ライフサイエンスコーパス: gene mutation

1 icroraft array and screened for the targeted gene mutation.

2 red by the presence of HCM truncating Mybpc3 gene mutation.

3 common genetic disorders caused by a single gene mutation.

4 ions, which makes it particularly suited for gene mutation.

5 mous and stromal effects of the germline Nf1 gene mutation.

6 e analyzed for a clinically relevant cardiac gene mutation.

7 neomycin insertion (neo) as the germline Nf1 gene mutation.

8 isability and autism resulting from a single gene mutation.

9 was correlated with age, sex, and alpha-Gal gene mutation.

10 colorectal cancer in the mouse via a single gene mutation.

11 ith age, maximal wall thickness, and type of gene mutation.

12 ses revealed distinct profiles for each PRNP gene mutation.

13 n individuals who bear the same germline NF1 gene mutation.

14 lective expansion of HSPCs carrying specific gene mutations.

15 he phenotypic consequences of specific cilia gene mutations.

16 ties in asymptomatic carriers of ALS-causing gene mutations.

17 umor progression even in the absence of NCoR gene mutations.

18 ly 50% of peripheral blood CLL cases lacking gene mutations.

19 s representative tumor information including gene mutations.

20 and heterotaxy in mice and humans with cilia gene mutations.

21 f a gold standard, that is, bona fide driver gene mutations.

22 henotypic expression pattern caused by cilia gene mutations.

23 fast, and can identify both known and novel gene mutations.

24 patients with early-onset CRC, 72 (16%) had gene mutations.

25 APA-related aldosterone-stimulating somatic gene mutations.

26 majority of patients with gamma-sarcoglycan gene mutations.

27 th Charcot-Marie-Tooth disease caused by MPZ gene mutations.

28 n in epileptic encephalopathies due to other gene mutations.

29 to both number and combinations of recurrent gene mutations.

30 cing (WES) were performed to find the causal gene mutations.

31 nd FLT3-internal tandem duplication and NPM1 gene mutations.

32 ) is a progeroid-like syndrome caused by WRN gene mutations.

33 ts were detected to carry heterozygous TGFBI gene mutations.

34 ates the landscape of potentially targetable gene mutations.

35 nsequences of naturally occurring regulatory gene mutations.

36 articipants had moderate-penetrance CRC risk gene mutations (19 monoallelic MUTYH, 17 APC*I1307K, two

37 mors, and 40 patients (83.3%) had at least 1 gene mutation: 37 had Lynch syndrome (13, MLH1 [includin

38 349 isolates (excluding those with 23S rRNA gene mutations), 85 (24%) had clarithromycin MICs of </=

39 tumors, and 32 patients (8%) had at least 1 gene mutation: 9 had mutations in high-penetrance CRC ge

40 We report that major truncating BCOR gene mutation affecting HSPC and CMP was beneath the thr

41 PFH with beta-thalassemia- or SCD-associated gene mutations alleviates their clinical manifestations.

42 nts, selective pressure in vivo resulting in gene mutations, altered expression of redox-active prote

43 primary structure alterations resulting from gene mutations, alternative splicing, post-translational

44 The uniformity of known driver gene mutations among metastases in the same patient has

45 quency and spectrum of cancer susceptibility gene mutations among patients with early-onset CRC.

46 nia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy contro

47 ctive in some but not all patients with BRAF gene mutation and are largely ineffective in those with

48 rofile of MTC with regard to the type of RET gene mutation and the cancer genetic background (heredit

49 h disease severity dependent on the specific gene mutation and the ratio of mutant to wild-type mtDNA

50 insight into recently identified complement gene mutations and brain disorders.SIGNIFICANCE STATEMEN

51 to retinal pathology in patients with TTLL5 gene mutations and connects these two genes into a commo

52 equencing of 619 cancer genes to compare the gene mutations and copy number alterations in MCV-positi

53 yproduct of evolutionary mechanisms, such as gene mutations and epigenetic modifications, which is ma

54 studies point to novel associations between gene mutations and immune surveillance that could impact

55 alignment and variant filtering detected HLH gene mutations and potential disease-causing variants.

56 P1 is a downstream phenotypic commonality of gene mutations and predicts outcome following rituximab-

57 le heterogeneity, including expression of AR gene mutations and splicing variants.

