ライフサイエンスコーパス: genetic

1 ontexts (e.g., cancer, mouse genetics, yeast genetics).

2 6% of hearing loss is genetic and 44% is not genetic.

3 ts remains a major challenge in evolutionary genetics.

4 lds of virology, genomics, and human disease genetics.

5 tion they can convey in the context of human genetics.

6 Here, we found that global genetic ablation of EHD2 in mice leads to increased lipi

7 We show that genetic ablation of IFT20 in vitro slows keratinocyte mi

8 ssion of small GTPase proteins in cells upon genetic ablation of METTL3 (the catalytic subunit of the

9 Genetic ablation of serine protease inhibitor SerpinB9 (

10 Interestingly, genetic ablation of TRPML1 in mice (Mcoln1 (-/-) ) induc

11 ative diseases, the majority of which have a genetic aetiology.

12 Importantly, genetic alterations in the most extensively rewired PPIN

13 Genetic analysis of known nanophthalmos genes MFRP and T

14 risk categories and phenotypic variables and genetic ancestry.

15 oss, we estimate that 56% of hearing loss is genetic and 44% is not genetic.

16 of these components in ETI was confirmed by genetic and biochemical analyses.

17 Using genetic and chemical tools, we demonstrated that FACT is

18 transient rhinitis involve a combination of genetic and early environmental exposures, whereas late

19 twin modeling to decompose correlations into genetic and environmental components, and structural equ

20 understood, it is believed to comprise both genetic and environmental factors.

21 These exposures can not only cause genetic and epigenetic alterations in colorectal epithel

22 ur findings indicate that the integration of genetic and epigenetic data can facilitate better unders

23 By integrating multiple sources of genetic and genomic data, we show that putative G-quadru

24 ontrol of HIV-1 infection has been linked to genetic and immune host factors.

25 Using genetic and pharmacological approaches, we show that dep

26 Gbetagamma, and the details of combinatorial genetic and physiological interactions of different Galp

27 Recent advancements in genetic and proteomic technologies have revealed that mo

28 e of T-R conflicts, our understanding of the genetic and temporal nature of how cells respond to them

29 s provide a better understanding of both the genetic and the physiological mechanisms responsible for

30 ropean cohorts (Epidemiological Study on the Genetics and Environment on Asthma and the European Comm

31 parasite developmental stages using reverse genetics and holds great potential to identify novel dru

32 Using genetics and mathematical modeling, we develop an altern

33 quences, we perform phylogenetic, population genetics, and structural bioinformatics analyses.

34 has been tremendous progress in identifying genetic anomalies linked to clinical disease.

35 8; 95% CI, 1.03, 2.73, P = .03), interest in genetics (aOR, 2.89; 95% CI, 1.95, 4.29, P = .001), and

36 aspase-8 mediates CD95 signaling, we applied genetic approaches to dissect the roles of caspase-8 in

37 Genetic approaches were conducted to analyze SlDLK2 expr

38 their activity through rational chemical or genetic approaches.

39 ariants in multiple populations and compared genetic architecture and the effect of natural selection

40 Here we report differences in genetic architecture between depression defined by minim

41 y and offer further insight into the complex genetic architecture of cross-cancer susceptibility.

42 The genetic architecture of each individual comprises common

43 and comprehensive analyses revealed distinct genetic architecture of human NP and AF compartments and

44 Our findings highlight an unusual genetic architecture of MN, with four loci and their int

45 c characters evolved from a shared ancestral genetic architecture.

46 resence of population-specific components of genetic architecture.

47 tion to different environments hinges on its genetic architecture.

48 We survey how the recent developments in genetics are beginning to provide social scientists with

49 We also performed genetic assays on 5 years of field samples that showed p

50 A plethora of genetic associations between distinct loci and various t

51 The differences in genetic associations with prevalent and incident CAD bet

52 Genetic associations with the risks for developing alcoh

53 encing analysis at the Department of Medical Genetics at La Timone Hospital (Marseille, France).

54 e pairs are more likely to occur on the same genetic background as a results of serotype switching, b

55 factors in the perinatal environment and the genetic background of the comparison group.

56 The influence of genetic background on driver mutations is well establish

57 APA in elav/fne double mutant CNS, the first genetic background to largely abrogate this distinct APA

58 for investigating the interplay between the genetic background, exogenous, and endogenous factors wi

59 s could reduce this threat due to DTG's high genetic barrier to resistance.

60 thout activating mutations, suggesting a non-genetic basis for enhanced activity.

