ライフサイエンスコーパス: single gene

1 ve more accurate outcome prediction than any single gene.

2 ividuals with disease-causing mutations in a single gene.

3 mutations, though not highly recurrent in a single gene.

4 g silica structure through manipulation of a single gene.

5 r genomes, however, each TAF is encoded by a single gene.

6 76 events of joining of adjacent genes as a single gene.

7 GRNs, in which each node of FCMs represent a single gene.

8 lease and methyltransferase are encoded by a single gene.

9 oung children can be caused by variants in a single gene.

10 chromosomal abnormalities or mutations in a single gene.

11 cell growth and clonogenicity compared to a single gene.

12 p = 0.0046) than subjects with variants in a single gene.

13 o functionally related proteins encoded by a single gene.

14 that typically begins with inactivation of a single gene.

15 oducing functionally diverse proteins from a single gene.

16 same diversity by alternative splicing of a single gene.

17 Resolution was measured as ~30 kb, close to single-gene.

18 eous syndromes are often due to mutations in single genes.

19 f the crosses to resolve hundreds of QTLs to single genes.

20 d pathogenesis, but these studies focused on single genes.

21 eotide changes, deletions and expansions) in single genes.

22 combinations are more stable references than single genes.

23 ely to be understood by examining changes in single genes.

24 ch are predominantly caused by mutation in a single gene(1).

25 s or compound heterozygous DNA variants in a single gene, 30 affecting reported ID genes and 30 affec

26 pt the function of synaptic proteins, but no single gene accounts for >1% of total ASD cases.

27 associated genes identified to date, yet no single gene accounts for >1-2% of cases.

28 orders uncovered pleiotropic effects, with a single gene affecting multiple and apparently unrelated

29 Within this single gene, all of the marker-linked NMP haplotypes fro

30 d, and our knowledge remains restricted to a single gene amplified from environmental DNA, the 18S rR

31 drug-gene sensitivity associations missed by single gene analyses.

32 eep-sea class Cariacotrichea on the basis of single-gene analyses.

33 lesnake (Crotalus atrox) through a number of single gene and multigene duplication events.

34 egy that promotes the functional ablation of single genes and allows for combinatorial targeting.

35 om different bacterial donors involving both single genes and entire operons.

36 stem has revolutionized gene editing both at single genes and in multiplexed loss-of-function screens

37 tionship between the evolutionary history of single genes and the topological properties of the under

38 opulation selected with Cry1F maize on three single-gene and five pyramided Bt cotton products.

39 However, the genetic context of this single gene, and hence the molecular complexity of switc

40 ement position can be caused by changes in a single gene, and that cis-regulatory rewiring can be use

41 to reanalyze a single study, or search for a single gene, and therefore require manual intervention t

42 The single-gene approach impacted minimally on plant growth

43 Attempts to match phenotypes to single genes are mostly inadvisable owing to clinical ov

44 ying biological conditions compared to using single genes as indicators.

45 ematologic malignancies: indication-specific single gene assays, gene panel assays that test for gene

46 Recent investigations based on single-gene assays revealed a remarkable variety of orga

47 The paradigm of a single gene associated with one specific phenotype and m

48 = 1.8-2.7) and revealed a highly significant single-gene association with COL11A2 (P = 6 x 10(-9), OR

49 information cannot be obtained by studying a single gene at the time.

50 Localized synthesis of proteins in a single gene brush enhances their interactions, and displ

51 ially important in areas where resistance to single-gene Bt crops is already widespread.

52 ods have been developed, first to synthesize single genes but ultimately to massively edit or write f

53 sk for these diseases is not determined by a single gene, but rather is polygenic, arising from the a

54 copies should produce twice the output of a single gene, but this expectation has not been rigorousl

55 data show that altering the expression of a single gene can significantly enhance aerial agility and

56 Although mutations in single genes can be used to identify at-risk individuals

57 MutChromSeq identified a single gene candidate encoding a coiled-coil nucleotide

58 This study identified single gene candidates that distinguished TB from OPD an

59 We detected a single-gene cause in 29.5% (526 of 1783) of families wit

60 Mutations in POLG are the most common single-gene cause of diseases of mitochondria and have b

61 e fraction of families with detection of the single-gene cause was as follows: onset in the first 3 m

62 tered behaviours to elevated expression of a single gene, Cdkn1c.

