ライフサイエンスコーパス: human gene

1 g the protein-coding regions of any mouse or human gene.

2 this inaccurately describes splicing in many human genes.

3 ns can be introduced in approximately 17,000 human genes.

4 enotypic effects of losing function for most human genes.

5 MBL-EBI) assigns unique symbols and names to human genes.

6 for each species, using the reads mapped to human genes.

7 gral to termination of transcription on most human genes.

8 t suggest the dispensability of a variety of human genes.

9 er one million tumor samples and across most human genes.

10 predictive tool to identify the function of human genes.

11 t mutant PHOX2B proteins against over 10 000 human genes.

12 en using a library that targets nearly 7,000 human genes.

13 s been detected over CpG island promoters in human genes.

14 native splicing modulates expression of most human genes.

15 lignment of reads for many coding regions of human genes.

16 MBL-EBI) assigns unique symbols and names to human genes.

17 s were used to screen siRNAs targeting 7,000 human genes.

18 mation of abundances from axolotl contigs to human genes.

19 domain to increase expression of endogenous human genes.

20 iversity of elongation rates among and along human genes.

21 d gene structures are related to orthologous human genes.

22 nstitute assigns unique symbols and names to human genes.

23 imates or transgenic rodents engineered with human genes.

24 It affects most human genes.

25 al increases in the expression of endogenous human genes.

26 nction as promoters for approximately 60% of human genes.

27 table collection of Wikipedia articles about human genes.

28 e been identified in as many as 500 distinct human genes.

29 in the promoter regions of more than 14,000 human genes.

30 a potent tool for discovery of mutations in human genes.

31 r kappa B (NFkappaB) to activate a subset of human genes.

32 nymous codon usage (SCU) varies widely among human genes.

33 anscript-specific order of intron removal in human genes.

34 integrations alter the transcription of the human genes.

35 m of genes controlling FB or BW includes 578 human genes.

36 decisions that affect the expression of most human genes.

37 roach on several non-essential and essential human genes.

38 00 000 tightly co-expressed pairs of diverse human genes.

39 RNA was analyzed using the Human Gene 1.0 ST array.

40 thout BK viremia were analyzed by Affymetrix Human Gene 1.0 ST Arrays.

41 without COPD was performed using Affymetrix Human Gene 1.0 ST Arrays.

42 ion profiles were generated using Affymetrix Human Gene 1.1 ST arrays.

43 y, and gene expression was measured with the Human Gene 2.1 ST Array.

44 Human gene-2 (H2) relaxin is currently in Phase III clin

45 The prediction of human gene-abnormal phenotype associations is a fundamen

46 ed genes contained an EER in the orthologous human gene, although nucleotide sequence and position we

47 ingle nucleotide polymorphisms (SNPs) in the human gene and AD.

48 ical process, and molecular function for the human gene and homologs in the seven model organisms are

49 rnell.edu, includes 6991 TIS sites from 4961 human genes and 9973 TIS sites from 5668 mouse genes.

50 e mRNA transcripts occur in more than 90% of human genes and are frequently observed in cells respond

51 ) DNAs corresponding to approximately 20,000 human genes and contains on average approximately 6 high

52 Many of the genes share homology to human genes and demonstrate the diverse array of cellula

53 rease in targeting space is also enriched at human genes and disease loci.

54 We hypothesized that human genes and disease-associated alleles might be syst

55 eate powerful animal models for the study of human genes and diseases.

56 llection of comprehensive GO annotations for human genes and gene products often lacks adequate devel

57 In an analysis of 38,276 human genes and loci, we identified 1676 genes that were

58 research resource of curated descriptions of human genes and phenotypes and the relationships between

59 eriments to predict the associations between human genes and phenotypes in HPO based on human protein

60 of six endogenous mouse and three endogenous human genes and quantitatively assessed their ability to

61 he scalability of our method by targeting 48 human genes and show that the resulting GFP fluorescence

62 Discovering EBV targeted human genes and signaling pathways is vital to understan

63 only requires the user to specify a list of human genes and the names of other species of interest.

64 Identification of all human genes and their regulatory regions provides the es

65 ly spliced transcripts for a large number of human genes and used protein-protein interaction profili

66 data collection and facilitates analysis of human genes and variants by cross-disciplinary integrati

67 iviral shRNA pooled library targeting 11 194 human genes, and allowed to proliferate for 5-7 weeks, a

68 ervasive mechanism in the regulation of most human genes, and its implication in diseases including c

69 eme Court ruling of the non-patentability of human genes, and the development of a regulatory framewo

70 rative analysis of gene ontology from fly or human gene annotation databases points to four significa

71 Up to 70% of human genes are associated with regions of nonmethylated

72 of diverse samples, we show that nearly 2000 human genes are commonly hypomethylated.