58 We identify somatic copy number alterations, gene mutations and the basal expression of individual ge

59 Focusing on driver-gene mutations and the pathways they control has rendere

60 men carrying BRCA1 (n = 9) or BRCA2 (n = 14) gene mutations and were compared with images in healthy

61 MFF presence was associated with TSC gene mutations and with brain or multiorgan involvement;

62 or aberrant expression in the protein-coding genes, mutations and misregulation of noncoding RNAs, in

63 Patient history, gene mutation, and multiorgan involvement were obtained

64 nces useful to the study of viral evolution, gene mutation, and the phylogenetic relationships among

65 About 10% of ALS cases are caused by gene mutations, and more than 40 ALS-associated genes ha

66 lationship between this signature and driver-gene mutations, and the cavins/caveolin-1 axis.

67 K13 gene mutations are a primary marker of artemisinin resis

68 Spliceosomal gene mutations are always heterozygous and rarely occur

69 p53 gene mutations are among the most common alterations in

70 von Hippel-Lindau (VHL) gene mutations are associated with clear cell renal cell

71 These results establish that driver gene mutations are associated with methylation alteratio

72 nction and mechanisms of action, except that gene mutations are associated with risks of primary macr

73 n NADPH-cytochrome P450 oxidoreductase (POR) gene mutations are associated with severe skeletal defor

74 e clinical observation that rare coding GLRB gene mutations are associated with the neurological diso

75 Conclusion Germline cancer susceptibility gene mutations are carried by 9.9% of patients with CRC.

76 Although most common laryngeal gene mutations are found in both subclasses, better prog

77 Concurrent gene mutations are frequent in patients with relapsed/re

78 is a component of neuronal granules, and its gene mutations are linked to intellectual disability (ID

79 to recapitulate the CMML phenotype, and many gene mutations are loss of function, making the identifi

80 In current clinical practice, gene mutations are only classified as being present or a

81 ic evidence that leukemias with spliceosomal gene mutations are preferentially susceptible to additio

82 ort here that novel Tyrosine kinase 2 (Tyk2) gene mutations are present in virus-induced diabetes-sen

83 n the case of cancer samples combinations of gene mutations are related to patterns of gene expressio

84 GBA gene mutations are the greatest cause of Parkinson disea

85 oximately 10% of von Willebrand factor (VWF) gene mutations are thought to alter messenger RNA (mRNA)

86 ng from patched domain containing 1 (Ptchd1) gene mutations are unknown.

87 catenin and adenomatous polyposis coli (APC) gene mutations are well established and are known to dri

88 al tumors (GISTs), which lack KIT and PDGFRA gene mutations, are the primary form of GIST in children

89 In this study, we identified a novel ACE gene mutation (Arg532Trp substitution in the N domain of

90 c23b gene trap allele, excluding a passenger gene mutation as the cause of the pancreatic lethality,

91 equency as detected by thymidine kinase (TK) gene mutation assay.

92 sive studies to detect previously documented gene mutations associated with amyloidosis failed to ide

93 We found two kelch13 propeller gene mutations associated with artemisinin resistance--a

94 ers characterized by the presence of several gene mutations associated with particular hematologic pa

95 The driver gene mutation-associated methylation differences between

96 C at position 28 of erm(41) and 23S rRNA rrl gene mutations at position 2058 and/or 2059.

97 nd are largely ineffective in those with RAS gene mutation because of resistance.

98 CS) are human disorders caused by CSA or CSB gene mutations; both conditions cause defective transcri

99 hms to evaluate patients who do not have DMD gene mutations but may have another muscle disorder asso

100 e confirmed this heterogeneity and show many gene mutations but without a unifying mutation.

101 e associated with essentially any sarcomeric gene mutations, but also accurately predicts human cardi

102 g two representative NF1-patient-derived Nf1 gene mutations (c.2542G>C;p.G848R and c.2041C>T;p.R681X)

103 Somatic gene mutations can alter the vulnerability of cancer cel

104 Recent studies have shown that gene mutations can serve as prognostic and/or predictive

105 the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11).

