ライフサイエンスコーパス: genetic

1 stress is known to be influenced by sex and genetics.

2 Cancer cell lines carrying genetic aberrations that impair the Hippo signaling path

3 Genetic ablation of circadian clock function or environm

4 n N-terminal kinase (JNK) and c-Jun and that genetic ablation of JNK1 or JNK2 decreased ATZ levels in

5 ucial modulator of hyphal development, since genetic ablation of the HIR complex subunit Hir1 decreas

6 Purpose Minimal residual disease (MRD) and genetic abnormalities are important risk factors for out

7 ed cells within the cyst can be analysed for genetic abnormalities.

8 notypic data to study range-wide patterns of genetic admixture between the serpentine-soil specialist

9 FCMs, which combines a dynamical multi-agent genetic algorithm (dMAGA) with the decomposition-based m

10 (GBM) tumors exhibit potentially actionable genetic alterations against which targeted therapies hav

11 ctivating mutations in KRAS are the hallmark genetic alterations in pancreatic ductal adenocarcinoma

12 However, genetic alterations in the RB-regulated E2F family of tr

13 nase genes IDH1 and IDH2 are among the first genetic alterations observed during the development of l

14 ting Wnt signaling, we performed an array of genetic analyses in murine tooth development, where Lrp4

15 Phenotypic and genetic analyses of TF mutants enable the organization o

16 importance of accounting for environment in genetic analyses.

17 This model agrees with our previous genetic analysis and highlights the consequences of redu

18 Genetic analysis of sporozoite factors reveals the 6-cys

19 ing polysomnography (PSG), brain imaging and genetic analysis, were used.

20 and during post-test genetic counseling, and genetic ancestry predicted by a statistical model, were

21 Our study reconstructs the genetic and adaptive history of a neglected episode of t

22 Genetic and biochemical analyses demonstrated that SepA-

23 However, recent advances in genetic and biochemical tools, development of high-resol

24 A recent series of genetic and cell biological studies have shed light on t

25 Genetic and cell biological studies over almost 2 decade

26 endocrinology, and systems biology discussed genetic and environmental determinants of type 1 and typ

27 Genetic and environmental factors, such as metals, inter

28 niofacial malformations and involve multiple genetic and environmental factors.

29 may provide useful information about shared genetic and environmental risk factors and it may be rel

30 in candidate genes; therefore, more complex genetic and epigenetic methodologies are now being consi

31 mice, provide novel means for examining the genetic and molecular bases for neurodevelopmental impai

32 vo and provide an approach for exploring the genetic and molecular basis for impairment in the diseas

33 We aimed to identify genetic and pathological markers that have the strongest

34 Genetic and pharmacologic approaches were used to evalua

35 Much genetic and physiologic evidence points to impaired arou

36 ild 3.4.140), the BioGRID contains 1 072 173 genetic and protein interactions, and 38 559 post-transl

37 is the stability of phenotype under diverse genetic and/or environmental perturbations.

38 rget-specific oligonucleotides, which limits genetics and genomics research on many species.

39 rsity Resource (CeNDR) to enable statistical genetics and genomics studies of C. elegans and to conne

40 ng the mechanisms that link 1-carbon pathway genetics and the condition that we suggest calling, "ast

41 Humans challenge the phenotypic, genetic, and cultural makeup of species by affecting the

42 acid pattern may be influenced by metabolic, genetic, and dietary factors.

43 Using a conditional mouse genetic approach to disable nonredundant subunits of mTO

44 Using a forward genetics approach, one nonsense and four missense Gmsacp

45 n have been identified using biochemical and genetic approaches including specific knockdowns of gene

46 We combined forward and reverse genetic approaches with chromatin immunoprecipitation to

47 cuit mechanisms have been poorly explored by genetic approaches.

48 The genetic architecture of behavioral traits in dogs is of

49 Here, we aimed to gain insights into the genetic architecture of biomarker traits which can refle

50 ble to address important questions about the genetic architecture of complex traits, such as allele f

51 To understand the genetic architecture of how these two organs covary duri

52 ing DNMs are warranted to delineate the full genetic architecture of rare complex diseases.

53 Heterogeneity in genetic architecture underlying complex traits and disea

54 human brain tissue based on an individual's genetic architecture, thus enabling the functional valid

55 Genetic assays revealed that Abl allows growth factors a

56 he phenotypic characteristics and underlying genetics associated with amelanotic melanoma are unknown

57 Here, we use genetic association of molecular, cellular, and human di

58 Genetic association studies of local adaptation combine

59 Genetic association studies to date have not identified

60 while retaining statistical power to detect genetic associations.

