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 strophin isoforms expressed from the largest human gene.

3 microarray hybridization platform Affymetrix Human Gene.

4 s in 4 human cell lines associated with 2600 human genes.

5 splice variants) mapped to 19,049 annotated human genes.

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

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

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

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

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

11 integrations alter the transcription of the human genes.

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

13 decisions that affect the expression of most human genes.

14 00 000 tightly co-expressed pairs of diverse human genes.

15 this inaccurately describes splicing in many human genes.

16 enotypic effects of losing function for most human genes.

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

18 gral to termination of transcription on most human genes.

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

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

21 ance to loss-of-function (LoF) variation for human genes.

22 predictive tool to identify the function of human genes.

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

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

25 between extracted microbial metabolites and human genes.

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

27 dues facilitating interactions in ~63-69% of human genes.

28 l as three well-defined G4 structures in the human genes.

29 shaping the regulatory architecture of most human genes.

30 aB activator through a large-scale screen of human genes.

31 = 168), and three Asian-cohorts (Affymetrix Human Gene 1.0ST-Array = 61, Illumina = 52, Agilent 4 x

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

33 with single duplications (1 yeast gene to 2 human genes, 1:2) or higher-order expansions (1:>2) in t

34 rom PBMCs was hybridized onto the Affymetrix Human Gene 2.0 ST Array.

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

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

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

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

39 d panels comprising 25,600 exons from 10,000 human genes and 717 genes implicated in cancer, identify

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

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

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

43 , data banks, gene-disease maps, catalogs of human genes and genetic disorders, CRISPR/Cas9, big data

44 ing allele frequencies for the corresponding human genes and in silico simulations (Monte Carlo) of u

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

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

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

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

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

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

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

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

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

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

55 hydrolases(2,3) (encoded by one per cent of human genes, and including serine proteases and thioeste

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

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

58 iple imaging conditions and for thousands of human genes, and we evaluate through simulations which e

59 ally designed to model the incompleteness of human gene annotations-and computed semantic similaritie

60 Approximately 95% of human genes are alternatively spliced, and aberrant spli

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

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

63 Over 95% of human genes are estimated to be alternatively spliced as

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

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

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

67 ld this model, we use a pre-compiled list of human genes associated with age-related diseases and app

68 UNCALLED also enriched 148 human genes associated with hereditary cancers to 29.6x

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

70 Ranking human genes based on their tolerance to functional genet

71 care, the need for a consistent language for human genes becomes ever more vital.

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

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

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

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

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

77 The human gene catalogue is essentially complete, but we lac

78 hila gene CG8108, which is homologous to the human gene CIZ1, as essential for survival from the exec

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

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

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

82 nd 2019 and extracted 1,112,551 instances of human genes, comprising 13,464 unique NCBI genes, partic

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

84 We found several non-homologous human genes containing similar motifs of eight to 10 HX

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

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

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

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

89 Human gene copy number alteration data, microarray expre

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

91 (rAAVs) are increasingly becoming attractive human gene delivery vehicles, especially after the appro

92 Full-length transcription in the majority of human genes depends on U1 snRNP (U1) to co-transcription

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

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

95 with ultra-fast sequencing to screen 16,000 human genes during S. aureus infection and we identified

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

97 amily and identify a promising candidate for human gene editing from Bacillus hisashii, BhCas12b.

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

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

100 ingle nucleotide polymorphisms (SNPs) in the human gene encoding mGlu(1) (GRM1) are associated with s

101 pathy (CADASIL) arises from mutations in the human gene encoding NOTCH3 and results in vascular smoot

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

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

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

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

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

107 Mutations in two human genes, ERCC8/CSA and ERCC6/CSB, are causative for

108 posed method, DeepHE, can accurately predict human gene essentiality with an average performance of A

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

110 Human gene expression analysis showed increased expressi

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

112 gives rise to the widely observed "noise" in human gene expression and explains the distribution of p

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

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

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

116 rmed Shambhala for harmonization of multiple human gene expression datasets obtained using different

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

118 rich resource for the exploration of in vivo human gene expression in diverse tissues and cell types.

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

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

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

122 Human gene expression levels in humanized mouse livers w

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

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

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

126 dentify microbial sequences and characterize human gene expression patterns in 30 human brain biopsy

127 chosen because it has the biggest number of human gene expression profiles deposited in public datab

128 Here, we searched for uniquely human gene expression traits by analyzing 422 brain samp

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

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

131 the topography and regulatory complexity of human gene expression.

132 ibility of using type I-F system to regulate human gene expression.

133 s which regulate the dynamical properties of human gene expression.

134 exonic modularity of LRR domains of several human gene families, which is a precondition for alterna

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

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

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

138 Notably, 75 human genes formed fusion sequences due to viral inserti

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

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

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

142 Human genes governing innate immunity provide a valuable

143 ion (APA) can occur at more than half of all human genes, greatly enhancing the cellular repertoire o

144 at the transcriptomic level, we used the 200 human gene Hallmark Myogenesis list.

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

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

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

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

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

150 Most human genes have multiple sites at which RNA 3' end clea

151 With about 50% of human genes having more than two APA isoforms, current m

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

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

154 bot that tracks and tweets information about human genes implementing six principal functions: (i) tw

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

156 s to further functionally characterize these human genes in a simplified organismal context.