106 Biallelic CD19 gene mutations cause common variable immunodeficiency in

107 insight into the mechanisms behind how titin gene mutations cause hereditary cardiomyopathy and how t

108 TRIM37 gene mutations cause muscle-liver-brain-eye (mulibrey) n

109 KRAS gene mutation causes lung adenocarcinoma.

110 an exponential rate, yet characterizing the gene-mutation-cell-behavior relationships essential for

111 detailed information on associations between gene mutations, clinical patient characteristics, and th

112 We speculate that cilia gene mutations contribute to both syndromic and non-synd

113 mage and after zinc finger nuclease-mediated gene mutation correction, mtDNA damage was no longer det

114 real human genetic variations from the Human Gene Mutation Database (inherited disease-causing) and t

115 single nucleotide variants (SNVs) from Human Gene Mutation Database and 10 002 putatively 'benign' no

116 set of human variants derived from the Human Gene Mutation Database, ClinVar and the Exome Aggregatio

117 arger collection of mutations from the Human Gene Mutation Database, MAPPIN is able to significantly

118 filtering criteria and the ClinVar and Human Gene Mutation databases.

119 ystonia, a motor disorder caused by a single gene mutation, demonstrate increased long-term potentiat

120 d the highest diagnostic performance for IDH gene mutation detection in low-grade glioma (AUC, 0.818)

121 nology for clinical diagnosis such as cancer gene mutation detection, infectious disease detection, i

122 st demonstration that different germline NF1 gene mutations differentially dictate neurofibromin func

123 The distribution of CHIP-related gene mutations differs between individuals with therapy-

124 d reveal mechanistic distinctions between RP gene mutations driving hematopoietic disease and those r

125 own as the p.K210del) and the non-sarcomeric gene mutation encoding lamin A/C (LMNAp.R331Q ).

126 ase (FD) caused by GLA(alpha-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (

127 Among the latter, F8 gene mutations, ethnicity, family history of inhibitors,

128 patients carrying the loss-of-function SCN5A gene mutations examined in this study.

129 astrocytes harboring the R681X germline Nf1 gene mutation exhibit increased basal astrocyte prolifer

130 However, most murine models based on single gene mutations fail to recapitulate the CMML phenotype,

131 We found that gene mutations for EGFR (P = .02) and ALK (P < .001) wer

132 eloping schwannomas with the same underlying gene mutations found in schwannomatosis patients.

133 These findings support that gene mutations found on single pretreatment biopsies wil

134 rved that cancer susceptibility regions have gene mutation frequencies comparable to background mutat

135 tion process, fukutin related protein (FKRP) gene mutations generate a wide range of pathologies from

136 ces from different subsets or tissues for VH gene mutation, H-CDR3-length, and VH/JH usage, comparing

137 Hundreds of L1CAM gene mutations have been shown to be associated with con

138 ypothesize that cells harbouring spliceosome gene mutations have increased sensitivity to pharmacolog

139 ignificantly, circadian and clock-controlled gene mutations have recently been identified by Genome-W

140 Human gene mutations have revealed that a significant number o

141 y included 1128 women with a mismatch repair gene mutation identified from the Colon Cancer Family Re

142 stigated the number of cancer predisposition gene mutations identified by parallel sequencing in indi

143 e CRISPR/Cas9 to generate the first targeted gene mutation in A. burtoni and show that Ptgfr is neces

144 ble disease, we identified at least 1 driver gene mutation in all patients including actionable somat

145 rp gene mutation in mice, corresponding to a gene mutation in cartilage-hair hypoplasia patients, alt

146 A targeted Rmrp gene mutation in mice, corresponding to a gene mutation

147 At least 1 gene mutation in pancreatitis-related genes was found in

148 athway profiles was studied, and DDR pathway gene mutation in published cohorts was analyzed.

149 sequencing (NGS) to identify the responsible gene mutation in the family.

150 Because of a gene mutation in the FECH gene, ferrochelatase, the enzy

151 he successful correction of a cardiomyopathy gene mutation in viable human embryos.

152 and prognostic relevance of recurrent driver gene mutations in a large cohort representing a broad sp

153 ve disorder caused by fully penetrant single gene mutations in a minority of cases, while the majorit

154 relevance of many recently identified driver gene mutations in adult acute myeloid leukemia (AML) is

155 ic mutations involving a subset of recurrent gene mutations in ASXL1, SRSF2, and TET2, each approachi

156 Single gene mutations in at least 50 genes have been proposed t

157 found to have significant cancer-associated gene mutations in both cell pellet and cfDNA fractions.