63 Single-gene ChIP and genome-wide ChIP-sequencing (ChIP-s

64 strophy that is caused by mutations within a single gene, CHM Currently no effective treatment exists

65 ons: p = .0004, duplications: p = .0006) and single-gene CNVs (deletions: p = .04, duplications: p =

66 s (XHMM and ExomeDepth) to expand our set of single-gene CNVs and leveraged two different approaches

67 lling has yet to be maximized, and note that single-gene CNVs should be included in gene-focused stud

68 sults point to the potential contribution of single-gene CNVs to schizophrenia, indicate that the uti

69 a large fraction of cases remain outside of single gene coding sequences.

70 native splicing is the critical process in a single gene coding, which removes introns and joins exon

71 our-model comparisons of mutations displayed single-gene concordance across major PDAC driver genes,

72 ng for carrier status of a limited number of single-gene conditions is the current standard of prenat

73 udy proposes that a series of mutations in a single gene controlling floral chemicals influenced poll

74 rmed ratio of telomere repeat copy number to single gene copy number 0.23, 0.09-0.59, p=0.002).

75 Moreover, when a single gene copy shares it's TFs with multiple competito

76 At least a single gene copy was maintained throughout plant evoluti

77 y1Ab/Cry2Ae, or Cry1Ab/Cry2Ae/Vip3A, and the single-gene Cry2Ae cotton.

78 despite many known monogenic causes of FSGS, single gene defects explain only 30% of cases.

79 kin blistering in multisystem disorders with single gene defects highlight the concept of syndromic E

80 ed BA in humans, and the question of whether single gene defects play a major role remains open.

81 and highly heritable, often being caused by single gene defects.

82 Multiple single-gene defects have been identified, resulting in r

83 ential growth phase are elucidated for seven single gene deletion mutants from upper glycolysis, pent

84 Twelve single gene deletion mutants were under selection in thi

85 that is, although many genes may be lost by single-gene deletion events, some may be lost in groups

86 e-wide screen of knockout-mice in a targeted single-gene deletion project.

87 sis of an existing collection of viable ADP1 single-gene deletion strains and a new transposon insert

88 lementation of the respective protein kinase single-gene deletion strains.

89 iable vaccine strategy for Burkholderia, but single-gene-deletion mutants have not provided complete

90 hod on published transcript profiles of 1484 single gene deletions of Saccharomyces cerevisiae.

91 In total, 4 exonic, single-gene deletions were validated in schizophrenia ca

92 trophic cardiomyopathy (HCM) is a prototypic single-gene disease caused mainly by mutations in genes

93 This is the first single gene disorder linked to defects in deubiquitinati

94 verity, and distinctive findings suggested a single gene disorder underlying the phenotype.

95 tion case subjects do not have evidence of a single gene disorder, but rather have the other major ri

96 Recognition of a single-gene disorder as causal for a patient's 'multiple

97 ca have provided new therapeutic options for single gene disorders and for hematologic malignancies.

98 Single gene disorders of the autophagy pathway are an em

99 ties, as well as areas of distinction within single gene disorders.

100 Single-gene disorders accounted for a quarter of the sei

101 eatment of cleft palate conditions and other single-gene disorders affecting the craniofacial complex

102 ance per person in 187 genes associated with single-gene disorders and the proportions of individuals

103 ry efforts have expanded the number of known single-gene disorders associated with stroke and have li

104 Not surprisingly, the genes implicated in single-gene disorders have also been shown to be linked

105 death, to our knowledge, the contribution of single-gene disorders in this group is undetermined.

