ライフサイエンスコーパス: single gene

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

2 chromosomal abnormalities or mutations in a single gene.

3 cell growth and clonogenicity compared to a single gene.

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

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

6 ent loci of functions initially carried by a single gene.

7 oluble GP (sGP) and structural GP1,2, from a single gene.

8 onally distinct photopigments arising from a single gene.

9 ity by chromatin remodeling that occurs at a single gene.

10 creation of multiple RNA transcripts from a single gene.

11 g silica structure through manipulation of a single gene.

12 ve a role in restricting VSG expression to a single gene.

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

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

15 76 events of joining of adjacent genes as a single gene.

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

17 lease and methyltransferase are encoded by a single gene.

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

19 d Pol III (a.k.a. Pol C) and are encoded by single genes.

20 related genes (e.g., in operons), and within single genes.

21 genome after its beginning with analyses of single genes.

22 mechanisms to create multiple functions from single genes.

23 levels of transcription and translation for single genes.

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

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

26 and experiment-specific BLAST searches for a single gene, a list of genes, annotated or unannotated g

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

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

29 requires that we systematically decipher how single genes affect multiple biological processes and ho

30 ng/founder (R/F) variants were determined by single-gene amplification and sequencing of viral RNA or

31 us work that examined the fitness effects of single-gene amplifications genome-wide, we found that a

32 ations is much broader than that explored by single-gene amplifications.

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

34 tation signatures can be overall superior to single gene and gene expression based signatures in enab

35 ication of most parsimonious combinations of single gene and single chromosome events.

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

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

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

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

40 Contrary to single-gene and morphological analyses, genome-scale phy

41 Single-gene and whole-genome duplications are important

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

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

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

45 The single-gene approach impacted minimally on plant growth

46 t resolve relationships among organisms from single genes are often unreliable because of the frequen

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

48 Variation results for single genes as well as the entire study are available f

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

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

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

52 s was observed, but there was no significant single-gene association after genome-wide correction.

53 = 1.8-2.7) and revealed a highly significant single-gene association with COL11A2 (P = 6 x 10(-9), OR

54 genes yet have been ignored by conventional single-gene-based approaches.

55 ly Drosophila, head formation is driven by a single gene, bicoid, which generates head-to-tail polari

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

57 it synthetic lethal interactions between two single genes but also consider alterations in DNA repair

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

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

60 r the identity of supergenes, showing that a single gene can switch the entire wing pattern among mim

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

62 However, the frequency of single-gene causation and its age distribution in large

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

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

65 The fraction of families in whom a single-gene cause was identified inversely correlated wi

66 sease mechanisms came from identification of single-gene causes of SRNS.

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

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

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

70 All five enzymes are encoded in a single gene cluster that includes, for example, genes fo

71 We show that the duplication of a single gene coding for a high-affinity kainate receptor

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

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

74 We describe here the discovery of a single gene conserved in Pseudomonas responsible for 1-u

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

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

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

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

79 ed enzyme family is usually represented by a single gene copy.

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

81 hlights a growing appreciation of the hidden single gene defects affecting T-cells within the group o

82 .6%) had blended phenotypes resulting from 2 single gene defects.

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

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 Analogous single-gene deletion mutations of these genes showed sig

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

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

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

90 causes have been identified, the fraction of single-gene disease has not been well studied.

91 They have been shown to be a cause of single-gene diseases.

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

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

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

95 AS is a single gene disorder, caused by the loss of function of

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

97 Angelman syndrome is a single-gene disorder characterized by intellectual disab

98 Single gene disorders of the autophagy pathway are an em

99 Several single gene disorders share clinical and radiologic char

100 Here we review single gene disorders that have the potential to mimic m

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

102 r preimplantation genetic diagnosis (PGD) of single-gene disorders (SGD), this approach can be hamper

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

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

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

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

107 Single-gene disorders may cause rare, hereditary disorde

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

109 s have been extensively utilized in studying single-gene disorders, where the founder effect has clea

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

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

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

113 S cases represent a large collection of rare single-gene disorders.

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

115 and gene expression analyses, we show that a single gene, doublesex, controls supergene mimicry in Pa

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

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

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

119 Our results highlight the major impact of single gene duplications on the wheat gene complement an

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

121 on studies (GWAS) have indicated that strong single-gene effects are the exception, not the rule, for

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

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

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

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

126 Here we show that the acquisition of a single gene encoding the protease Pla was sufficient for

127 ic inflammation and are caused by defects in single genes encoding proteins that regulate innate infl

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

129 include copy number changes at the scale of single genes, entire chromosomes, and the whole genome.

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

131 failure modes were incorrect computation of single gene essentiality and biological information that

132 nnotated metabolites, predictive ability for single gene essentiality with a selection of model param

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

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

135 he potential to accelerate the pace at which single genes evolve and to confound studies of demograph

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

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

138 oach outperforms traditional models based on single gene expression data sources".

139 t appears that rare and common variants in a single gene--FBN2--can contribute to Mendelian and compl

140 Single-gene FISH indicated no major chromosomal rearrang

141 e fungus Phycomyces blakesleeanus contains a single gene for a protein of the cryptochrome/photolyase

142 A single gene for arsenate tolerance led to distinct pheno

143 Most metazoans possess a single gene for beta-catenin, which is also a transcript

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

145 nced polymorphism, under the regulation of a single gene, for phosphate fertilizer responsiveness/ars

146 cause fragile X syndrome (FXS), the leading single-gene form of intellectual disability and of autis

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

148 there are cases where they all arise from a single gene function.