158 interpreting the meaning of putative driver gene mutations in cancer, and therefore therapeutic effo

159 The prevalence of driver gene mutations in carcinomas with the intestinal phenoty

160 In this study, we analyzed the RP2 and RPGR gene mutations in five Han Chinese families with XLRP.

161 nifestations of some otherwise puzzling GGCX gene mutations in humans that cause phenotypes ranging f

162 Thus, we propose that discrete gene mutations in intellectual disability can generate "

163 Thus, we propose that discrete gene mutations in intellectual disability might generate

164 Although frequent gene mutations in key signaling pathways, including JAK-

165 istic and biological effects of spliceosomal gene mutations in MDSs as well as the regulation of spli

166 Thus, alarmins and founder gene mutations in MDSs license a common redox-sensitive

167 Recently, gene mutations in patched domain containing 1 (PTCHD1) h

168 prevalence of germline cancer susceptibility gene mutations in patients with CRC unselected for high-

169 coexisting myelodysplastic syndrome-related gene mutations in patients with CSNK1A1 mutations, inclu

170 his setting in view of the high frequency of gene mutations in pediatric cerebrospinal AVFs, and show

171 gical processes that are perturbed by single-gene mutations in primary immune deficiency.

172 shown to be an alternative source to detect gene mutations in primary tumors; however, most previous

173 the multiple variants of TMPRSS2:ERG fusion gene mutations in prostate cancer (PCa), are promising d

174 ion of dominantly inherited alpha-syn (SNCA) gene mutations in rare cases of familial PD.

175 genotoxicity (i.e., DNA adduct formation and gene mutations in target tissues in vivo), the positive

176 As with gene mutations in the cancer genome, a subset of these e

177 Gene mutations in the chromatin remodeling groups were r

178 hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 10

179 de a curated database of 746 currently known genes, mutations in which cause ID (ID-associated genes

180 (7.0%) of 1,058 participants carried non-LS gene mutations, including 23 (2.2%) with mutations in hi

181 method for generating cells carrying precise gene mutations, including the rearrangement and deletion

182 Glucocerebrosidase (GBA1) gene mutations increase the risk of Parkinson disease (P

183 Our study shows that different gene mutations induce DCM via diverse cellular pathways.

184 Our study shows that different gene mutations induce dilated cardiomyopathy via diverse

185 hese studies establish that the germline Nf1 gene mutation is a major determinant of optic glioma dev

186 A GNB2 gene mutation is associated with familial SND+AVB and le

187 TP53 gene mutation is associated with poor prognosis in breas

188 other myocardial abnormality often linked to gene mutations is left ventricular noncompaction (LVNC)

189 creased inflammasome activity resulting from gene mutations is related to monogenic autoinflammatory

190 Testing for FZD4 gene mutations is useful in patients with suspected FEVR

191 mole melanoma (FAMMM) syndrome, related to a gene mutation, is characterized by a diversity of melano

192 d idiopathic PAH is strongly associated with gene mutations leading to reduced expression of bone mor

193 Germ-line GATA2 gene mutations, leading to haploinsufficiency, have been

194 Cardiomyopathy caused by lamin A/C gene mutations (LMNA cardiomyopathy) is characterized by

195 cancer risk for women with a mismatch repair gene mutation (Lynch syndrome).

196 gs suggest that women with a mismatch repair gene mutation may be counseled like the general populati

197 s, suggesting that the specific germline NF1 gene mutation may be one factor underlying disease heter

198 in melanomas, and that concurrent RASopathy gene mutations may enhance its role in melanomagenesis.