106 Single-gene disorders may cause rare, hereditary disorde

107 These single-gene disorders provide insight, indeed direct gen

108 turation are largely unclear, but studies of single-gene disorders resulting in craniofacial malforma

109 hies are discussed as prototypic examples of single-gene disorders, including their genetics, clinica

110 Like other single-gene disorders, muscular dystrophy displays a ran

111 with large effect sizes are responsible for single-gene disorders, whereas complex polygenic disease

112 pies for human cleft palates that arise from single-gene disorders.

113 ls as opposed to biopharmaceuticals to treat single-gene disorders.

114 ese results support the feasibility of using single-gene disruption data to design and construct viab

115 Gene isoforms allow a single gene diverse functions across different cell type

116 nteractions have been studied via culturing, single-gene diversity and metagenomic read survey method

117 ologists have mostly relied on culturing and single-gene diversity surveys to understand Archaea in n

118 We report that a single gene, doublesex (dsx), controls mimicry across mu

119 However, single gene-driven recombinase lines mark relatively bro

120 is study calls for revisiting the prevailing single-gene driver-oncogene view and links clinical outc

121 We quantify whole genome duplications and single gene duplications as sources of TF family expansi

122 polyploid genome, specifically the impact of single gene duplications.

123 3-targeted RNPs, could not be reached with a single gene-editing approach.

124 environment when possible; and moving beyond single-gene effects to assess polygenic sensitivity scor

125 In humans, single genes encode enzymes for its attachment (O-GlcNAc

126 ) arise from the alternative splicing of its single gene-encoded pre-mRNA transcript.

127 nts, we found that in Arabidopsis thaliana a single gene encodes two HMGL isoforms differing in size

128 ma genes, but no canonical Galpha Instead, a single gene encoding an extra-large Galpha (XLG) protein

129 caused by transcriptional upregulation of a single gene, encoding the multidrug resistance pump ABCB

130 The overall estimated annual incidence of single-gene epilepsies in this well-defined population w

131 e and phenotypic spectrum of the most common single-gene epilepsies in young children, and to calcula

132 Identifying the more common single-gene epilepsies will aid in targeting resources,

133 PRRT2 was the most common single-gene epilepsy with an incidence of 1 per 9970 liv

134 identified in genome-wide analyses impact a single gene, eQTL that impact many genes are particularl

135 ntial genes; and that predictive ability for single-gene essentiality did not correlate well with pre

136 e research groups in model development; that single-gene essentiality predictions were affected by si

137 ng allows expression of mRNA isoforms from a single gene, expanding the diversity of the proteome.

138 tiple sites of alternative splicing within a single gene exponentially increase the number of possibl

139 for a variety of human studies ranging from single gene expression analysis to large-scale genomic/t

140 Prior studies report single gene expression can represent individual immune c

141 cancer, however recent studies have applied single gene expression signatures to classify bladder ca

142 We explore single-gene expression dynamics, in which nonequilibrium

143 trichilemmal cysts is one of the most common single gene familial diseases in humans.

144 We identified a single gene family with dramatic expansion in all sequen

145 Single-gene FISH indicated no major chromosomal rearrang

146 y RNA interference (RNAi) suppression of the single gene for GlcCer synthase (GCS, At2g19880), the en

147 We generated knockout lines of the single gene for the mitochondrial CLP protease subunit,

148 ls to reach a better understanding of either single gene function or metabolic pathway structure and

149 ouse models to (1) strengthen conclusions of single-gene function; (2) model diversity among human po

150 ows a clear pathogenic mechanism, in which a single gene gives rise to a single prion protein (PrP) c

151 e splicing is a common phenomenon in which a single gene gives rise to multiple transcript isoforms.

