abnormalities in lysyl-tRNA synthetase (KARS).

152 The spectrum of genetic abnormalities in MDS implicates a wide range of

153 concept of distinct groups of molecular and genetic abnormalities in melanomas, related to type of s

154 ho develop acute leukemia, the complement of genetic abnormalities in MPN patients who undergo LT is

155 The genetic abnormalities in multiple myeloma and Waldenstro

156 ing the biology and clinical implications of genetic abnormalities in multiple myeloma.

157 toma and suggest that further delineation of genetic abnormalities in murine tumors may identify gene

158 The prevalence and significance of genetic abnormalities in older patients with acute myelo

159 ll provide ample opportunity to identify the genetic abnormalities in other cardiovascular disorders.

160 We sought to identify the genetic abnormalities in patients with idiopathic IPEX-l

161 o improve our ability to accurately identify genetic abnormalities in primary tumor samples and to in

162 Myc overexpression and Pten loss are common genetic abnormalities in prostate cancer, whereas loss o

163 for inclusion of mutational testing of these genetic abnormalities in routine clinical practice.

164 we will review the important new findings on genetic abnormalities in sarcomas, clinical applications

165 Genetic abnormalities in skin barrier function are assoc

166 li and is commonly the result of acquired or genetic abnormalities in the alternative pathway (AP) of

167 reneoplastic bronchial lesions for molecular genetic abnormalities in the candidate tumor suppressor

168 IDC is a well known phenomenon, whereas the genetic abnormalities in the mammary stroma and its infl

169 Genetic abnormalities in the regulation of self-reactive

170 A review of the literature suggests that genetic abnormalities in this group may herald a worse p

171 of the embryo, whereby the risk conferred by genetic abnormality in any one lineage is modified, in a

172 ORF72 repeat expansion to be the most common genetic abnormality in both familial FTD (11.7%) and fam

173 Tumors were categorized according to the genetic abnormality in CD274 and PDCD1LG2 (coamplificati

174 e 13q14 deletions constitute the most common genetic abnormality in chronic lymphocytic leukemia (CLL

175 me 13 at cytoband 13q14 is the most frequent genetic abnormality in CLL, but the molecular aberration

176 egion of the C9ORF72 gene is the most common genetic abnormality in familial and sporadic amyotrophic

177 ere has been much progress in clarifying the genetic abnormality in families with inherited adult-ons

178 result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed.

179 Trisomy is the most common genetic abnormality in humans and is the leading cause o

180 g mutation in the BRAF gene, the most common genetic abnormality in melanoma, has shown clinical effi

181 The genetic abnormality in myotonic muscular dystrophy, mult

182 genetic testing but only if there is a known genetic abnormality in the affected person.

183 uncovered nine unrelated patients carrying a genetic abnormality in the complement factor H related 1

184 To identify the causative genetic abnormality in this family, we performed linkage

185 karyotyping is a robust tool to define small genetic abnormalities including UPD, which is usually ov

186 rmal-appearing breast epithelium can contain genetic abnormalities, including allele imbalance (AI),

187 by a premalignant tumor with which it shares genetic abnormalities, including universal dysregulation

188 onic stresses resulting from factors such as genetic abnormalities, infection, or chronic ischemia.

189 Complex patterns of genetic abnormalities interact to determine the clinical

190 d by the Philadelphia chromosome as the sole genetic abnormality into blast crisis, which is often as

191 Genetic abnormalities involved in the pathogenesis of lu

192 The most prominent genetic abnormality involving motile cilia (and the resp

193 y on the prognostic significance of specific genetic abnormalities is also important.

194 at a risk assignment system based on primary genetic abnormalities is inadequate by itself.

195 Moreover, detailed study of these genetic abnormalities is leading to a better understandi

196 new approach to determine if ablation of the genetic abnormality is sufficient for reversion by gener

197 that TS is an inherited disorder, the exact genetic abnormality is unknown.