199 t research suggests that DNA mismatch repair gene mutations may facilitate acquisition of resistance

200 Ribosomal protein (RP) gene mutations, mostly associated with inherited or acqu

201 Gene mutations, mostly segregating with a dominant mode

202 ion were cancer-associated signaling pathway gene mutations (n = 10) and copy number alterations in M

203 These cells, in the absence of any driver gene mutations, now transform by introducing a single KR

204 (micronucleus), phenotypic mutations (Pig-a gene mutation of RBC(CD24-)) and DNA lesions (single str

205 The frequency of gene mutations of the pathway was significantly higher i

206 To determine the impact of the germline NF1 gene mutation on the optic gliomas frequently encountere

207 renewed approach to calculate the impact of gene mutations on the binding affinity through the struc

208 findings, studies to determine the impact of gene mutations on the trafficking of the Caenorhabditis

209 lts suggest functional disruption of M30 via gene mutation or altered expression as a convergent mech

210 g genetic mutation (such as a BRCA1 or BRCA2 gene mutation or other familial breast cancer syndrome)

211 ulation of misfolded proteins as a result of gene mutations or abnormal protein homeostasis.

212 PIK3CA gene mutations or amplifications that affect the PI3K p1

213 s9 can be applied to correct disease-causing gene mutations or engineer T cells for cancer immunother

214 rage, and genetic analysis confirmed a GLA A gene mutation (p.Asn215Ser) in all 3 patients.

215 loped VF/SCD had a lower prevalence of SCN5A gene mutations (p = 0.009) and a higher prevalence of po

216 Most gene mutations persisted in CR, albeit at highly variabl

217 The extent of heterogeneity among driver gene mutations present in naturally occurring metastases

218 The HD gene mutation produces variable degrees of GP segment de

219 Gene mutation profiles of survived and non-survived pati

220 In rare cases, SCLC tumours exhibited kinase gene mutations, providing a possible therapeutic opportu

221 o applied to analyze the genome-wide somatic gene mutation rate difference between lung adenocarcinom

222 r the detection of the Candida albicans FKS1 gene mutations responsible for resistance to echinocandi

223 cessive lysosomal storage disease where GLB1 gene mutations result in a reduction or absence of lysos

224 We found that each germline Nf1 gene mutation resulted in different levels of neurofibro

225 Objective: To identify the gene mutation(s) accountable for the mottled pigmentatio

226 Further, like somatic gene mutations, S100A9-induced signaling activates NADPH

227 GD patients with genetically confirmed ABCA4 gene mutations seen at the Wilmer Eye Institute with fol

228 odels with human monogenic-migraine-syndrome gene mutations showed migraine-like features, increased

229 ion, integrating conventional parameters and gene mutations significantly improves risk stratificatio

230 We also noticed that the site of the RET gene mutation slightly influenced the gene expression pr

231 For women with a mismatch repair gene mutation, some endogenous and exogenous hormonal fa

232 deleterious pancreatic cancer susceptibility gene mutations, some of which are therapeutically target

233 t strand bias, to enlarge the immunoglobulin gene mutation spectrum from G-C to A-T bases.

234 terization of isocitrate dehydrogenase (IDH) gene mutation status of gliomas.

235 tratified by homologous recombination repair gene mutation status, progression-free interval after th

236 nd screened for filaggrin (FLG) skin barrier gene mutation status.

237 performance for grading and detection of IDH gene mutation status.

238 or FLT3-internal tandem duplication and NPM1 gene mutation subgroups.

239 In cases with an LQTS gene mutation, SUDEP may occur as a result of a predicta

240 many cancers in the absence of inactivating gene mutations, suggesting alternative mechanisms of sil

241 ned statistically significantly fewer driver gene mutations, suggesting an important role for tumorig

242 able penetrance among patients with the same gene mutations suggests involvement of additional mechan

243 Moreover, the high percentage of HLH gene mutations suggests they are risk factors for mortal

244 es in rin/rin mutant, which harbors MADS-RIN gene mutation, suggests that MADS-RIN transcription fact

245 update addresses the utility of extended RAS gene mutation testing in patients with metastatic colore

246 50% more individuals with hereditary cancer gene mutations than does testing for BRCA1/2 alone, whet

247 d more A1762T/G1764A, C2063A, and A2131C HBV gene mutations than those without HBeAg-negative hepatit

248 onal somatic karyotypic abnormalities and/or gene mutations that aid in the diagnosis and can be used

249 Identification of single-gene mutations that cause CAKUT permits the first insigh

250 These data suggest that single gene mutations that cause neurological diseases such as

251 en developed to detect the 23S ribosomal RNA gene mutations that confer resistance to azithromycin.