152 meability in wild soybean is controlled by a single gene, GmHs1-1, which encodes a calcineurin-like m

153 splicing generates multiple isoforms from a single gene, greatly increasing the functional diversity

154 We find that a single gene, Hairy (H), which is needed to repress trich

155 However, no single gene has been linked to a significant percentage

156 l evidence showing that differentiation of a single gene has contributed to the evolution of divergen

157 on from the 3' LTR regulates expression of a single gene, hbz, while sense transcription from the 5'

158 ed multi-step screening, identification of a single gene, homeobox B5 (Hoxb5, also known as Hox-2.1),

159 , which lacks a nervous system but possesses single gene homologues for Ca(V)1-Ca(V)3 channels.

160 etic reprogramming mediated by deletion of a single gene improves mammalian regeneration and suggests

161 actate dehydrogenase (d-LDH) is encoded by a single gene in Arabidopsis (Arabidopsis thaliana; At5g06

162 Here, we report a system from a single gene in barley employing two alternative promoter

163 Mutation of a single gene in Drosophila, Brain Tumor (Brat), leads to

164 olecules that can target the expression of a single gene in human cells and tissues.

165 d in all eukaryotes and have expanded from a single gene in lower eukaryotes to ~40 genes in humans a

166 lack of efficacy associated with targeting a single gene in polygenic diseases.

167 ry logic we show that rational mutation of a single gene in the biosynthetic gene cluster encoding an

168 Our observation that loss of a single gene in the thalamus of an adult wild-type animal

169 e impact of noncoding genetic alterations on single genes in cancer.

170 e3 and H2A.Z in repression and activation of single genes in plants are well known.

171 dhood TB, as illustrated by the discovery of single-gene inborn errors of IFN-gamma immunity underlyi

172 o show that severe influenza may result from single-gene inborn errors of immunity.

173 proof-of-principle that FVH can be caused by single-gene inborn errors that selectively disrupt liver

174 Recent single-gene investigations revealed that halotolerant mi

175 Understanding how a single gene is chosen for activation is critical for und

176 production of multiple mRNA isoforms from a single gene is controlled by serine/arginine-rich splici

177 oblastoma, yet the biological effect of each single gene is generally modest, and therapeutically neg

178 This is particularly true when mutation of a single gene is inadequate as a predictor of drug respons

179 mbined, our results show that knockdown of a single gene is sufficient for the middorsal head to acqu

180 ool, GEO2R, for data analysis, evaluation of single genes is not straightforward and survival analysi

181 ine genes that generate lethal phenotypes in single gene knockout experiments as essential genes.

182 Single-gene knockout experiments can fail to reveal func

183 etic contribution to its etiology, including single-gene knockout mice associated with diaphragmatic

184 In sum, our results show that single-gene knockout studies of a progenitor virus can h

185 Using data from five single gene knockouts and the wild type strain, we decre

186 reen the Keio collection, a set of nonlethal single-gene knockouts in E. coli BW25113.

187 genome browsers, allow such comparison at a single gene level, they do not provide a genome-wide vie

188 transcriptome between the two groups on the single-gene level, weighted gene coexpression network an

189 Besides, in comparison with the single gene-level analysis, our method could identify mo

190 ncing clinical phenotypes was limited to the single gene linked to the co-localized SNP.

191 es, such approaches are typically limited to single gene lists resulting from simple two-group compar

192 primarily by increased transcription from a single gene located on chromosome 7.

193 nal modeling to ask how the association of a single gene locus with the nuclear envelope influences t

194 Here, we review four "single-gene lysis" or Sgl proteins.

195 nology by making numerous modifications to a single gene, making changes to two genes at the same tim

196 also confirm that the expression level of a single gene may be used to represent a single IHC immune

197 combine large numbers of genes outperformed single gene methods consistently and with a significant

198 um disorder, mainly caused by mutations of a single gene methyl CpG binding protein 2 (MeCP2) on the

199 ults suggest that a considerable fraction of single-gene ML trees may be irreproducible.

200 This occurs by phase variation of a single gene (modA) that encodes a DNA methyltransferase

201 nsequences of natural allelic variation in a single gene (MPK12) that influences WUE in Arabidopsis,

202 We find that variation in a single gene, MPK4, is responsible for population overyie

203 mydomonas, which control the expression of a single gene, MTHI1 targets two distinct transcripts: it

204 ients with neurofibromatosis type 1 (NF1), a single-gene multifaceted disorder with comparatively hig

205 nsfer efficiently produced multiple lines of single-gene mutant (SGM) founders.

