ライフサイエンスコーパス: mutation

1 hibition of wildtype PfFNT and the Gly107Ser mutation.

2 of the disease mechanism associated with the mutation.

3 gene function rather than a loss-of-function mutation.

4 s were significantly influenced by the SMAD3 mutation.

5 MIIA contractile activities depending on the mutation.

6 ke pan-family assays robust and resilient to mutation.

7 d Wnt/beta-catenin signaling induced by this mutation.

8 arriers for at least one dominant atopy risk mutation.

9 effect predictors for identifying pathogenic mutations.

10 ere BRCA1+, 30% were BRCA2+, and 2% had both mutations.

11 ons are more frequent in melanoma than PBRM1 mutations.

12 e, the tremendous number of loci with causal mutations.

13 ntification of dozens of HIV drug-resistance mutations.

14 individual cells for the detection of mosaic mutations.

15 identify gene-specific enrichment of de novo mutations.

16 ted data are available in patients with BRCA mutations.

17 th gPALB2 (ORR, 82%) and sBRCA1/2 (ORR, 50%) mutations.

18 yed clinical milestones in patients with DMD mutations.

19 /CD70 homozygous deletions, and TP53 and MYC mutations.

20 are likely to harbor key affinity-increasing mutations?

21 D) is the result of one of these deleterious mutations (102C > A), in the first exon of the GBE1 gene

22 1 mutations (8 of 27) inhibit while class 2 mutations (5 of 27) enhance PFC neurogenesis.

23 gression after TAE compared to those without mutation (6-month cumulative incidence of local progress

24 Class 1 mutations (8 of 27) inhibit while class 2 mutations (5 o

25 lease deficiency shed light on mechanisms of mutation accumulation and considerations for immunothera

26 ologically normal human tissues suggest that mutations alone are not sufficient for tumor development

27 No responses were observed with ATM or CHEK2 mutations alone.

28 GAP (p190A) is significantly altered by both mutation and allelic deletion in human cancer, but the f

29 the recurrent histone H3 lysine 27 (H3 K27M) mutation and express the H3 K27M-mimic EZHIP (CXorf67),

30 Using bioinformatics, mutation and NMR, we identify a 7-residue sequence, name

31 s characterized by presence of the KIT D816V mutation and pathologic accumulation of neoplastic mast

32 Single-cell mutation and phospho-protein analyses reveal the segrega

33 sly reported a rat carrying a TUBB4A (A302T) mutation and sharing most of the clinical and radiologic

34 identified as carriers of the familial CDH1 mutation and subsequently received gastrectomy.

35 BC and associated with coexisting actionable mutations and a high TMB.

36 further reveal functional effects of somatic mutations and copy number variations (CNVs) not evident

37 Cancers harbor many somatic mutations and germline variants, we hypothesized that th

38 lls, potentially explaining the link between mutations and increased cardiovascular risk.

39 development as governed by molecular subtype mutations and lineage-restricted differentiation.

40 t genes, and were enriched in motif-rewiring mutations and structural variants.

41 We also provide an update on known mutations and sulfonylurea therapy in neonatal diabetes

42 Most PLP1 mutations, including point mutations and supernumerary copy variants, lead to sever

43 lfunction of disease-associated XPA missense mutations, and contribute to understanding of the struct

44 subdominant neoantigen epitopes derived from mutations, and leads to an effective rejection of both v

45 specific substitution and insertion/deletion mutations, and provided evidence for correction of mis-a

46 tors can easily observe copy number changes, mutations, and structural events in cancer samples.

47 e an oncogenic mechanism of action for ACVR1 mutations, and suggest therapeutic strategies for DIPGs.

48 ted by accessory subunits, oncogenic histone mutations, and the methylation state of chromatin.

49 abnormalities in GPHYSD1 patients with this mutation are caused by loss of O-fucosylation on TSR3 an

50 Using osteoblast models, the identified mutations are demonstrated to exert a gain-of-function m

51 Somatic mutations are major genetic contributors to cancers and

52 Notably, ARID2 mutations are more frequent in melanoma than PBRM1 mutat

53 We identify that ARID1A inactivating mutations are present at a high frequency in advanced en

54 The complete escape maps predict which mutations are selected during viral growth in the presen

55 Mutations are the source of both genetic diversity and m

56 De novo mutations arising on the paternal chromosome make the la

57 We previously described the H3.3K27M mutation as a shared neoantigen in HLA-A*02.01+, H3.3K27

58 platinum-based chemotherapy and provide TP53 mutations as potential targets.