157 as a case study, we highlight how studies of human genes in Drosophila have aided our understanding o

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

159 with Enrichr, (v) responding to mentions of human genes in tweets with additional information about

160 003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary arter

161 variants) provide natural in vivo models of human gene inactivation and can be valuable indicators o

162 ein-coding genes provide an in vivo model of human gene inactivation that complements knockout studie

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

164 ected exRNAs from more than a quarter of the human genes, including small RNAs and fragments of mRNAs

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

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

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

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

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

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

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

172 It is known that research into human genes is heavily skewed towards genes that have be

173 therefore Gene Ontology annotation sets, for human genes is incomplete.

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

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

176 n statistics and temporal dynamics for three human genes: KDM5B, beta-actin, and H2B.

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

178 Mutation in the SHANK3 human gene leads to different neuropsychiatric diseases

179 y inactivating mutations in any of the three human genes leads to similar clinical presentations.

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

181 his end, it is interesting to speculate that human genes like CHRFAM7A can account for discrepancies

182 ost-dependency epistasis map (vE-MAP) of 356 human genes linked to HIV function, comprising >63,000 p

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

184 gs also support the hypothesis that uniquely human genes may be contributing to underrecognized human

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

186 besity-increasing mutations in MC4R from the Human Gene Mutation Database (HGMD) and Clinvar.

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

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

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

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

191 referentially by germline variation from the Human Gene Mutation Database, recurrent somatic variatio

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

193 ction of encoded proteins was examined using human gene mutation databases.

194 Human gene mutations have revealed that a significant nu

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

196 Human gene networks have proven useful in many aspects o

197 HumanNet now comprises a hierarchy of human gene networks, allowing for more flexible incorpor

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

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

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

201 ssessing the p63-dependent regulation of any human gene of interest.

202 tive splicing events in 7,757 protein-coding human genes, of which 1,246 are disease-associated.

203 50 kilobases of 3' UTR sequences from >2,000 human genes on steady-state mRNA abundance, mRNA stabili

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

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

206 rtal and Denisovan DNA persist in the modern human gene pool, but have been systematically purged by

207 n humans and contributed to the contemporary human gene pool.

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

209 of evolutionary divergence, several thousand human genes possess clearly identifiable orthologs in ye

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

211 Analysis of TCGA data using the human genes predicted to encode the proteins and protein

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

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

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

215 a guanine-metabolite-fill-in vG4 based on a human gene promoter sequence.

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

217 In human gene promoters, this results from an elevated 5'-G

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

219 rich resource for the exploration of in vivo human gene regulation in diverse tissues and cell types.

220 picture of the contribution of TEs to normal human gene regulation is still lacking.

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

222 ew global perspective on the architecture of human gene regulation.

223 n unicellular and multicellular genes within human gene regulatory networks (GRNs).

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

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

226 Overall, we performed >400 human gene replaceability assays, revealing 50 new human

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

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

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

230 Jbeta sequences, most of which correspond to human gene segments.

231 GS2 gene have been identified in large-scale human gene sequencing studies.

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

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

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

235 elop models of familial AD by overexpressing human genes such as those encoding amyloid precursor pro

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

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

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

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

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

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

242 ur method, we use two approaches to identify human genes that are not known to be associated with age

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

244 of the targets we identified have homologous human genes that have been implicated in cancer(2), the

245 , we screened a gain-of-function library for human genes that increase the expression of a GFP(rare)

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

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

248 genome-wide study to systematically identify human genes that promote cell death when silenced by shR

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

250 and that humans contain more microbial than human genes, the microbiome has huge potential to influe

251 the use of engineered bacteriophages-akin to human gene therapies delivered by viral vectors.

252 the use of SAdVs as gene delivery vectors in human gene therapy and vaccines, selected to avoid preex

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

254 resting as a scaffold for the development of human gene therapy vectors.

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

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

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

258 s has demonstrated outstanding potential for human gene therapy.

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

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

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

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

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

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

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

266 afety profile of gammaretroviral vectors for human gene therapy.

267 c role as a pathogen and emerging vector for human gene therapy.

268 and most reliable gene delivery vehicles for human gene therapy.

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

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

271 Here we demonstrate roles for three human genes, TNK2, WASL, and NCK1, in infection by multi

272 Assigning every human gene to specific functions, diseases and traits is

273 ilable data links a majority of known coding human genes to phenotypes, but the environmental compone

274 By separately comparing yeast, fly and human genes to related taxa using conservative criteria,

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

276 We found that silencing the human gene TRAM2 resulted in a significant reduction of

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

278 ne expression, the effects of these genes on human gene transcription networks, and the pathophysiolo

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 Almost 70% of human genes undergo alternative polyadenylation (APA) an

283 About half of human genes use alternative cleavage and polyadenylation

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

285 equencies and sizes for endogenous mouse and human genes using allele-sensitive single-cell RNA seque

286 escribe an approach to titrate expression of human genes using CRISPR interference and series of sing

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

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

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

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

293 s about SARS-CoV-2 that mention at least one human gene, we report here that the COVID-19 literature

294 We found that only 73/183 (40%) V, D and J human genes were shared between the reference germline s

295 differences were observed when mouse versus human genes were tested.

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

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

298 anscriptome analysis not only indicates that human genes with m6dA are associated with higher RNA tra

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

300 Alternative splicing is a key feature of human genes, yet studying its regulation is often compli