73 A total of 3142 human genes are described participating in 12,786 protei

74 ange of biological networks to predict which human genes are haploinsufficient (meaning two copies ar

75 Currently, two human genes are known to encode at least four glutaminas

76 For human genes (as well as a few other organisms), PANTHER

77 these RNAs could be grouped into 1542 novel human genes based on analysis of insulators that we show

78 Ranking human genes based on their tolerance to functional genet

79 Drosophila mutants in the fly homologue of a human gene, BTBD9, that has been implicated as a risk fa

80 d degrees of separation between all pairs of human genes by applying a shortest distance algorithm to

81 s) direct post-transcriptional regulation of human genes by guiding Argonaute proteins to complementa

82 nts influence the mono-allelic expression of human genes by shaping the chromatin environment of impr

83 SHV microRNA represses the expression of the human gene called breakpoint cluster region (Bcr).

84 Over 3000 human genes can be expressed from a single allele in one

85 he steady state transcript levels for <2% of human genes can disrupt development and function of esse

86 Hundreds of human genes can now be sequenced within a day using a si

87 declared, for the first time, that isolated human genes cannot be patented.

88 ct of gene essentiality: approximately 3,000 human genes cannot tolerate loss of one of the two allel

89 y, aggressive metastasis, and retention of 7 human genes (CD74, CXCR4, CD19, CD20, CD71, CD79b, and V

90 what we believe to be novel functions of the human gene CHCHD4 in this context.

91 es regulated by cis-regulatory motifs from a human gene co-expression network.

92 sed genes in Hfe(-/-) x Tfr2(mut) brain with human gene co-expression networks suggests iron loading

93 ove the association between mouse models and human genes commonly mutated in a variety of cancers as

94 IRGM, encoded by a uniquely human gene conferring risk for inflammatory diseases, af

95 We describe here the human gene connectome (HGC) as a unique approach for hum

96 Thousands of human genes contain introns ending in NAGNAG (N any nucl

97 The human gene contains a polymorphism (Val(158)Met) that al

98 The average human gene contains eight exons and seven introns, produ

99 ter paused state is a rate-limiting event in human gene control.

100 A compendium comprising 578 human genes controlling FB or BW was designed, and the m

101 Human gene copy number alteration data, microarray expre

102 mber of possible spliced isoforms, with most human genes currently estimated to express at least ten.

103 s) being developed as vectors for corrective human gene delivery have shown promise in clinical trial

104 genomic rearrangements, but our knowledge of human genes derived from transposases is limited.

105 enced individuals, we estimate that 10.8% of human genes do not tolerate heterozygous truncating vari

106 CRISPR protocol may help to create a bank of human genes, each represented by a genomic copy containi

107 The corresponding human genes encode a family of serine proteases that col

108 Mutations in the human gene encoding contactin-associated protein-like 2

109 Mutations in the human gene encoding CSP, DNAJC5, cause adult neuronal ce

110 In reported cases, the human gene encoding decorin contains point mutations in

111 Hemizygous mutations in the human gene encoding platelet-activating factor acetylhyd

112 Mutations in the human gene encoding the CaV2.1 subunit are associated wi

113 tations in either CALM1 or CALM2, 2 of the 3 human genes encoding calmodulin, in the 2 probands and i

114 la slit diaphragm proteins, orthologs of the human genes encoding nephrin and nephrin-like protein 1,

115 ) is a direct transcriptional inducer of the human genes encoding PD-L1 and PD-L2 through the vitamin

116 review provides an overview of mutations in human genes encoding these proteins that give rise to im

117 Seq) data revealed that the vast majority of human genes express multiple mRNA isoforms, produced by

118 fer an important platform for recapitulating human gene expression and disease modeling.

119 ells, this compendium of carefully generated human gene expression and epigenomic data in islet cell

120 We predict UM-associated mutations alter human gene expression by increasing discrimination again

121 Comparisons with primary mouse and human gene expression data demonstrated rostral and caud

122 In analyses of several human gene expression datasets from the Genotype Tissues

123 tes predominate, enabling diversification of human gene expression during biological processes like m

124 approximately 4300 microarrays, representing human gene expression in normal tissues, cancer cell lin

125 will answer fundamental questions regarding human gene expression in the developing kidney, essentia

126 HIV-1 replication resulting when individual human gene expression is blocked using siRNA.

127 Human gene expression levels in humanized mouse livers w

128 ons between polymorphic TE (polyTE) loci and human gene expression levels using an expression quantit

129 Expression Omnibus and EBI ArrayExpress for human gene expression microarray datasets.

130 ene expression profiles were generated using human gene expression microarrays and compared between a

131 our understanding of the biology that drives human gene expression variation, and of the putatively c

132 gulatory interactions contribute strongly to human gene expression, which calls into question the rel

133 sh a new paradigm for TFIIB functionality in human gene expression, which when downregulated has pote

134 the topography and regulatory complexity of human gene expression.