59 We engineered a DUB mutation (Asp1772 to Ala) into a murine coronavirus and

60 cation and the discovery of loss-of-function mutations associated with human disease.

61 ars) had deleterious germline BRCA1 or BRCA2 mutation-associated, histologically or cytologically con

62 duced pluripotent stem cells, we show that a mutation at the C terminus of eIF2gamma impairs CDC123 p

63 The first comprises mutations at a nonanchor residue, for which we find that

64 sed on Tempel that enables us to predict the mutations at any specific residue site.

65 conventional genomic markers (such as tumor mutation burden and neoantigen load) and the degree of C

66 sed skin (for example, the face) had a lower mutation burden than melanocytes from intermittently sun

67 lymerase epsilon (POLE) have incredibly high mutation burdens.

68 the functional consequences of nonsynonymous mutations by using bioinformatic scores.

69 y extend the lives of patients with a common mutation called FLT3-ITD.

70 Our results indicate that mutations can affect the length in distinct ways.

71 T-cell clones carrying key oncogenic driver mutations can be detected in cases of ATL years before t

72 of heterozygosity and temporal dissection of mutations can be exploited to identify novel tumor suppr

73 Whether therapies targeting these mutations can eradicate premalignant cells is unclear.

74 Mutations can render the receptor active even in the abs

75 s and controls, or any of the presymptomatic mutation carriers and controls.

76 bjective was to evaluate whether preclinical mutation carriers demonstrate unique FTD-related symptom

77 Preclinical mutation carriers exhibited neuropsychiatric symptoms co

78 Separately, we studied 117 mutation carriers from the DIAN (Dominant Inherited Alzh

79 ore, the classical monocyte subset of DNMT3A mutation carriers showed increased expression of T-cell

80 Collectively, the data show that FDD and FBD mutations cause a reduction of BRI2 levels and function

81 However, the mechanism by which the UBQLN2 mutations cause disease remains unclear.

82 and carbon tetrachloride (CCl(4)) to induce mutations, chronic liver damage, and carcinogenesis.

83 Disease-mutations cluster within the conserved N-Lip and C-Lip r

84 levels in patients with biallelic PRKN/PINK1 mutations compared to healthy control subjects in a Germ

85 n, in vitro modeling demonstrated that these mutations conferred increased migratory capability, sugg

86 ronidase (IDUA) gene (c.19_20insCGGCCCCC), a mutation confirmed in another Boston Terrier presented 2

87 urbations that were reversed in the isogenic mutation-corrected cells.

88 at 2347 nonsynonymous SNPs and 51 frameshift mutations could differentiate the salt tolerant from the

89 Notably, most of these mutations create new exons.

90 ines before and after correction of the CFTR mutation, demonstrating their future potential for disea

91 cting over 2.5 million nonsynonymous somatic mutations derived from 6,789 tumor exomes across 14 canc

92 2%), with little to no unintended off-target mutations detected.

93 The mutation did not affect surface expression and ligand bi

94 pression system, we observed that this ELANE mutation diminishes enzymatic activity and granulocytic

95 The ratio of non-synonymous to synonymous mutations (dN/dS) has become a popular method to detect

96 olving these two genes, with the CTNNB1 S45F mutation downregulating expression of RUNX3, thus provid

97 xperimental data that illustrate how genetic mutations drive telomere shortening and dysfunction in t

98 This study evaluated the effect of Msx2-null mutation during experimental periodontitis in mice.

99 l effects of a patient-derived CF-phenotypic mutation, E217G, located in the loop region of CFTR's me

100 broblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization,

101 LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state:

102 rast, p190A forms harboring recurrent cancer mutations exhibit loss of function in modulating the Hip

103 of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error

104 The mutation found, P542R (proline was replaced by arginine

105 is supported by early clinical evidence, the mutation frequencies of these and other functionally rel

106 hyde-induced crosslinks results in increased mutation frequency and an altered mutational spectrum co

107 d characterized their cancer-derived somatic mutations from an evolutionary perspective.