61 With growing knowledge of the genetic basis of atherosclerotic cardiovascular disease-

62 olism thus offers opportunities to probe the genetic basis of metabolic and phenotypic variation, pro

63 Our findings shed light on the genetic basis of resting Tpe and Tpe response to exercis

64 An understanding of the genetic basis of sex determination may lead to new metho

65 interacting traits, and that elucidating the genetic basis of these traits is required to assess mode

66 Understanding of the genetic basis of this disorder highlights fundamental be

67 eating murine models that better reflect the genetic basis of trisomy 21.

68 strophic A-ZIP transgenic mice, which have a genetic block in adipogenesis.

69 servation units should be modified, as clear genetic breaks do not exist beyond the local population

70 ngs demonstrate that pre-existing hereditary genetics can impact progression and survival outcomes of

71 in the C9orf72 gene is the most common known genetic cause for amyotrophic lateral sclerosis (ALS) an

72 The most common genetic cause of amyotrophic lateral sclerosis (ALS) and

73 urodegenerative diseases that share a common genetic cause, which is an expansion of CAG repeats in t

74 ach led to the identification of seven novel genetic causes of monogenic diabetes, six by exome seque

75 entation together with important advances in genetics, cell biology and spectroscopy.

76 their association with patient clinical and genetic characteristics.

77 ravity responsive device using an engineered genetic circuit in E.coli, which responded to microgravi

78 s embedded in the structure of the universal genetic code and may have contributed to shaping it.

79 on-based regulatory response inherent to the genetic code.

80 Here, we used genetic colocalization analysis to identify loci at whic

81 importance of employing true null mutants in genetic complementation studies.

82 Inborn errors of metabolism are genetic conditions that can disrupt intermediary metabol

83 in treating KID syndrome and other dominant genetic conditions.

84 ming and landscape conversion may reduce the genetic connectivity of marten populations in the northe

85 Ten centers from the AF Genetics Consortium identified patients who had undergon

86 dulated by changes in cellular conditions or genetic context, the latter determined using a pairwise

87 alysis features in several analytic aspects: genetic correlation, cross-trait meta-analysis, Mendelia

88 Despite strong transethnic genetic correlations reported in the literature for many

89 in the TYMP gene would be very important for genetic counseling and subsequent early diagnosis and in

90 d 119 second-degree relatives), 60% attended genetic counseling.

91 Using a series of genetic crosses that separate parental and zygotic contr

92 Using these genetic data, we evaluate the population genetic structu

93 confirmation were performed to identify the genetic defect.

94 Genetic defects that accumulate in haematopoietic stem c

95 its lineage complexity and lack of a concise genetic definition.

96 Genetic depletion of cyclin-dependent kinase 12 (CDK12)

97 odel in which CAF plasticity is modulated by genetic depletion of the transcription factor Prrx1.

98 However, the underlying genetic determinants of CHK1 inhibitor sensitivity remai

99 in nature and have been widely studied from genetic/developmental and evolutionary perspectives.

100 ith diabetes before 2 years of age without a genetic diagnosis.

101 sidered responsible for the previously noted genetic difference.

102 ow the species level to the finest scales of genetic differences.

103 omparable genetic diversity but display high genetic differentiation, a potential consequence of both

104 e transferability of European ancestry-based genetic disease risk and polygenic scores, substantiatin

105 chment information can explain phenotypes of genetic diseases, which cannot be obtained by transcript

106 thalassemia syndromes are the most prevalent genetic disorder globally, characterised by reduced or a

107 emia inflammatory (PAMI) syndrome is a novel genetic disorder, causing hypercalprotectinemia and hype

108 logenesis imperfecta (AI) is a collection of genetic disorders affecting the quality and/or quantity

109 percentage of cases associated with specific genetic disorders and the proportion of variants that we

110 for studying primary cilia in vitro, with a genetic dissection of the protein-protein binding relati

111 vidence indicates an additional role for the genetic diversity among MTBC clinical strains.

112 Mutations are the source of both genetic diversity and mutational load.

113 eading to habitat fragmentation and a higher genetic diversity and structure in ground-level populati

114 across the Mediterranean contain comparable genetic diversity but display high genetic differentiati

115 Vs have been relatively stable in population genetic diversity for years.

116 Genetic diversity in offspring is induced by meiotic rec

117 Reassortment is an important source of genetic diversity in segmented viruses and is the main s

118 genome-wide SNP identification and to assess genetic diversity of both Chilean and Spanish germplasm

119 Two hypotheses were tested for the genetic diversity of these populations: (1) populations

120 d A. zeteki populations, describe changes in genetic diversity over time, assess the relationship bet

121 Genetic diversity within and among 42 native populations

122 ation regarding their clinical epidemiology, genetic diversity, and mechanisms of carbapenem resistan

123 RSVs are undergoing a decrease in population genetic diversity, NADC34-like PRRSVs have been relative

124 in compromised by lead poisoning and limited genetic diversity.