206 ry systems because of the lack of comparable single gene mutation models.SIGNIFICANCE STATEMENT All s

207 DYT1 dystonia, a motor disorder caused by a single gene mutation, demonstrate increased long-term po

208 he most common genetic disorders caused by a single gene mutation.

209 However, most murine models based on single gene mutations fail to recapitulate the CMML phen

210 enerative disorder caused by fully penetrant single gene mutations in a minority of cases, while the

211 Single gene mutations in at least 50 genes have been pro

212 ecently, hereditary diseases associated with single gene mutations in the Kennedy pathways have been

213 Neonatal diabetes is caused by single gene mutations reducing pancreatic beta cell numb

214 These data suggest that single gene mutations that cause neurological diseases s

215 a minority of CHD cases can be attributed to single gene mutations.

216 ltered redox state using drug strategies and single-gene mutations in isocitrate dehydrogenases (IDH1

217 Single-gene mutations in patients can help define geneti

218 on is controlled by genetics as shown by the single-gene mutations that confer extreme early or late

219 an early symptomatic onset and is caused by single-gene mutations that result in overproduction of b

220 nts have been described, many of which carry single-gene mutations within the growth-hormone, insulin

221 han 12,000 Drosophila lines, we identified a single gene, nemuri, that induces sleep.

222 y networks, and compare their performance to single gene network approaches.

223 required for diagnostic purposes, such as in single gene non-invasive prenatal testing (sgNIPT) and l

224 t a given type of epigenetic remodeling to a single gene of interest, and to probe the functional rel

225 flexibility results from the fact that every single gene of the GRN possesses its own functional time

226 Rare CNVs affecting a single gene offer a potential avenue to discovering schi

227 insights into the potential role of SHELL in single-gene oil yield heterosis.

228 inct patient subgroups, generally by testing single genes one at a time.

229 tionship between the clinical response and a single gene or a gene set is not significant, we may ben

230 No highly recurrent single gene or pathway level mutations associated with i

231 functionally relevant biomarkers based on a single gene or protein.

232 improve patient classification by including single genes or groups of genes in classification models

233 n had nondiagnostic microarrays and no prior single-gene or panel sequencing.

234 ver 25 countries identify and annotate 2,460 single-gene perturbation signatures, 839 disease versus

235 Transporter genes often encode single-gene phenotypes and tend to have low protein-prot

236 ns are more predictive of drug response than single gene predictors.

237 Through alternative back-splicing (ABS), a single gene produces multiple circRNAs sharing the same

238 es a novel synaptogenic mechanism in which a single gene product coordinates the nuclear transcriptio

239 enes interwoven into networks, rather than a single gene product.

240 xes of many Archaea form homohexamers from a single gene product.

241 Single-gene quantitative real-time PCR, immunoblot, and

242 zation of the melanoma regulatory locus to a single gene, rab3d, which shows all expected features of

243 Remarkably, expression of a single gene, Rap guanine nucleotide exchange factor 3 (R

244 , and this growth pattern is controlled by a single gene, rbmA Competition analyses reveal that the d

245 a complex migratory phenotype results from a single gene region will facilitate conservation and rest

246 bolomes of 174 yeast strains, each lacking a single gene related to mitochondrial biology.

247 led a pool of 92 mutants, each deleted for a single gene, representing nearly all genes in nine regio

248 This study provides an in vivo example of single-gene reprogramming of cell sexual identity.

249 ts (tRNA-Seq) can estimate tRNA abundance at single gene resolution, but tRNA structures and posttran

250 ently identified IA2, GABA-B-R3, and lola as single genes responsible for rough eye enhancement.