149 Independent analyses, including single-gene, gene-interconnectivity, protein-protein int

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

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

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

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

154 date, multiple genes have been implicated in single-gene hereditary cancer syndromes, many of which a

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

156 en targeted and defined by the expression of single genes important for aspects of dopamine neurotran

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

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

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

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

161 t (cKO) mouse, we show that deletion of this single gene in forebrain neurons leads to a multisyndrom

162 It is coded by a single gene in humans and most other mammalian species.

163 his molecule, and a genetic knockout of this single gene in otherwise nonregenerating strains led to

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

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

166 an also be attributed to the alteration of a single gene in vitro.

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

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

169 The ability to incriminate single-gene inborn errors in immunodeficient patients re

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

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

172 nd even young adults have been attributed to single-gene inborn errors of immunity.

173 efficiently translate gene-sets (rather than single genes) into biological discoveries about AML and

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

178 genes is lethal while the inhibition of each single gene is not.

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 on of multiple messenger RNA isoforms from a single gene--is regulated in part by RNA binding protein

182 subtle forebrain-specific expression through single gene knock-in of hBACE1 is sufficient to generate

183 and by the development of Synechocystis sp. single-gene knock-out mutants.

184 Single-gene knockout experiments can fail to reveal func

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

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

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

188 io collection of all viable Escherichia coli single-gene knockouts is facilitating a systematic inves

189 studies, from high-throughput phenotyping of single-gene knockouts under hundreds of annotated condit

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

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

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

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

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

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

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

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

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

199 l observations on the chromatin structure of single gene molecules, a molecular biologist's path towa

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

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

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

203 While loss-of-function alleles are viable as single gene mutants, the double mutants were not recover

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

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

206 ctual disability and autism resulting from a single gene mutation.

207 d study colorectal cancer in the mouse via a single gene mutation.

208 rse collection of copy number variations and single gene mutations associated with callosal agenesis.

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

213 genetics evolved from Mendelian inheritance (single gene mutations) to include Complex Human Diseases

214 s in DNA methylation levels than provided by single gene mutations, we performed crosses to create do

215 l biological processes that are perturbed by single-gene mutations in primary immune deficiency.

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

217 tereotypic syndromes, have revealed numerous single-gene mutations that cause CHD.

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

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

220 To compare the clinical diagnostic yields of single gene (NMD-associated) tests with the various NMD

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

222 Single genes of interest included I-kappa-B kinase-alpha

223 itions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how

224 ve three ATPase domains, encoded either by a single gene or by two operonic genes.

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

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

227 on of naturally occurring viral diversity in single gene- or morphology-based studies and an inabilit

228 f were sought by use of deletion viruses and single gene overexpression.

229 s that overcomes the limitations of existing single-gene, pathway and network approaches.

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

231 in a changing environment and the effects of single gene perturbations.

232 ith novel autosomal recessive mutations in a single gene, phosphoglucomutase 3 (PGM3).

233 standing eukaryote-specific gene inventions, single-gene phylogenies have never traced eukaryotic gen

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

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

236 and (ii) the specific overtranscription of a single gene product, Cyp6g1, associated with the metabol

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

238 ional complexity otherwise inaccessible to a single gene product.

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

240 sufficient quantities of embryos depleted of single gene products for proteomics.

241 lic machinery of insects by directly linking single gene products to insecticide metabolism.

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

243 From studies with single-gene reassortant viruses bearing one gene segment

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

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

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

247 tion results frequently identified hits with single-gene resolution.

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

249 w clinical genetic analysis is moving from a single-gene Sanger-sequencing approach to targeted next-

250 methylation patterns that extend beyond the single-gene scale.

251 Single gene segments can contribute to multiple, distinc

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

253 uantitatively examine how perturbations of a single gene shape subsequent evolution of the cancer gen

254 rt actions of genetic modifiers may confound single-gene solutions for the clinical disorder.

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

256 that is fast-acting, is tunable and achieves single-gene specificity was recently developed for yeast

257 Complementary single gene studies provided insight into the mechanisms

258 Complementary to candidate single-gene studies, these innovative technologies may e

259 degenerative disease caused by the loss of a single gene, Survival Motor Neuron-1 (SMN1).

260 a 3-fold greater diagnostic yield (46%) than single gene testing (15-19%).

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

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

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

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

265 Single gene tests to predict whether cancers respond to

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

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

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

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

270 en resolved to evolutionary changes within a single gene, the evolutionary path by which genes derive

271 tial target genes, abundance with respect to single genes, the frequent presence of a consensus TGTGG

272 in the circulation for up to a year after a single gene therapy treatment, indicating prolonged cell

273 and blue-sensing phototropin modules into a single gene, thereby optimizing phototropic responses.

274 ear genome can influence the expression of a single gene through chromatin looping.

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

276 gaster and other insects appear to contain a single gene, Tis11.

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

278 KIGV-like sequences ranging from single genes to full genomes are present in transcriptom

279 s investigations transition from analyses of single genes to genomes.

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

281 resolution, chromosomes as spot clusters and single genes together with transcripts by combining HD-F

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

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

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

285 In the age of genomes, single-gene trees, once used to test the predictions of

286 and whose existence is inferred solely from single-gene trees.

287 Only a single gene, TREML4, was upregulated in CAC cases in bot

288 nd detect trait-associated variants within a single gene under a QTL peak.

289 HAVANA) update track every 2 weeks, allowing single gene updates to be made publicly available to the

290 ty mapping and exome sequencing identified a single gene variant that segregated as expected and was

291 The consequential shift in focus from single-gene variants towards large gene panels, exomes,

292 Together, these data indicate that a single gene variation in the glutamatergic system result

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 e primarily based on mutation frequencies of single-genes, which lack the power to detect infrequentl

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

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 e (FXS) results from a genetic mutation in a single gene yet produces a phenotypically complex disord