108 HCCs with NRF2 pathway mutation had a shorter time to local progression after T

109 CLM/EHD is unclear and the impact of somatic mutations has not been reported.

110 To our belief, PIK3CA mutations have also not been previously demonstrated in

111 In humans, cofilin-2 (CFL2) mutations have been associated with congenital myopathie

112 In addition, we show that cancer somatic mutations have different effects on TF binding sites fro

113 The most common mutation in field-selected larvae from India was also de

114 Furthermore, we found that the rd10 mutation in Pde6b led to a reduction in the assembled PD

115 ovince was mainly due to a P106S target-site mutation in the 5-enolpyruvylshikimate 3-phosphate synth

116 Interestingly, a point mutation in the ADAM17 JMD identified in a patient with

117 The expansion mutation in the C9orf72 gene is the most common known ge

118 show that in Medicago truncatula, a homeotic mutation in the co-transcriptional regulator gene NODULE

119 A homozygous missense mutation in the gene encoding the estrogen receptor alph

120 The detected new nonsense mutation in the TYMP gene would be very important for ge

121 IPEX) syndrome is a lethal disease caused by mutations in a transcription factor critical for the fun

122 pathogenesis, whereby acquisition of founder mutations in activated B cells favors the development of

123 HVDAS is caused by mutations in activity-dependent neuroprotective protein

124 o suggest that A(H3N2) may undergo antigenic mutations in both summers and winters and thus monitorin

125 Thus, we propose that mutations in centrosome genes cause microcephaly by dela

126 e due to the antagonistic fitness effects of mutations in changing environments.

127 ET2, which are among the most commonly found mutations in CHIP, lead to increased expression of infla

128 he relevance of OXPHOS status and role of CI mutations in chRCC remain unknown.

129 Mutations in CUBN cause Imerslund-Grasbeck syndrome (IGS

130 Point mutations in cysteine string protein-alpha (CSPalpha) ca

131 c/post-SnAc regions, with disease-associated mutations in either causing attenuated chromatin remodel

132 rcinoma (ccRCC), is characterized by genetic mutations in factors governing the hypoxia signaling pat

133 Heterozygous mutations in FH are associated with complement-related d

134 These findings imply that patient mutations in FOR005 can stabilize the fibril structure.

135 ietic stem cells (HSCs) occasionally acquire mutations in genes including DNMT3A that enable them to

136 Further research has examined mutations in genes involved in chromosome remodelling (f

137 h confidence for effects on splicing even of mutations in genes not expressed in accessible tissue.

138 sly than mitochondria containing deleterious mutations in hetreoplasmic cells.

139 LBCL-IRF4 had frequent mutations in IRF4 and NF-kappaB pathway genes (CARD11, C

140 Gain-of-function mutations in KCNT1, the gene encoding Slack (K(Na)1.1) c

141 ndex cases of PID found that disease-causing mutations in known genes that are implicated in monogeni

142 ing phenotype similar to that of plants with mutations in lhp1 due to the upregulation of FT expressi

143 predictable and deletion-only MMEJ-mediated mutations in many plant species.

144 of NKD resulting from compound heterozygous mutations in minichromosomal maintenance complex member

145 erative neoplasms (MDSs/MPNs) harbor somatic mutations in myeloid-related genes, but still, current d

146 Mutations in NHE6 cause complex, slowly progressive neur

147 Mutations in nuclear export stabilized substrates, and c

148 on of damaged mitochondria via mitophagy and mutations in Parkin are a major cause of early-onset Par

149 Dominant and recessive mutations in podocalyxin (PODXL) are associated with hum

150 ations in VC genes as compared to those with mutations in PT genes.