135 itical and prevalent regulatory mechanism in human gene expression.

136 paralog count, which is further confirmed by human gene-expression patterns across different tissues.

137 by a functional polymorphism (rs6265) in the human gene for brain derived neurotrophic factor (BDNF).

138 openia, which occurs due to mutations in the human gene for cytochrome c that results in enhanced mit

139 ' flanking sequence with the sequence of the human gene for homologous functional regulatory elements

140 survival of SOD1G37R mice that expressed the human gene for the Cu uptake protein CTR1.

141 Single nucleotide polymorphisms in the human gene for the receptor for advanced glycation end-p

142 egradable protein polymers inspired from the human gene for tropoelastin.

143 quires only a couple of hours to process all human genes for structured motif extraction on 1056 proc

144 Lesions in the epithelially expressed human gene FRAS1 cause Fraser syndrome, a complex diseas

145 otide variants (nsSNVs) in coding regions of human genes frequently lead to pathological phenotypes.

146 ave inferred functional associations between human genes from diverse data types and assessed them wi

147 In profiling of human genes from the same sputa, HIV-infected patients h

148 of the postgenomic era is to understand how human genes function together in normal and disease stat

149 For every human gene, GEneSTATION contains diverse evolutionary (e

150 Human genes governing innate immunity provide a valuable

151 We have previously identified two human genes, GXYLT1 and GXYLT2, encoding glucoside xylos

152 Yet, because thousands of human genes harbor processed micro-exons, specialized me

153 We also found that human genes harboring conserved editing sites within Alu

154 rence genome shows that approximately 70% of human genes have at least one obvious zebrafish ortholog

155 edicted to result in the loss of function of human genes have attracted interest because of their cli

156 Crisp et al. recently reported that 145 human genes have been horizontally transferred from dist

157 s.Variants causing loss of function (LoF) of human genes have clinical implications.

158 ions between microbes or microbial genes and human genes have emerged that are consistent between hum

159 ntly display a concise summary regarding the human gene homologs in budding and fission yeast, worm,

160 tion interactions described for each of 1250 human genes identified using small interfering RNA (siRN

161 two siRNA sets were designed to target three human genes IDH1, ITPR2 and TRIM28.

162 d FLASH to assemble TALENs for 96 endogenous human genes implicated in cancer and/or epigenetic regul

163 e detection of several new human SEPs (novel human genes), improved confidence in the SEP assignments

164 ics identified the ERSE-26 motif in 37 other human genes in the absence of canonical ERSE sites excep

165 areas, including the phenotypic screening of human genes in transgenic mice by study of embryos under

166 003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary arter

167 updated human MitoCarta2.0 consists of 1158 human genes, including 918 genes in the original invento

168 Natural selection shapes many human genes, including some related to complex diseases.

169 sential for transcription elongation of many human genes, including the integrated HIV-1 genome.

170 n levels for 99% of all abundantly expressed human genes, indicating global gene dosage sensitivity.

171 ed, scalable strategy for inferring multiple human gene interaction types that takes advantage of dat

172 Together the data identifies 4006 human genes involved in 14,102 interactions.

173 ciation studies reveal that variants in many human genes involved in immunity and gut architecture ar

174 ism differ significantly, for example when a human gene is expressed in E. coli.

175 showed evidence that a functionally relevant human gene is transcriptionally regulated by HNF4alpha v

176 The mutagenicity at such sites in many human genes is associated with loss of function of key p

177 have established that the expression of most human genes is regulated by noncoding genetic variations

178 howed that transient expression of these two human genes is sufficient to allow viral uptake into ful

179 e spread of silencing to flanking endogenous human genes is variable in extent of silencing as well a

180 Mutations in the equivalent human gene, Kif5A, result in similar problems that cause

181 yte functions, suggesting that a majority of human genes known to be associated with NS play conserve

182 Mutations in the human gene LGI1, encoding a neuronal secreted protein, c

183 certain point mutations in the NEMO (IKBKG) human gene manifest skeletal defects implicating NEMO in

184 Thus, human genes may influence health directly or by promotin

185 drpr is the sole Drosophila homolog of the human genes MEGF10, MEGF11, and MEGF12 (JEDI, PEAR).