125 acteria drives high within-host pneumococcal genetic diversity.

126 ween selection and the stochastic effects of genetic drift, estimating an effective population size o

127 relative contributions of maternal and fetal genetic effects behind these observed associations are u

128 cteriophages that prey upon them, and mobile genetic elements (MGEs) compete in dynamic environments,

129 However, the genetic elements that distinguish grasses that are sensi

130 rimarily driven by technological advances in genetic engineering and metabolism as well as by the rea

131 es of oral bacterial delivery, from internal genetic engineering approaches to external encapsulation

132 ontinued advances in fundamental immunology, genetic engineering, gene editing, and synthetic biology

133 The genetic entities in such simulations should not be gener

134 Complex interaction between genetics, epigenetics, environment, and nutrition affect

135 Although extensively investigated, the genetic etiology of NTDs remains poorly understood.

136 This formal genetic evidence for the importance of Btnl heteromers a

137 Genetic evidence has revealed that the accumulation of g

138 However, genetic evidence in mouse models for prostate cancer to

139 Here, we provide genetic evidence that Drp1 inhibition is neuroprotective

140 Finally, we provide genetic evidence that NPVF acts upstream of serotonin in

141 Very short tandem repeats bear substantial genetic, evolutional, and pathological significance in g

142 r and the timing of reproduction can inhibit genetic exchange between closely related species; howeve

143 provides evidence of a shared host, in which genetic exchange occurs.

144 isorders in individuals with PNES shows that genetic factors are likely to play a role in PNES or its

145 Additive genetic factors explained between 49.1% and 62.7% of var

146 ions is central to understanding the role of genetic factors in health and disease.

147 as undeniable impact, evidence suggests that genetic factors play a significant role in completed sui

148 ntrol during hypoxia at altitude, by linking genetic factors with cardiovascular dynamics, as evaluat

149 tability of AD was estimated to be 57.0% for genetic factors, and 3.1% and 40.0% for shared and nonsh

150 populations, which are mostly driven by non-genetic factors.

151 Genetic faults in several components of the nuclear fact

152 mRNA translation represents the last step of genetic flow and primarily defines the proteome.

153 ciation showed not only significant loci for genetic generalized and developmental and epileptic ence

154 describe how functional genomics and reverse genetics have contributed to our understanding of this i

155 r cell survival under stress and fosters non-genetic heterogeneity (NGH).

156 tubal intraepithelial carcinoma (STIC), with genetic heterogeneity providing a platform for HGSC evol

157 m of FgMsb3 has been further investigated by genetic, high-resolution microscopy and high-throughput

158 A second, cooperating genetic hit is often required to push these hyperplastic

159 disorder with multiple interactions between genetic, immune and external factors.

160 Last, we demonstrated that genetic induction of lipid cacostasis in the CNS of norm

161 Understanding how genetics influence mammographic features is important be

162 ease-associated genetic risk score to detect genetic influences on GBA risk and age at onset.

163 ed genomes of mitochondria and plastids, all genetic information is sequestered within the nucleus.

164 leoside pool can significantly contribute to genetic instability in DNA mismatch repair-defective hum

165 Veteran Program (MVP) were used to construct genetic instruments for plasma lipid traits.

166 a knock-out mice-indicating a functional and genetic interaction between Xinbeta and YAP.

167 text, the latter determined using a pairwise genetic interaction map that identifies numerous interac

168 Systematic mapping of genetic interactions (GIs) and interrogation of the func

169 Despite this advance, few genetic interactions have been reproduced across multipl

170 Genetic knockout of one allele of Eprs globally (Eprs(+/

171 rs to infer endogenous peptide activity, and genetic knockout of opioid peptide precursors.

172 However, further accumulation of genetic lesions drives the activation of cell death to e

173 on of the genome contributing to this shared genetic liability with other conditions than for strictl

174 pulations, provides a foundation to identify genetic loci and genes controlling micronutrient content

175 ciation Studies) have identified hundreds of genetic loci associated with atrial fibrillation (AF).

176 enhance statistical power to identify novel genetic loci for depression.

177 Using genetic manipulations, Argonaute-immunoprecipitations an

178 , the data point to putative transcriptional genetic markers of susceptibility.

179 The milk samples contained genetic material from various bacterial species and the

180 le and have an important role in segregating genetic material.

181 olecular structures and functions via simple genetic mechanisms that recruit existing biophysical fea

182 opportunities for improving understanding of genetic mechanisms underlying the development and functi

183 blasting and drought stress and reveals the genetic mechanisms underlying these processes.