61 The commonest genetic ataxias were Friedreich's ataxia (22%), SCA6 (14

62 However, the high variability of genetic background in human populations hampers the repr

63 function pathologies or have a heterogeneous genetic background.

64 g Tn mutant libraries generated in different genetic backgrounds (e.g. wild-type strain versus knocko

65 We introduced individuals from three genetic backgrounds (inbred - outbred) into a novel envi

66 se dNTP imbalances are strongly mutagenic in genetic backgrounds where DNA polymerase function or MMR

67 ngenital and childhood glaucomas have strong genetic bases and disease-causing mutations have been di

68 i.e. many complex phenotypes sharing common genetic bases.

69 etween traits within species and a conserved genetic basis across species.

70 y will demonstrate that idiopathic DCM has a genetic basis and guide best practices for a genetics-dr

71 Recent studies have helped to understand the genetic basis of clonal evolution and relapse and the ro

72 inconclusive study, nothing is known of the genetic basis of this phenomenon.

73 findings provide a comprehensive view of the genetic, biochemical structural, and serological bases o

74 n be used for the quantitative monitoring of genetic biomarkers within communities through the analys

75 Transmission was characterized by a strong genetic bottleneck.

76 However, factors other than PCa-such as genetics-can impact PSA.

77 from each other or from those with no prior genetic cause identified.

78 We sought the genetic cause of cardiac, vertebral, and renal defects,

79 ons in LRRK2 represent the most common known genetic cause of PD.

80 ween body mass and fitness, there has been a genetic change towards lower body mass.

81 amily history may miss clinically actionable genetic changes with established implications for cancer

82 Epigenetic and genetic cis-regulatory elements in diploid organisms may

83 Gene-specific expansion of the genetic code allows for UGA codons to specify the amino

84 osomes constrains the landscape of potential genetic combinations.

85 EgWRI1-1, one of three EgWRI1 orthologs, by genetic complementation of the Arabidopsis wri1 mutant.

86 sh, through fine mapping, genome sequencing, genetic complementation, and gene editing, that haploid

87 d suggesting that this arrhythmia may have a genetic component.

88 rescue operations in disaster zones, and to genetic computer algorithms exploring parameter spaces.

89 ulation, which therefore implies substantial genetic continuity in the Levant since at least the Bron

90 Such independent genetic control suggests that breeders will be able to s

91 test requisition forms and during post-test genetic counseling, and genetic ancestry predicted by a

92 may be relevant background data in clinical genetic counseling.

93 ter sequences and expression to test whether genetic coupling exists and investigate its phenotypic c

94 antly correlated with those based on neutral genetic data (on average r = 0.574, p < 0.001).

95 INTERPRETATION: Human genetic data suggest that both smaller apolipoprotein(a)

96 ioid-mediated mechanism; pharmacological and genetic data suggest the importance of delta-opioid rece

97 Genetic defects in DNA repair underlie other neurodegene

98 Here, we found that drug treatments or a genetic deficiency in the thioredoxin system that increa

99 NE uptake by SAMs is prevented by genetic deletion of Slc6a2 or inhibition of the encoded

100 In Necdin-KO pups, the genetic deletion of Slc6a4 or treatment with Fluoxetine,

101 anti-TNF-resistant intestinal inflammation, genetic deletion or pharmacological blockade of OSM sign

102 Genetic depletion of p62 robustly inhibited tumor-initia

103 Genetic diagnosis can help predict prognosis, especially

104 ission, respectively; 27% in children with a genetic diagnosis; and 79% and 52% in children with hist

105 ween BDI and BDII in etiology, partly due to genetic differences.

106 s VTE, biobanks provide potential to perform genetic discovery, explore the phenotypic consequences f

107 ting transcriptomics into the study of human genetic disease when DNA sequencing alone is not suffici

108 Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000

109 ion of some STRs was associated with various genetic disorders (e.g., the Huntington disease), and th

110 holds immense potential to treat a range of genetic disorders.

111 ecies pairs of Darwin's finches at different genetic distances.

112 In addition, the genetic distinction of serotype 35C from the closely rel

113 A major mechanism underlying the genetic diversification of influenza A virus is reassort

114 We show that gAHB retains high levels of genetic diversity after evolution of gentle behaviour, d

115 cobacterium smegmatis, encompass substantial genetic diversity and are commonly temperate.

116 Genetic diversity and population structure reflect compl

117 tailed characterization of plant genomes and genetic diversity is crucial for meeting these challenge

118 Genetic diversity is maintained by continuing generation

119 ds acted as long-term refuges and cradles of genetic diversity.

120 c histories influence geographic patterns of genetic diversity.