198 rm function, particularly those arising from genetic abnormalities, is of the utmost importance not o

199 shows significant associations with specific genetic abnormalities, it lacks prognostic value in chil

200 There are no well defined genetic abnormalities known to occur in these tumors.

201 Somatically acquired genetic abnormalities lead to the salient features that

202 contribute to the accumulation of additional genetic abnormalities leading to the resistance to inhib

203 ow misregulation of their activities through genetic abnormalities leads to pathologies such as devel

204 ith an unknown environmental component and a genetic abnormality likely centered on the filaggrin gen

205 Distinct genetic abnormalities (loss-of-function mutations of APC

206 iveness to antiestrogens as a consequence of genetic abnormalities many population doublings ago, not

207 s through the accumulation of key additional genetic abnormalities, many of which have prognostic and

208 gs suggest that a constellation of alternate genetic abnormalities may contribute to disruption of p5

209 Further analyses of these genetic abnormalities may lead to the identification of

210 Genetic abnormalities may persist after PDT despite phen

211 Therefore, we hypothesized that clonal genetic abnormalities might be detectable before any phe

212 rmore, we discovered that different types of genetic abnormalities (mutation versus amplification) wi

213 Most diseases arise not purely through genetic abnormalities nor purely through environmental c

214 presenting features, including leukemic-cell genetic abnormalities, nor were there significant sex di

215 total, the SNP array analysis identified 367 genetic abnormalities not corresponding to known copy nu

216 d some premalignant lesions contain multiple genetic abnormalities not present in the normal tissues

217 the use of complementary assays to disclose genetic abnormalities not revealed by current NGS analys

218 Numerous structural genetic abnormalities observed in acute myeloid leukemia

219 ns or second cancers develop once additional genetic abnormalities occur, they could contribute to in

220 ne the nature and implications of additional genetic abnormalities occurring in these tumors.

221 flect the presence of an as yet unrecognized genetic abnormality occurring in one or both parents of

222 ided a relative increase in the diagnosis of genetic abnormalities of 41.9% in all stillbirths, 34.5%

223 Most genetic abnormalities of CML blast crisis have a direct

224 This is the first study to show genetic abnormalities of lung-specific differentiation p

225 Genetic abnormalities of lymphocyte cell death programs

226 cular biologic tools, new information on the genetic abnormalities of sarcomas is rapidly emerging.

227 perspectives on skull evolution and on human genetic abnormalities of skull growth and ossification.

228 suggest that elevated O(2)(-) levels due to genetic abnormalities of SOD2 or immunologic activation

229 ying risk-directed therapy that was based on genetic abnormalities of the leukaemic cells and measure

230 Our findings suggest that genetic abnormalities of the PTEN/MMAC1 gene are only in

231 al number of chromosomes, is the most common genetic abnormality of cancer cells and is known to chan

232 or chromosome imbalance is the most massive genetic abnormality of cancer cells.

233 essing the bcr-abl fusion cDNA, the defining genetic abnormality of chronic-phase CML (CP-CML).

234 PG compared with B-lineage ALL without these genetic abnormalities or compared with hyperdiploid (few

235 nctions of sarcoma-specific fusion proteins, genetic abnormalities other than translocations, molecul

236 und among patients with SCID caused by other genetic abnormalities (P= .001).

237 tion in the tendency to develop this type of genetic abnormality (P < 0.001).

238 multiple predisposing factors related to its genetic abnormality, posing a challenge for the manageme

239 This suggests that additional genetic abnormalities, possibly on chromosome 3p where t

240 Our data indicate that genetic abnormalities potentially critical to breast tum

241 that is based on targeting these underlying genetic abnormalities presupposes that sustained inactiv

242 SKCC) for incidence of gene amplification, a genetic abnormality previously shown to be associated wi

243 ASD/MD cases (79%) were not associated with genetic abnormalities, raising the possibility of second

244 e shortening is by far the most common early genetic abnormality recognized to date in the progressio

245 an inherited disorder; however, the precise genetic abnormality remains unknown.

