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 s a distinct form associated with a specific genetic abnormality.

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

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

7 22q11 deletion syndrome is the most common genetic abnormality.

8 defects that are specific to the underlying genetic abnormality.

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

10 markers was associated with the presence of genetic abnormalities.

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

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

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

14 ssion profiling has elucidated the impact of genetic abnormalities.

15 of identifying tumors that contain specific genetic abnormalities.

16 e targeted therapies based on their specific genetic abnormalities.

17 niques have been developed to identify these genetic abnormalities.

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

19 ggest a progressive accumulation of multiple genetic abnormalities.

20 malignant potential and underlying possible genetic abnormalities.

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

22 geneous malignancy characterized by distinct genetic abnormalities.

23 18) translocation and may acquire additional genetic abnormalities.

24 volution of clones of cells with accumulated genetic abnormalities.

25 tant information that can link them to known genetic abnormalities.

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

27 geneous disease encompassing a wide array of genetic abnormalities.

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

29 s and is typically associated with recurrent genetic abnormalities.

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

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

32 obiome, rather than Mendelian inheritance of genetic abnormalities.

33 ses without directly targeting the causative genetic abnormalities.

34 high molecular complexity without targetable genetic abnormalities.

35 ases can be classified according to specific genetic abnormalities.

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

37 o stratify DLBCL patients according to their 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 st cancer is believed to develop as multiple genetic abnormalities accumulate, each conferring some g

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

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

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

45 Identifying the genetic abnormalities and biological drivers prior to AM

46 Correlations between genetic abnormalities and clinical features were examine

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

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

49 Genetic abnormalities and early treatment response are t

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

51 Characterization of genetic abnormalities and genotype-phenotype correlation

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

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

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

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

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

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

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

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

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

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

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

63 %, P<0.001) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-num

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

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

66 Somatic genetic abnormalities are initiators and drivers of dise

67 These genetic abnormalities are likely to contribute to early

68 Genetic abnormalities are not only key events in the ori

69 Genetic abnormalities are present in all tumor types, al

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

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

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

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

74 in our understanding of the biochemical and genetic abnormalities associated with osteogenesis imper

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

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

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

78 X1 to Xq26.2 and reveals the first molecular-genetic abnormality associated with human left-right-asy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

100 Molecular genetic abnormalities detected include the following: 9p

101 tumor suppressor gene p53 is the most common genetic abnormality detected in human cancers.

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

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

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

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

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

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

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

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

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

111 The genetic abnormalities first identified in association wi

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

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

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

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

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

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

118 Genetic abnormalities frequently give rise to a mental r

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

120 ophthalmic involvement in developmental and genetic abnormalities has been recognized for centuries,

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

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

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

124 Genetic abnormalities have been associated with 6 to 13%

125 Several genetic abnormalities have been described, and current r

126 Various genetic abnormalities have been described, but most spor

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

128 Diverse genetic abnormalities have been identified in these hema

129 mosome band 12p13 is among the most frequent genetic abnormalities identified in acute lymphoblastic

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

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

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

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

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

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

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

137 imental technique for studying how localized genetic abnormalities in endothelial cell function lead

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

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

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

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

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

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

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

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

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

147 labsorption-a result of fat malabsorption or genetic abnormalities in lipoprotein metabolism.

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

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

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

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

152 The genetic abnormalities in multiple myeloma and Waldenstro

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

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

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

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

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

158 tumor development have been identified, and genetic abnormalities in patients with multiple endocrin

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

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

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

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

163 Genetic abnormalities in skin barrier function are assoc

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

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

166 Genetic abnormalities in the Fas receptor or its trimeri

167 Genetic abnormalities in the hepatic alpha-tocopherol tr

168 ized by the presence of nonrandom, secondary genetic abnormalities in the majority of Philadelphia1 c

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

170 Genetic abnormalities in the regulation of self-reactive

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

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

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

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

175 translocation are the most common molecular genetic abnormality in childhood acute lymphoblastic leu

176 xample, the TEL-AML1 fusion, the most common genetic abnormality in childhood acute lymphoblastic leu

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

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

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

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

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

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

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

184 This appears to be the most frequent genetic abnormality in multiple myeloma.

185 The genetic abnormality in myotonic muscular dystrophy, mult

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

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

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

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

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

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

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

193 Complex patterns of genetic abnormalities interact to determine the clinical

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

195 Genetic abnormalities involved in the pathogenesis of lu

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

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

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

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

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

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

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

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

204 Somatically acquired genetic abnormalities lead to the salient features that

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

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

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

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

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

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

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

212 Genetic abnormalities may persist after PDT despite phen

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

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

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

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

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

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

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

220 Numerous structural genetic abnormalities observed in acute myeloid leukemia

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

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

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

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

225 Most genetic abnormalities of CML blast crisis have a direct

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

227 Genetic abnormalities of lymphocyte cell death programs

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 moment, however, neither the relation of the genetic abnormality to the underlying mechanisms, nor th

284 Genetic abnormalities underlie many cases presenting as

285 The genetic abnormalities underlying AML are extremely heter

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

287 Genetic abnormalities were confirmed using fluorescence

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

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