121 ortant consequences for their phenotypic and genetic diversity.

122 c angular correlation describing the size of genetic domains; and (3) a dimensionless constant quanti

123 length beyond which selection dominates over genetic drift; (2) a characteristic angular correlation

124 genetic basis and guide best practices for a genetics-driven approach to early intervention in at-ris

125 This Rb/MYCN model recapitulates key genetic driver alterations seen in human retinoblastoma

126 This genetic duet was indicated to be involved in the aggress

127 le regression models were fitted to estimate genetic effects on loge(CAC+1) and incident coronary eve

128 a more than 20% increase in power to detect genetic effects over other approaches and identifies new

129 evolutionarily conserved function in mobile genetic element (transposons) silencing and maintenance

130 gene transfer permits rapid dissemination of genetic elements between individuals in bacterial popula

131 driven by horizontal dissemination of mobile genetic elements carrying blaKPC-2, followed by the intr

132 To test for cis genetic elements required for Pxr function, we deleted t

133 Genetic elevation of MeCP2 T158M expression ameliorated

134 This variability likely reflects underlying genetic, environmental and neuropathological differences

135 lyses) are providing novel insights into the genetic, environmental, and cellular contributions to is

136 Our data provide a basis for genetic/epigenetic investigations to explore the role of

137 ermplasm, highlighting regions vulnerable to genetic erosion.

138 upport for the concept that the anatomic and genetic etiological bases of RLS are diverse.

139 Genetic etiology can be a prognostic indicator of diseas

140 ontributing to improved understanding of the genetic etiology of familial tooth agenesis.

141 eive a molecular diagnosis after the initial genetics evaluation, that rate is much lower.

142 Molecular and genetic evidence suggests that CPSF30-L works upstream o

143 Our study provides genetic evidence that impairment of trophoblast-specific

144 We found molecular and genetic evidence that reductions in Reln expression cont

145 Genetic experiments show that ectopic dATM is sufficient

146 Maternal and inherited (ie, case) genetic factors likely contribute to the pathogenesis of

147 Importantly, genetic factors operating at 8 years explained only appr

148 Genetic factors play a major role in the etiology of epi

149 opaminergic modulation, and the potential of genetic factors to stratify patients.

150 bivariate GWAS meta-analysis to demonstrate genetic factors with pleiotropic effects on bone mineral

151 phropathy, calcineurin inhibitors (CNI), and genetic factors.

152 describe the detailed clinical and molecular genetic findings in a series of patients with RP with li

153 These genetic findings provide additional evidence that the mi

154 Here, we apply a quantitative genetic framework to individual-based long-term data for

155 We summarize the conceptual foundations of genetic group animal models and provide extensive, step-

156 3 in 9%) who were evaluated in Mayo Clinic's Genetic Heart Rhythm Clinic from January 1999 to Decembe

157 Interestingly, we found genetic heterogeneity (that is, different sets of loci a

158 ation events, propagation of aneuploidy, and genetic heterogeneity in xenograft models likely through

159 Our results provide new insights into genetic histories of Siberian and Northeastern European

160 -scale micro-electrode array recordings with genetic identification and the anatomical location of th

161 International experts in genetics, immunology, metabolism, endocrinology, and sys

162 Europe using ancient nuclear DNA [1, 2], its genetic impact on northern and eastern parts of this con

163 This study sought to further explore the genetics in a larger set of patients following-up on the

164 s of a Drosophila larva model to investigate genetic influence on vulnerability to sugar overconsumpt

165 early stage research concerning the flow of genetic information from the nuclear residence of genes

166 idden relationships may augment the inherent genetic information that can be used for localization.

167 between Sde2 and Cactin further supported by genetic interactions and pre-mRNA splicing assays.

168 oposed for analyzing Tn-Seq data to identify genetic interactions, including estimating relative fitn

169 ing application of Tn-Seq is for identifying genetic interactions, which involves comparing Tn mutant

170 Genetic knockout of NRF2 demonstrates its role in develo

171 Genetic lineage tracing confirms the presence of the Tbx

172 ker analysis, cell proliferation assays, and genetic lineage tracing to define the lineage relations

173 dividual prophages and the host pneumococcal genetic lineage were strongly associated and some propha

174 olocalization and fine-scale synteny suggest genetic linkage between traits within species and a cons

175 24 drugs showed significant association with genetic load in a pan-cancer analysis.

176 Rhg4 is a major genetic locus that contributes to soybean cyst nematode

177 Genetic loss of Gcn2 intensified hepatic PERK activation

178 notype of a cancer cell is determined by its genetic makeup and microenvironment, which dynamically m

179 Genetic maladaptation to future climates is likely to be

180 Nonetheless, in recent years, genetic manipulation tools have been successfully applie

181 Using a combination of genetic mapping approaches, we show that the white reces

182 a KRAS fragment encoding G12D, an important genetic marker for guiding therapy of certain cancers.