251 Single-gene RT-qPCR, immunoblot, and immunofluorescence

252 onnectivity; however, the causal impact of a single gene's activity on whole-brain networks remains u

253 Using single-gene SCNA pathway analysis, we observed that both

254 s generated for all variants observed into a single gene score for each individual.

255 V(D)J genomic recombination joins single gene segments to encode an extensive repertoire o

256 The single gene, single protein, single function hypothesis

257 static dissemination, and demonstrate that a single gene (Slit2) can promote or suppress cancer progr

258 We found that deletions in a single gene, spalt, are sufficient to reduce or complete

259 No single gene surpassed exome-wide significance; however,

260 vident from epidemiological data or standard single-gene surveillance efforts and also revealed conne

261 ed genetic test with targeted mutation test, single-gene test, or multigene panel for Noonan syndrome

262 oid malignancies to highlight the utility of single gene testing and/or larger panels.

263 tegy that might overcome the shortcomings of single gene testing in colorectal cancer as well as in o

264 led cost analysis of the panel compared with single gene testing was undertaken to assess affordabili

265 cs, rather than an affordable alternative to single gene testing.

266 Genetic screening used a combination of single-gene testing, gene panel testing, whole exome seq

267 Single gene tests to predict whether cancers respond to

268 cally than performing more than two or three single gene tests.

269 icing (AS) generates protein variants from a single gene that can create novel regulatory opportuniti

270 Unfortunately, no single gene that can improve yield/productivity along wi

271 operative non-cell-autonomous functions of a single gene that together provide a novel mechanism of t

272 OGT is encoded by a single gene that yields nucleocytosolic and mitochondria

273 tudies have discovered germline mutations in single genes that instigate familial MDS/AML.

274 ting the expression of the long isoform of a single gene, the cytoskeleton protein Ankyrin.

275 When targeting a single gene, the lipoMSN achieved a 54% gene-editing eff

276 an erythroid cells directly activates only a single gene, the NuRD component CHD4.

277 e clinical approval pipeline, there is not a single gene therapy approach that has worked for the hea

278 s production of more than one protein from a single gene, thereby expanding the cellular proteome.

279 d ORF012 are not individual genes but form a single gene through mRNA splicing of a small intron, res

280 to ascertain the relative contribution of a single gene to a disease by systematic manipulation (e.g

281 It enables a single gene to encode multiple isoforms with distinct bi

282 transcription start- or stop sites allows a single gene to produce multiple transcript isoforms.

283 f vasculature development, from the scale of single genes to networks.

284 andidates for hard landscapes at scales from single genes, to microbes, to complex organisms with cos

285 nto adulthood, is the most strongly selected single gene trait over the last 10,000 years in multiple

286 al gene duplication and, to a lesser extent, single gene transposition as having played roles in the

287 tion of a curated whole-genome collection of single-gene transposon disruption mutants termed Knockou

288 a multigene supertree method based on 3,242 single gene trees, and then rooted this tree using a rec

289 n AF and rare LOF variants was observed in a single gene, TTN (odds ratio, 2.71, P=2.50x10(-8)).

290 inged (V. cyanoptera) warblers to identify a single gene-vacuolar protein sorting 13A (VPS13A)-that i

291 eases (IBDs) have subtypes associated with a single gene variant (monogenic IBD).

292 of the microduplications occurring within a single gene: vasoactive intestinal peptide receptor 2 (V

293 n syndrome caused by a loss or mutation in a single gene,VHL, but it exhibits a wide phenotypic varia

294 In five loci, only a single gene was involved: FURIN, TSNARE1, CNTN4, CLCN3 o

295 tuition: rather than single SNPs influencing single genes, we see groups of SNPs associated with the

296 understood how noise strength changes for a single gene while the host cell is aging.

297 iques summarize constraint for entire genes, single gene-wide metrics conceal regional constraint var

298 esting that the same genetic region-either a single gene with pleiotropic effects or linked genes-inf

299 herent challenges in specifically altering a single gene within a multigene family.

300 s are attributed to pathogenic variants in a single gene, Wolfram syndrome 1 (WFS1).