252 aim of this study was therefore to identify gene mutations that determine Wee1 inhibitor sensitivity

253 There may be specific convergence on gene mutations that disrupt nerve growth factor signalin

254 patients with naturally occurring dystrophin gene mutations that generated internally deleted but par

255 y cases, this is the consequence of specific gene mutations that have the potential to be targeted to

256 ly symptomatic onset and is caused by single-gene mutations that result in overproduction of beta-amy

257 A total of 84 germline DNA-repair gene mutations that were presumed to be deleterious were

258 d viruses, there arose in two vaccinia virus genes mutations that improved viral replication without

259 ors in patients with germline BRCA1 or BRCA2 gene mutations, that this approach could be beneficial.

260 typic variability associated with regulatory gene mutations, the rapid examination of these genes in

261 platform enabling functionalization of rare gene mutations through their high-throughput constructio

262 By linkage analysis, we mapped the Tsk2 gene mutation to <3 megabases on chromosome 1.

263 the cumulative risk for CRC in AAs with MMR gene mutations to be similar to that of individuals of E

264 izations (USVs) are a vital tool for linking gene mutations to behavior in mouse models of communicat

265 oxin-induced AHR pathways can synergize with gene mutations to inhibit MAP3K1 signaling.

266 from genetic polymorphisms and cancer-driver gene mutations to obesity, chronic inflammation, and imm

267 larly interspaced short palindromic repeats) gene mutation, together with expression of fluorescent o

268 in conjunction with diabetes, hypertension, gene mutations, toxins or infections but may also be of

269 al of less fit cells ('losers') but why some gene mutations turn cells into losers is unclear.

270 This study investigated the TGFBI gene mutation types in outpatients clinically diagnosed

271 Homozygous or compound heterozygous IL36RN gene mutations underlie the pathogenesis of psoriasis-re

272 Our data link network defects with a gene mutation underlying depression in humans.

273 L, and our findings narrow the repertoire of gene mutations useful in minimal residual disease-based

274 ential connections for anti-cancer drugs and gene mutations using DI in pharmacogenomic data.

275 Thyroid hormone receptor alpha (THRA) gene mutations, via dominant negative mode, cause erythr

276 patients (2%) with the CT genotype, a SPINK1 gene mutation was found, while in the control group it w

277 A clinically relevant cardiac gene mutation was identified in 31 of 113 cases (27%) of

278 No EphB4 gene mutation was identified.

279 The PLG gene mutation was present in all studied symptomatic pat

280 The presence of sarcomeric gene mutations was associated with increased occurrence

281 A cohort of patients with MPZ gene mutations was identified in 13 centres of the Inher

282 G20210A prothrombin and factor V gene mutations were assessed in sera stored at three lar

283 Moreover, many neuroligin gene mutations were associated with autism, but the path

284 Notably, gene mutations were detected in all the major AML-associ

285 50 years were included in the study, and 75 gene mutations were found in 72 patients (16%).

286 ss the tested CF population as a whole, CFTR gene mutations were found to be the primary determinant

287 r (NR) genes, genetic disorders caused by NR gene mutations were initially discovered by a candidate

288 Histone gene mutations were more frequent than previously report

289 Although more than 30 MPV17 gene mutations were shown to be associated with mitochon

290 ficant changes in women with BRCA1 and BRCA2 gene mutations when compared with control subjects.

291 e genetics of drug resistance, novel somatic gene mutations which allow a tumour to evade therapeutic

292 Passenger gene mutations, which do not have known or predicted fun

293 nsitive (siSN) site that allows for studying gene mutations while maintaining endogenous expression a

294 ma were screened for NF2, SMARCB1, and LZTR1 gene mutations, while patients with meningioma were scre

295 ently being tested in humans with dystrophin gene mutations who have Duchenne muscular dystrophy.

296 We show that the EGFR-DMP can detect EGFR gene mutations within 20 min in a label-free and real-ti

297 e been described, many of which carry single-gene mutations within the growth-hormone, insulin/IGF-1

298 we tested the hypothesis that accounting for gene mutations would further improve risk stratification

299 minant Alzheimer's disease (ADAD), caused by gene mutations yielding nearly complete penetrance and a

300 The commonest pathogenic gene mutation yields Z-alpha1-antitrypsin, which has a p