186 mine the Drosophila ortholog of spartin, the human gene mutated in a form of hereditary spastic parap

187 , we collate disease-causing INDELs from the Human Gene Mutation Database (HGMD) and neutral INDELs f

188 so carried 40-110 variants classified by the Human Gene Mutation Database (HGMD) as disease-causing m

189 ts were identified as disease causing in the Human Gene Mutation Database (HGMD).

190 ed on real human genetic variations from the Human Gene Mutation Database (inherited disease-causing)

191 using single nucleotide variants (SNVs) from Human Gene Mutation Database and 10 002 putatively 'beni

192 omprehensive reviews and in 2 databases: The Human Gene Mutation Database and The Inherited Arrhythmi

193 ing the human disease mutations annotated in human gene mutation database as the training dataset for

194 large set of human variants derived from the Human Gene Mutation Database, ClinVar and the Exome Aggr

195 on a larger collection of mutations from the Human Gene Mutation Database, MAPPIN is able to signific

196 tween filtering criteria and the ClinVar and Human Gene Mutation databases.

197 Human gene mutations have revealed that a significant nu

198 mhcl as functional zebrafish orthologues for human genes MYH6 and MYH7, respectively, which are estab

199 We ranked all known human genes (n=3819) under linkage peaks in the Irish St

200 eq) and show that LANA predominantly targets human genes near their transcriptional start sites (TSSs

201 of model organism genes onto a genome-scale human gene network.

202 ng a shortest distance algorithm to the full human gene network.

203 Unexpectedly, for the human gene, NFkappaB exhibited cooperativity in activati

204 as been largely overlooked, even if for most human genes no HPO term associations are known and despi

205 r dystrophy 1D/1E (OMIM nomenclature LGMD1D, Human Gene Nomenclature Committee LGMD1E), a skeletal an

206 The human gene of interest, GJB1, which is mutated in X-link

207 .org enables assessing the regulation of any human gene of interest.

208 50 kilobases of 3' UTR sequences from >2,000 human genes on steady-state mRNA abundance, mRNA stabili

209 inally, we identify four recursively spliced human genes, one of which is also recursively spliced in

210 also the most likely interaction type among human genes or its protein products on a whole-genome sc

211 nations to increase expression of endogenous human genes over wide dynamic ranges.

212 e a lower LGD load than typical genes in the human gene pool.

213 Analysis of TCGA data using the human genes predicted to act in GIS pathways revealed th

214 put sequencing studies indicate that 100% of human genes produce at least two alternative mRNA isofor

215 rom coordinated interactions between diverse human gene products functioning within various pathways

216 siRNA-mediated knockdown of 7343 human gene products in a human colonic cancer goblet cel

217 tides representing essentially all canonical human gene products, and we exemplify the utility of the

218 G-quadruplex DNA, as in that associated with human gene promoter or telomere regions, is represented

219 ands (CGIs) are associated with over half of human gene promoters and are characterized by a unique c

220 d NFR4 elements are highly conserved in many human gene promoters.

221 act as silencers in the promoter regions of human genes; putative G-quadruplex forming sequences are

222 c variation, the X Chromosome, and sex shape human gene regulation and disease.

223 regulatory modules (CRMs) gives insight into human gene regulation, we determined transcription facto

224 ms linking genetic variation to variation in human gene regulation.

225 cilitating the reconstruction of most of the human gene regulatory network.

226 een multicellular and unicellular regions of human gene regulatory networks activate primitive transc

227 Our experiments on human gene regulatory networks suggest that our method m

228 asize the use of epigenome maps to delineate human gene regulatory sequences and developmental progra

229 Identifying human genes relevant for the processing of pain requires

230 ucleases guided by bacterial RNA can disrupt human genes represents a landmark in the rapidly develop

231 We used a new approach to search for human genes repressed by small nucleic acids (microRNAs)

232 To demonstrate its performance, we predicted human genes required for a poorly understood cellular fu

233 The human gene RSC1A1 codes for a 67-kDa protein named RS1 t

234 Two human genes, SERINC3 and SERINC5, were recently identifi

235 Cytoscape 3.x plugin performing integrative human gene set analysis.

236 ranscription data from 26 stimuli to predict human gene set and pathway activity under the same pertu

237 egenerating axolotl limb with respect to the human gene set.

238 phenomenon and then derived Arabidopsis and human gene-sharing networks, in which tissues are connec

239 135 known viral miRNAs in human viruses, the human genes targeted by the viral miRNA are enriched for

240 matched base pair can significantly decrease human gene targeting frequencies.