246 success has been achieved in targeting some genetic abnormalities, several challenges and limitation

247 As functional correlates of underlying genetic abnormalities, signal-transduction abnormalities

248 therapy lymph node specimens frequently have genetic abnormalities similar to the metastatic teratoma

249 nge of phenotypes associated with individual genetic abnormalities, so that the same defects can even

250 nt age, tumor size, response to therapy, and genetic abnormalities, specifically the loss of genetic

251 Early T-precursor phenotype and genetic abnormalities such as activating ABL1 fusions, N

252 and neck (HNSCC) have demonstrated multiple genetic abnormalities such as activation of various onco

253 nt synthetic lethality could be predicted by genetic abnormalities such as oncogenes BCR-ABL1 and PML

254 dependency through acquisition of additional genetic abnormalities such as t(1;14)(p22;q32) and t(1;2

255 ression of c-MYC can be aberrantly driven by genetic abnormalities, such as chromosomal translocation

256 the cellular level of dNTP pools may lead to genetic abnormalities, such as genome rearrangements, or

257 Finally, further genetic abnormalities, such as inactivation of the tumou

258 es without t(11;18)(q21;q21), but with other genetic abnormalities, such as trisomy 3 or microsatelli

259 ts with this translocation harbor additional genetic abnormalities, suggesting a requirement for coop

260 Risk factors for CNS relapse included the genetic abnormality t(1;19)(TCF3-PBX1), any CNS involvem

261 on of breast-cancer metastasis contain fewer genetic abnormalities than primary tumours or than DCCs

262 about 1500 tumors and is beginning to reveal genetic abnormalities that are characteristic of certain

263 al disorders can be caused by many different genetic abnormalities that are individually rare but col

264 the same broad spectrum of physiological and genetic abnormalities that characterize diabetes outside

265 se cultures contain cell cycle and molecular genetic abnormalities that closely parallel those previo

266 romes have led to identification of specific genetic abnormalities that contribute to malignancy.

267 lymphoblastic leukemia (ALL) and to identify genetic abnormalities that drive disease in these patien

268 rs through an accumulation of cell cycle and genetic abnormalities that have been documented in vivo.

269 Commonly observed genetic abnormalities that likely contribute to pathogen

270 al to induce infertility and even to lead to genetic abnormalities that may be propagated to the resu

271 s, progress has been made in determining the genetic abnormalities that may lead to AF.

272 tle is known regarding the specific acquired genetic abnormalities that must underlie such clonal exp

273 itrarily primed-PCR (AP-PCR) assay to detect genetic abnormalities that occur in a panel of lymphoid

274 Genetic abnormalities that result in expression of chime

275 lastic leukemia, potentially a reflection of genetic abnormalities that subvert normal apoptotic prog

276 maly was detected in 22 of 22 specimens with genetic abnormalities that were established by other gen

277 Aneuploidy is the leading genetic abnormality that leads to miscarriage, and it is

278 not MALT1 or IgH translocation, is a common genetic abnormality that may contribute to the pathogene

279 histiocytosis (FHL), have various underlying genetic abnormalities, the frequencies of which have not

280 remission induction correlated with adverse genetic abnormalities--the Philadelphia chromosome and M

281 rovement in the diagnostic yield of prenatal genetic abnormalities through the application of next-ge

282 Epigenetic and genetic abnormalities thus collaborate in cancer initiat

283 Genetic abnormalities underlie many cases presenting as

284 The genetic abnormalities underlying AML are extremely heter

285 ship exists between these different forms of genetic abnormalities was previously unknown.

286 Genetic abnormalities were confirmed using fluorescence

287 Genetic abnormalities were detected in 118 (65%) of 182

288 Lastly, no genetic abnormalities were found in the remaining 28 pat

289 Ten genetic abnormalities were found to be statistically ass

290 robe amplification showed that none of these genetic abnormalities were neither predictive nor respon

291 Increasing genetic abnormalities were noted by the end of follow-up

292 s from 22 patients with SCID caused by other genetic abnormalities were similarly assessed.

293 pically lack the molecular machinery and the genetic abnormalities, which characterize true cancers,

294 leukaemia emerged that had acquired several genetic abnormalities while having intact Dicer1.

295 Our results suggest that patients with this genetic abnormality who have T-cell ALL or are 1 to 9 ye

296 Screening patients at relapse for key genetic abnormalities will enable the integration of gen

297 interesting questions about the linkage of a genetic abnormality with a clinical phenotype.

298 A 500K SNP array analysis uncovered frequent genetic abnormalities, with cryptic deletions constituti

299 ceptor (EGFR) are the most common actionable genetic abnormalities yet discovered in lung cancer.

300 iocyte-rich B-cell lymphoma, including fewer genetic abnormalities, younger age at presentation, and