151 ssible mechanistic link between early driver mutations in RAS and KIT and the widespread copy number

152 Mutations in retinoid isomerase (RPE65) or lecithin-reti

153 Mutations in Shank3 are strongly associated with autism

154 in thermostability changes upon single point mutations in silico is a challenge that has implications

155 tants were identified in two patients, NT5C2 mutations in six patients, and PRPS1 mutants in two pati

156 Homozygous loss-of-function mutations in SLC39A8 result in undetectable serum mangan

157 tion, imprinting, and DNA damage repair, and mutations in SMCHD1 can cause facioscapulohumeral muscul

158 we show that although structurally clustered mutations in SNAP25 give rise to related synaptic transm

159 Pathogenic mutations in some laminins have been shown to cause a ra

160 Similar to germline mutations in telomere biology genes leading to bone-marr

161 Mutations in TET2, which are among the most commonly fou

162 d identify novel candidates, including point mutations in the 5' region of TP53, in the 3' untranslat

163 ivity is highly sensitive to truncations and mutations in the conserved N terminus of the Rubisco lar

164 tics, we identified Glt(Ph) gain-of-function mutations in the flexible helical hairpin domain HP2 and

165 Mutations in the galactosidase beta 1 (GLB1) gene cause

166 s of Alzheimer's disease (FAD) are caused by mutations in the gene encoding amyloid precursor protein

167 Human tumors with exonuclease domain mutations in the gene encoding DNA polymerase epsilon (P

168 Individuals with germline mutations in the gene encoding phosphatase and tensin ho

169 opmental disorder Rett syndrome is caused by mutations in the gene Mecp2 Misexpression of the protein

170 More recently, FHHt-causing mutations in the Kelch-like 3-Cullin 3 (KLHL3-CUL3) E3 u

171 Mutations in the lamin A/C gene (LMNA) are identified in

172 spectrum and associated phenotype of CEP290 mutations in the largest German cohort observed by a sin

173 Recently, gain-of-function mutations in the mechanosensitive ion channel PIEZO1 wer

174 Dominant mutations in the mitochondrial paralogs coiled-helix-coi

175 hwann cell tumors characterized by biallelic mutations in the neurofibromatosis type 1 (NF1) tumor su

176 osmotic stress responses were suppressed by mutations in the NLR gene SNC1 or the immunity regulator

177 Missense mutations in the p53 DNA-binding domain (DBD) contribute

178 Mouse-adaptive mutations in the RV-A16 2C protein allowed for robust re

179 Mutations in the transcription factor FOXC2 are predomin

180 y selected for viral variants that contained mutations in the viral open reading frame 5 (ORF5) prote

181 d TSC2 are important tumour suppressors, and mutations in them underlie the disease tuberous sclerosi

182 Mutations in these regions abolish their interaction.

183 Mutations in TP53 are associated with poorer CRC-specifi

184 ere significantly lower in all patients with mutations in VC genes as compared to those with mutation

185 ssential developmental transcription factor, mutations in which have recently been associated with CA

186 The discovery of MYD88 and CXCR4 mutations in WM has facilitated rational drug developmen

187 abundant mutations, including cancer driver mutations, in histologically normal human tissues sugges

188 Recent observations of abundant mutations, including cancer driver mutations, in histolo

189 Most PLP1 mutations, including point mutations and supernumerary c

190 e develop an Individualized Network-based Co-Mutation (INCM) methodology by inspecting over 2.5 milli

191 llel to FUS knockout, allowing us to compare mutation-induced changes to genuine loss of function.

192 ssified through integration of histology and mutation information, with new developments in DNA methy

193 Noteworthy, MDS-associated mutations infrequently emerged after high-dose therapy.

194 ic copy number alteration (SCNA) rather than mutation is a hallmark of hormone-secreting adenomas and

195 emoved during surgery; (ii) The expanded CTG mutation is one of the most prevalent disease-causing mu

196 The ability to identify single-nucleotide mutations is critical for probing cell biology and for p

197 Thus, the function lost by these mutations is essential to cell survival.

198 The effect of CotB2 mutations is studied using multiscale mechanistic dockin

199 he influence of genetic background on driver mutations is well established; however, the mechanisms b

200 t the mechanisms by which alpha2-Na/K ATPase mutations lead to the migraine phenotype remain incomple

201 Melanomas frequently harbor activating NRAS mutations leading to activation of MAPK kinase (MEK) and

202 ctivation of Pten gene through deletions and mutations leading to excessive pro-growth signaling path

203 is one of the most prevalent disease-causing mutations, making it possible to obtain pre-symptomatic

204 It is not known how activating ESR1 mutations may alter the predictive values of molecular i

205 heterozygosity for functional complementary mutations may protect individuals from FA.