241 to assay 4783 human proteins (4137 distinct human gene targets) to derivation and validation cohorts

242 our ancestors 100 million years ago became a human gene that is expressed in embryos and cancers, and

243 IL12RB1 is a human gene that is important for resistance to Mycobacte

244 ollection of TALEN constructs to knockout 88 human genes that are associated with cardiomyopathies an

245 on in humans, as well as an inventory of the human genes that are not essential for survival and repr

246 is further applied to infer a network of 39 human genes that are related to the immune function and

247 d analyses of mutations and polymorphisms in human genes that encode these products have provided ess

248 n in a model microorganism has identified 75 human genes that may play key roles in neutral lipid met

249 eAlign also detects a novel set of conserved human genes that pathogens preferentially target to caus

250 criteria, and identified 2035 mouse and 1847 human genes that utilize substantially distal novel 3' U

251 A total of 69.1% of known human genes that we detected have multiple polyA sites i

252 We analyzed three human genes that were >200 kbp in length as they are swi

253 that can repress the expression of specific human genes, the biological functions of which are still

254 r way to evaluate the safety and efficacy of human gene therapies.

255 use of vectors encoding the E4-ORF1 gene in human gene therapy and vaccination.

256 in infected cells.IMPORTANCE The majority of human gene therapy approaches utilize HIV-1- or murine l

257 As thymidine kinase is widely used in human gene therapy trials and is the therapeutic target

258 gene delivery vectors are in development for human gene therapy, but both exhibit disadvantages such

259 vectors are already used for liver-directed human gene therapy, our strategy has potential for clini

260 Although there are promising results in human gene therapy, RP is a genetically diverse disorder

261 stem holds great promise for applications in human gene therapy.

262 including basic research, biotechnology, and human gene therapy.

263 potential use of these novel AAV vectors in human gene therapy.

264 also for the optimal use of these vectors in human gene therapy.

265 afety profile of gammaretroviral vectors for human gene therapy.

266 s has demonstrated outstanding potential for human gene therapy.

267 te to developing safer MLV-based vectors for human gene therapy.

268 development of ALV-based vectors for use in human gene therapy.

269 in to evade NAbs in prospective patients for human gene therapy.

270 ted viruses (AAVs) are promising vectors for human gene therapy.

271 by the development of MLV-based vectors for human gene-therapy.

272 g retroviral vectors attractive vehicles for human gene-therapy.

273 Dating the evolutionary emergence of human genes through phylostratigraphy uncovered close as

274 ulation factor proteins were among the first human genes to be characterized over 25 years ago.

275 on sequence-based orthology between rat and human genes to translate pathway perturbation state but

276 shRNA library targeting approximately 20,000 human genes, together with an ER stress cell model, we p

277 In several human genes, TR copy number mutations that expand polygl

278 st immunity by comparing M. tuberculosis and human gene transcription in sputum between human immunod

279 als of the major class of 3' splice sites in human gene transcripts remains incompletely understood.

280 We also identified a set of 56 human gene transcripts that were uniquely methylated in

281 ved from exome sequencing data, we show that human genes under selective constraint are disproportion

282 About half of human genes use alternative cleavage and polyadenylation

283 More than half of human genes use alternative cleavage and polyadenylation

284 The human gene uses only a single promoter, whereas the mous

285 Disease-causing variants in human genes usually lead to phenotypes specific to only

286 is review, we focus on new genomic tools for human gene variant analysis; new uses for the Drosophila

287 Human gene variants affecting ion channel biophysical ac

288 s are far from ideal, hindering the study of human gene variants in their physiologically relevant ce

289 been made in the identification of specific human gene variants that contribute to enhanced suscepti

290 Furthermore, a number of cis-acting human gene variants that modulate alternative splicing h

291 in controlling the expression of a subset of human genes via pre-mRNA splicing.

292 ative stress and 249 inflammation-associated human genes was performed.

293 f zebrafish duplicates to the co-orthologous human gene, we have demonstrated that a considerable fra

294 and further define whether mutations in the human gene were associated with AD.

295 ant domains and the resulting chimeric mouse-human genes were cloned into plant expression vectors fo

296 BRICHOS domains are encoded in > 30 human genes, which are associated with cancer, neurodege

297 On human genes with five or more copies, Red was more speci

298 scarless, and specific tagging of endogenous human genes with GFP.

299 Using a model system replacing endogenous human genes with their mouse counterpart, we performed a

300 Here we expressed the wild-type human gene (wtTARDBP) or the ALS mutation G348C (mutTARD