183 We have defined genetic markers able to segregate stable HIV-1-controlle

184 ublished ancient DNA analyses of uniparental genetic markers have shown that the Guanches carried com

185 It is unclear whether genetic markers interact with risk factors to influence

186 Bacteria can exchange and acquire new genetic material from other organisms directly and via t

187 nelles involved the massive translocation of genetic material from the organellar genomes to the nucl

188 ch hinders the detection of small amounts of genetic material.

189 Here we explored the genetic mechanism underlying the expression of discrete

190 ariants and could elucidate shared molecular genetic mechanisms.

191 ix generations, invasions with any amount of genetic mixture (two, four and six sources) spread farth

192 this tradeoff using a stochastic population-genetic model.

193 gard to fitness and that standard population genetic models in fact well predict observed levels of b

194 wever, ex vivo expansion and pharmacological/genetic modification of human cardiac progenitor cells (

195 The combination of CHC coating and genetic modification provided the greatest compatibility

196 The genetic/molecular model Dictyostelium and mammalian phag

197 Genetic mosaic and cell type-specific expression studies

198 tly longer in response to the odour of their genetic mother or father compared to the odour of a non-

199 myocardial necroptosis and remodeling using genetic mouse models.

200 xtensively described and their corresponding genetic mutations can now be readily detected.

201 matched the immunophenotype, morphology, and genetic mutations of the corresponding patient.

202 concerns for applying CRISPR-Cas9 to correct genetic mutations.

203 lfare, as well as to scientists studying the genetics of animal (including human) behavior.

204 lected as part of the Yale-Penn study of the genetics of drug and alcohol dependence from February 14

205 This review discusses the discovery and genetics of LOX-1; describes existing evidence supportin

206 Recent research into risk factors and genetics of stroke has not only identified those at risk

207 To understand the population genetics of structural variants and their effects on phe

208 inherent predictability, may occur and what genetic or environmental factors may hinder it.

209 Genetic or pharmacologic inhibition of EGFR tyrosine kin

210 Genetic overlap between schizophrenia and social communi

211 Genetic, physiological, or chemical inhibition of respir

212 Our findings demonstrate genetic pleiotropy in these neurodegenerative diseases a

213 A genetic predisposition to higher serum calcium levels wa

214 entral to understanding geometric control of genetic programs involved in cellular homeostasis and th

215 ffects of microRNA (miRNA) regulation on the genetic programs underlying behavior remain largely unex

216 Using combined methods of genetics, proteomics and RNA biochemistry, we identified

217 s and applied phylogenetic methods to assess genetic relatedness and to estimate the time to most rec

218 ate Gadidae fish species, according to their genetic relationship, is proposed.

219 n Tourette syndrome is partly due to complex genetic relationships among Tourette syndrome, obsessive

220 ntly generate personalized in vivo models of genetic renal diseases bearing patient-specific mutation

221 a cancer therapy, efficient reovirus reverse genetics rescue will accelerate production of recombinan

222 mons Simplex Collection (SSC) and the Autism Genetic Resource Exchange (AGRE) cohorts of children wit

223 efficacy of statin therapy in those at high genetic risk (top quintile of polygenic risk score) vers

224 thesized that individuals with more diabetes genetic risk alleles have a higher risk of developing DR

225 ine, and change in BMI differed according to genetic risk based on lifetime breast cancer risk from b

226 Coupled with a significant genetic risk factor for AD, changes in modulation may pr

227 enabling the functional validation of known genetic risk factors and potentially pathogenic alleles

228 the recent identification of immune-related genetic risk factors for AD, including coding variants i

229 udy of inherited forms of early-onset AD and genetic risk factors that provide insights about molecul

230 an additive effect on FEV1/FVC levels in the genetic risk score analysis; were associated with gene e

231 We examined associations between AF genetic risk scores and ischemic stroke in a separate st

232 hin the mild range as they may interact with genetic risk to produce negative long-term health conseq

233 us and developed a predictive model based on genetic risk, established clinical risk factors, and dia

234 Here, we designed a genetic screen around E. coli that identified high-affin

235 they can be used for high-throughput reverse genetic screens to help functionally annotate the Ae. ae

236 otypic patterns may increase productivity in genetic screens, and facilitate the study of genetic var

237 By comparing the genetic sequence of viruses from vaccine and placebo rec

238 In a general clinical genetics setting, the current diagnostic rate is approxi

239 Interestingly, the population prevalence for genetic short root anomaly (SRA) with no apparent defect

240 Population genetic signatures indicated that this autoimmunity vari

241 actin action in the MPOA using complementary genetic strategies in mice.