206 The gain-of-function mutation N629D at the outer mouth of the selectivity fil

207 ue FTD-related symptoms relative to familial mutation non-carriers.

208 be facilitated by permissive or compensatory mutations occurring across the viral genome.

209 In zebrafish, a mutation of bicra that mimics one of the loss-of-functio

210 Paradoxically, mutation of Fig4 results in lower PI3,5P2, indicating th

211 ficial sea water at 4 degrees C, whereas the mutation of hapR led to fast entry into the VBNC state.

212 A genetic approach revealed that triple mutation of impalpha-1, impalpha-2 and impalpha-3 result

213 Previous studies suggest that mutation of the NPC1-SSD or the addition of the anti-fun

214 Mutations of CXCR4 residues located at a putative dimeri

215 ined neoantigens, predicted neoepitopes, and mutations of driver genes were concatenated into a singl

216 ical networks are particularly vulnerable to mutations of Mecp2 in PV neurons.

217 Mutations of the ion pump alpha2-Na/K ATPase cause famil

218 Mutations of the regulatory subunit (PRKAR1A) of the cyc

219 B vitamins are essential for survival, null mutations often have embryo lethal phenotypes that preve

220 s of protein stability over a data set of 87 mutations on five different proteins has drastically imp

221 study sheds light on the influence of PBRM1 mutations on IFNgamma-STAT1 signaling and TME, and can i

222 first web server for assessing the impact of mutations on m7G status, and the first database recordin

223 Of these 59 mutations, only 11 had moderate-to-high penetrance and i

224 that require multiple steps, introduction of mutations, or use of enzymes.

225 WM harbored significantly more clonal CXCR4 mutations (P = .015), deletion 13q (P = .006), splenomeg

226 our results provide insights into how FOXA1 mutations perturb its function to dictate cancer progres

227 activity, but the introduction of the eight mutations present in the 'Dd2' isoform of PfCRT (PfCRTDd

228 OR = 1.55, P = 0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene,

229 TR-targeting drugs and second-site revertant mutation R1070W.

230 sis, we introduced the cancer-associated PRD mutation R3008H (R3016 in mouse) into mice.

231 We further identified a marginal increase in mutation rate in tumors in African Americans with increa

232 natural bedrock radioactivity influence the mutation rate possibly through the accumulation of oxida

233 DNA mismatch repair that confer an elevated mutation rate.

234 , resulting in one of the lowest spontaneous mutation rates in the body.

235 The functional consequence of CK1alpha mutation remains unknown.

236 owever, the environmental dependence of most mutations remains unknown.

237 d its resistance to stresses found that both mutations result in similar nuclear envelope perturbatio

238 The G(s)alpha mutation results in dysregulation of the cAMP signaling

239 Understanding how oncogenic mutations rewire regulatory-protein networks is importan

240 -week-old foetus homozygous for the nonsense mutation RFX6 c.1129C>T, which revealed loss of the panc

241 Here, we reveal the importance of a mutation's collateral fitness effects, which we define a

242 es (RR: 1.9; 95% CI: 1.6, 2.3; P = .02); RB1 mutation (seen in 19 of 103 patients, 18.4%) was associa

243 TP53 mutation (seen in 58 of 103 patients, 56%) was associate

244 We conclude that the tubulin mutation severely impairs the central hearing pathway mo

245 The missense mutation severely limits the glycosylation of NCSTN to i

246 nal availability and provided information on mutation severity.

247 Mice that are heterozygous for the missense mutation show no behavioural abnormalities but do have s

248 Both mutations showed pro-apoptotic sensitization by reduced

249 roceeded from standing variation and de novo mutations; shown how antagonistic pleiotropy and tempora

250 data suggests that the relative abundance of mutation signatures partitions POLE tumors into distinct

251 center B-cell (GCB) subtype and carried gene mutations similar to the adult counterpart (eg, SOCS1 an

252 (gHFI) determines which and how many somatic mutations (sM) must occur for malignant transformation.