184 tions provide extensive diversity to harness genetic, mechanistic and phenotypic variation associated

185 Here, we discuss genetic models of mouse DC development and function that

186 In addition, genetic modifier screens can be used to elucidate diseas

187 hlight experimental data that illustrate how genetic mutations drive telomere shortening and dysfunct

188 cell carcinoma (ccRCC), is characterized by genetic mutations in factors governing the hypoxia signa

189 t database recording 1218 disease-associated genetic mutations that may function through regulation o

190 ment, emphasizing their mutual dependence on genetic network features, fitness landscapes, and develo

191 e association studies have shed light on the genetics of early growth and its links with later-life h

192 or accurate interpretations of the ancestral genetics of this population.

193 osynapsis has no previously known definitive genetic or environmental causes.

194 s, but this protection is not conferred upon genetic or pharmacological abolition of the catalytic ac

195 We examined the effects of genetic or pharmacological inhibition of IFN-beta, a key

196 schizophrenia may partly be explained by the genetic overlap between the two phenotypes and, hence, s

197 s are essential for studying a wide range of genetic parameters in Lilium species.

198 ralysis that can be used to rapidly identify genetic partners of dystrophin.

199 etic systems are prone to failure when their genetic parts contain repetitive sequences.

200 t evidence regarding the common pathways for genetic pathogenesis and the anatomical distribution of

201 ration, including further elucidating of the genetic pathway of which it is a part, determining its r

202 f their hereditary risk, they do not, from a genetic perspective, simply reflect milder and more seve

203 from gene expression data acquired following genetic perturbation or environmental stimulus.

204 Genetic perturbations causing uncharged transfer RNA (tR

205 Acute genetic perturbations that eliminated caveolae in aECs,

206 ractions change across developmental models, genetic perturbations, drug treatments, and disease stat

207 homa (DLBCL) is confounded by its pronounced genetic, phenotypic, and clinical heterogeneity.

208 responses depends upon interactions between genetic, phenotypic, and environmental factors.

209 ng to TSPO was not susceptible to the rs6971 genetic polymorphism in human brain and heart samples.

210 ng the "net state of immunosuppression," and genetic polymorphisms associated with poor fungal immuni

211 Genetic polymorphisms in the region of the trimeric seri

212 Genetic polymorphisms were obtained from ImmunoChip anal

213 standing the potential clinical utility of a genetic predictor that might further refine the assessme

214 ized to be a result of the interplay between genetic predisposition and increased vulnerability to ea

215 r concerning UV exposure is complicated by a genetic predisposition shared with neuropsychological tr

216 ophysiology is complex and involves a strong genetic predisposition, epidermal dysfunction, and T-cel

217 A genetic predisposition, smoking, obesity and hormonal fa

218 ates for mutations were calculated to assess genetic predisposition.

219 We aimed to evaluate the clinical and genetic prevalence of lipodystrophy disorders in a large

220 characteristics, which converged with broad genetic profiles.

221 Here we describe a robust genetic program that intrinsically attenuates apoptosis

222 hree epicardial subpopulations with specific genetic programs and distinctive spatial distribution.

223 Both genetic programs arising from oncogenic events and trans

224 The platform combines Ares Genetics' proprietary database ARESdb with state-of-the-

225 isolated from other areas showed that active genetic reassortment occurred in IDV and that five reass

226 selection coefficients, and the addition of genetic recombination and local linkage brings about sig

227 Therefore, to determine if there is a genetic relationship in a C(4) plant between delta(13) C

228 g single-cell RNA-sequencing (scRNA-seq) and genetic reporter mice, we identified discrete lineages o

229 rase II and enolase proteins with a negative genetic retinal dystrophy panel.

230 We determined associations of MC1R genetic risk categories and phenotypic variables and gen

231 ene variant should be offered individualized genetic risk evaluation, counseling, and genetic testing

232 E (APOE) epsilon4 allele is the most common genetic risk factor for AD and is related to a pro-infla

233 evidence for infectious, environmental, and genetic risk factors described.

234 re seronegative but have villous atrophy and genetic risk factors for celiac disease must undergo end

235 Genetic risk for a disease in the population may be repr

236 Whether genetic risk for MS is associated with brain structure d

237 and Dnmt3b were enriched for kidney disease genetic risk loci.

238 se in the population may be represented as a genetic risk score (GRS) constructed as the sum of inher

239 e most recent Parkinson's disease-associated genetic risk score to detect genetic influences on GBA r

240 Genetic risk scores were not associated with cardiovascu

241 Common IRF5 genetic risk variants associated with multiple immune-me

242 Genetic risk variants strongly associated with expressio

243 ding insight into the lifetime impact of SVD genetic risk.