242 Using multiple genetic strategies, we demonstrated that E proteins E2A

243 flow by the quantification of regional-scale genetic structure and isolation by distance among 18 pop

244 Subsequent genetic structure is attributed to Pleistocene climatic

245 Genetic studies and transcriptional profiling experiment

246 recurring theme emerging from developmental genetic studies in grass models, that is that infloresce

247 Mouse models and genetic studies suggest the involvement of TH1 and type

248 By pharmacologic and genetic studies, we identify FKBP12 as a novel hepcidin

249 We conducted a genetic survey at 10 microsatellite loci of 482 coyotes

250 These results suggest that shared genetic susceptibility contributes modestly to MDD and A

251 port previous reports of a relationship with genetic susceptibility.

252 o resolve these questions using conventional genetic techniques.

253 HCHWA-D mutation carriers diagnosed through genetic testing and recruited through the HCHWA-D patien

254 Guidelines for cancer genetic testing based on family history may miss clinica

255 Purpose Guidelines are limited for genetic testing for prostate cancer (PCA).

256 he Huntington disease), and thus was used in genetic testing for screening individuals at high risk.

257 In 20 of 41 participants, panel genetic testing identified variants classified as pathog

258 Genetic testing should be considered in individuals with

259 l to identify families who will benefit from genetic testing, determine the best strategy, and interp

260 These results are consistent with population genetic theory, which predicts that deleterious mito-nuc

261 mics Consortium (PGC)-Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) PTSD Working Gro

262 We developed a genetic toolkit to study MT dynamics and function in div

263 new type of model system driven not only by genetic tractability, but by ecologically relevant quest

264 ted HHV-6 (ciHHV-6), which is inherited as a genetic trait.

265 there is also evidence to support underlying genetic variance.

266 nalysis provides increased power to discover genetic variants and could elucidate shared molecular ge

267 Genetic variants annotated to the hedgehog interacting p

268 Ox40 ligand (Ox40L) locus genetic variants are associated with the risk for system

269 Mendelian randomization is the use of genetic variants as instrumental variables to estimate c

270 great potential to enable identification of genetic variants associated with clinical phenotypes.

271 Here, we studied genetic variants associated with human height to assess

272 genetic screens, and facilitate the study of genetic variants associated with smaller effect sizes, s

273 re more challenging to identify than smaller genetic variants but may substantially contribute to phe

274 We discuss how associated genetic variants can lead to understanding causal mechan

275 'detecting and genotyping simple and complex genetic variants in an individual or population'.

276 genes, and the pathological significance of genetic variants in human cardiovascular diseases.

277 Since complement activation and genetic variants in inhibitory complement factor H (CFH)

278 lution and relapse and the role of inherited genetic variants in leukemogenesis.

279 ions between the FEV1/FVC ratio and 5 common genetic variants in the identification cohort, and 2 of

280 herefore, we hypothesized that certain PCSK9 genetic variants may modify the association between LC n

281 informative in distinguishing the subset of genetic variants more likely to have functional relevanc

282 ion that is largely attributed to two common genetic variants, termed G1 and G2, in the APOL1 gene.

283 effects of smoking on risk for IBD depend on genetic variants.

284 experimental validation to demonstrate that genetic variation affects expression of VAC14, a phospho

285 teppe, can be investigated using patterns of genetic variation among the people who lived in those ti

286 HPA axis genetic variation and activity were important predictors

287 The connection between genetic variation and drug response has long been explor

288 Little is known about how genetic variation and epigenetic marks interact to shape

289 nvironmental variation on both selection and genetic variation are especially scarce.

290 8 years explained only approximately 50% of genetic variation at 17 years.

291 ayal of demographic inferences and highlight genetic variation indicative of selection at specific ge

292 Moreover, we show a widespread effect of genetic variation on the regulation of transcription, is

293 d considerable interest as a type of genomic/genetic variation that plays an important role in diseas

294 To identify common or rare genetic variation with potential therapeutic implication

295 een variation produced by mutation, standing genetic variation, and the rate of evolution over the la

296 tion in this phenotype attributable to viral genetic variation.

297 work to display large population datasets of genetic variation.

298 nd Prevotella copri) or continuous microbial genetic variations (e.g., for Faecalibacterium prausnitz

299 Previously, we observed that genetic variations in ECM genes are associated with an i

300 Using reverse genetics, we generated a ToV-PLP knockout recombinant vi