253 hyperplastic cells to malignancy and confer mutation-specific characteristics associated with oncoge

254 cer.RESULTSThe vaccine was safe and elicited mutation-specific T cell responses against predicted neo

255 as potential biomarkers for determining BRAF mutation status and as predictors of 5-year OS in patien

256 ifferences in patient demographics, IDH/MGMT mutation status, or treatment.

257 nts with CNL and aCML, irrespective of CSF3R mutation status.

258 cells targeting tumour-specific driver gene mutations, such as the four-nucleotide duplication in th

259 s constitutively elevated without activating mutations, suggesting a non-genetic basis for enhanced a

260 h both twins harbored identical rare somatic mutations, suggesting a shared cell of origin.

261 Results indicate that different MYH9-RD mutations suppressed MK migration in the BM without comp

262 One of these isolates carried a mutation that affected the gene encoding the carbon stor

263 Importantly, we identified a single mutation that augments spontaneous release without alter

264 r, a subset of patients carries spliceosomal mutations that affect non-hotspot residues, whose potent

265 competition via cross-immunity and antigenic mutations that allow immune escape impact influenza epid

266 Mutations that are not aligned with this central oncogen

267 Our findings suggest certain mutations that arise as P. aeruginosa adapts to the CF l

268 the initial identification of FH-associated mutations that diminish PCSK9's ability to bind LDL repo

269 suffered resistance due to destabilizing HA mutations that do not compromise replicative fitness in

270 d genetic code, providing robustness against mutations that increase carbon and nitrogen incorporatio

271 se recording 1218 disease-associated genetic mutations that may function through regulation of m7G me

272 w subtler missense substitutions or nonsense mutations that partially truncate its C-terminal cytopla

273 majority of ELF3 alterations are frame-shift mutations that result in several cancer-specific neoanti

274 Unlike most SHP2-activating mutations, the T507K substitution in SHP2 is unique in t

275 MFRP and TMEM98 were negative, while a novel mutation, Thr518Met was detected in MYRF.

276 rovides a robust tool to identify additional mutations to facilitate genetic diagnosis in genodermato

277 Known resistance mutations to targeted therapies were numerically more fr

278 n be used to characterize fitness effects of mutations under different stress conditions.

279 Genetic mutations (usually with autosomal recessive inheritance)

280 The p106 mutation was not found in the19 biotypes scored as S, R1

281 The immune deficiency caused by the Pdia6 mutation was, with the exception of a residual T cell de

282 virus containing an EndoU catalytic-inactive mutation, we detected a higher abundance of PUN RNA in t

283 onsistently, plants carrying the BRI1(Y898F) mutation were hypersensitive to BRs.

284 ith isoniazid resistance mediated by an inhA mutation were randomized to receive isoniazid 5, 10 or 1

285 The casewise concordance rates for mutations were calculated to assess genetic predispositi

286 Mutations were detected in BRAF (39%), NRAS (21%), and/o

287 GPR161 mutations were exclusively associated with the sonic hed

288 Importantly, no mutations were found in the M-DeltaM51 protein, and no d

289 the M-DeltaM51 protein, and no deletions or mutations were found in the p53 or eqFP650 portions of v

290 In vivo, these groove mutations were found to significantly alter the structur

291 All 3 mutations were hERG trafficking defective in iPSC-CMs.

292 Causative mutations were identified for three lines using deep seq

293 NOTCH1 mutations were most common (23%), followed by SF3B1 (16%

294 mutants have an unnoticed fah1-2 background mutation, which could cause salicylic acid- and EDS5-ind

295 r leiomyoma model driven by the Kras(G12V/+) mutation will also be useful in deciphering the malignan

296 mation about the origins and accumulation of mutations with aging/maturation and has implications for

297 ch is most pronounced in cases carrying TP53 mutations with predicted 0% transcriptional activity (HR

298 Catalytic-inactivating mutations within the Drosophila enhancer H3K4 mono-methy

299 e most prevalent symptom caused by biallelic mutations within the leucine zipper-like transcription r

300 sing wild-type (WT) ER or an activating ESR1 mutation, Y537S-ER, were used to generate tumor xenograf