244 rectly and instead can only be inferred from genetic samples, which are unavoidably subject to measur

245 By coupling in vivo ribosome profiling with genetic screening, we provide direct evidence that oncog

246 We recently used CRISPRi/a-based chemical-genetic screens and cell biological, biochemical, and st

247 From genetic screens in C. elegans, we identified splicing fa

248 s the use of iterative "perturb and observe" genetic screens to uncover regulatory mechanisms driving

249 OR, 2.89; 95% CI, 1.95, 4.29, P = .001), and genetics self-efficacy (aOR, 2.38; 95% CI, 1.54, 3.67, P

250 Genetic sequences from 320 MSI tumor biopsies and matche

251 d by an increase of PGC1alpha in response to genetic (shRNA and CRISPR/Cas9) and pharmacologic (crizo

252 ese findings and the accompanying population genetic simulations suggest that molecular adaptation is

253 extension into the sensory domain, we used a genetic sparse labeling approach to track SGNs and found

254 Taken together, we have provided genetic, structural, and chemical evidence that Gna1 is

255 sing the 2bRAD approach to assess fine-scale genetic structure across these sites.

256 a longitudinal design were tested to assess genetic structure in sympatric An. cruzii populations an

257 ese genetic data, we evaluate the population genetic structure of historical A. varius and A. zeteki

258 Taken together, our data shed light on the genetic structure of the HHV-6A and HHV-6B integration l

259 Genetic studies indicate that DAF-2B influences dauer en

260 WE test fills an important gap in population genetic studies of tetraploids related to their evolutio

261 These human genetics studies and recent in utero animal modeling wor

262 Genetic subtypes of dystonia may respond differentially

263 major histocompatibility complex-associated genetic susceptibility translates into autoimmune diseas

264 gies is limited in part by the lack of small genetic switches with wide dynamic ranges that control t

265 We report a reverse genetic system for SARS-CoV-2.

266 ic approach to TBI in Drosophila, a powerful genetic system that shares many conserved genes and path

267 Engineered genetic systems are prone to failure when their genetic

268 red cytosines to uracils, creating permanent genetic tags for the position of an R-loop.

269 respondents (61%) expressed high interest in genetic testing as a PLD: age >=35 years (adjusted odds

270 Genetic testing for hereditary predisposition to cancer

271 e literature and highlight the importance of genetic testing in the relevant clinical context of elec

272 Genetic testing may inform prevention, diagnosis, and tr

273 zed genetic risk evaluation, counseling, and genetic testing.

274 nerations (IRDs) are at the focus of current genetic therapeutic advancements.

275 Given that genetic therapies currently tested in HD are primarily e

276 Using a variety of genetic tools and epistasis experiments in P. putida, we

277 ients with ABCA4 variants using conventional genetic tools and next-generation sequencing technologie

278 Yet, the paucity of reverse genetic tools for choanoflagellates has hampered direct

279 s often been limited by the unreliability of genetic tracers.

280 have revolutionized our understanding of the genetic underpinnings of cardiometabolic disease.

281 e tool for detecting causal effects by using genetic variant associations.

282 reveal that a gain-of-function JAK1 genetic variant results in a mutant protein with mosaic

283 w methods for assaying putatively functional genetic variants and regions, emphasizing MPRAs and the

284 er understand the functional significance of genetic variants and to utilize the discovery of molQTLs

285 Mendelian randomization (MR) is the use of genetic variants as instrumental variables to infer the

286 We aimed to identify genetic variants associated with asthma hospitalizations

287 eveloping brains, we identified thousands of genetic variants exhibiting allele-specific open chromat

288 We identified genetic variants for MR analysis to investigate the caus

289 Candidate genetic variants were identified by whole-exome sequenci

290 r's infinitesimal model of a large number of genetic variants, each with very small effects, whose ca

291 challenge requires us to identify causative genetic variants, relevant cell types/states, target gen

292 levels, and such effects may be moderated by genetic variants.

293 omputational study that exploits the natural genetic variation across five closely related species to

294 OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variatio

295 ntal gradients potentially due to geographic genetic variation and climate interactions with other as

296 Here, we integrate estimates of genome-wide genetic variation with demographic and niche modeling to

297 The fraction of disease risk attributable to genetic variation, termed heritability, is high, with es

298 in the general population was similar using genetic versus clinical diagnoses.

299 ous biological contexts (e.g., cancer, mouse genetics, yeast genetics).

300 Achieving step changes in genetic yield potential is crucial to ensure food securi