ライフサイエンスコーパス: gene dosage

1 ted, suggesting combined roles in regulating gene dosage.

2 otype can be largely rescued by reducing Ret gene dosage.

3 nderstanding of phenotype variability due to gene dosage.

4 fect that is suppressed by reduction in Wnt5 gene dosage.

5 lities, which may depend on both age and Cre gene dosage.

6 s state, demonstrating a tight dependence on gene dosage.

7 methylation states in both models of reduced gene dosage.

8 uced 50% in several tissues, consistent with gene dosage.

9 barriers depending on genetic variation and gene dosage.

10 a wide range of diseases caused by abnormal gene dosage.

11 n PKD involving miRNAs and regulation of PKD gene dosage.

12 hat is sensitive to both genetic context and gene dosage.

13 lts were obtained with MET and HGF, nor with gene dosage.

14 lly driven and not explained by X chromosome gene dosage.

15 ncreased expression of trisomic genes due to gene dosage.

16 ozygotes, indicating sensitivity to Tra2beta gene dosage.

17 ly alter DNA content, chromosome number, and gene dosage.

18 uced TNF-R1 shedding was dependent on the A8 gene dosage.

19 ighly sensitive to genetic background and to gene dosage.

20 pression changes by increasing or decreasing gene dosage.

21 elatively mild (15-30%) decreases in overall gene dosage.

22 that expression is not strictly coupled with gene dosage.

23 g an isogenic iPSC line with normalized SNCA gene dosage.

24 ing levels of aneuploidy with decreasing Tau gene dosage.

25 sification rather than by the maintenance of gene dosage.

26 usage, which was corrected by reducing Fgf9 gene dosage.

27 ram and regulated by a balanced SOX17-BLIMP1 gene dosage.

28 and p53 are consistent across cell types and gene dosage.

29 a Dyrk1a inhibitor or by normalizing Dyrk1a gene dosage.

30 on are consistent with selection on relative gene dosage.

31 lization, whereas others focus on sharing of gene dosage.

32 nts (33A and 33B) with widely different rRNA gene dosages.

33 by which XX and XY mammals equalize X-linked gene dosages.

34 ron acts as a backup to maintain appropriate gene dosages.

35 n forces: selection on relative and absolute gene dosages.

36 In view of gene dosage, a cell cycle is divided into an early stage

37 come used widely to study DS, the effects of gene dosage abnormalities, and the effect on the basic b

38 Our results indicate that subtle changes in gene dosage across a chromosome can have significant phe

39 We demonstrate that IZH2 and IZH3 gene dosage affects resistance to polyene antifungal dru

40 ome are apparently beneficial to rebalancing gene dosage after duplication.

41 ciliary trafficking, but reduction of Ift122 gene dosage also suppresses the Dync2h1 phenotype.

42 nnels and that increased and decreased shn-1 gene dosage alter L-channel current and activity-induced

43 Gene dosage alterations caused by aneuploidy are a commo

44 epresent complete deletions but do represent gene-dosage alterations, impact cancer cell functions?

45 Studies in mice suggest that Olig2 gene dosage alters cerebral cortical interneuron develop

46 Finally, reducing SPARC gene dosage ameliorated the cardiomyopathy that develope

47 Therefore, decreased Npc1 gene dosage among two different mouse strains interacts

48 has given rise to highly variable Hodgkinia gene dosages among species.

49 hich conventional OPA1 diagnostics including gene dosage analyses were normal.

50 These data demonstrate that Lyn gene dosage and activity are critical for normal erythro

51 important mechanism in evolution, affecting gene dosage and allowing for the acquisition of new gene

52 ate organogenesis is critically sensitive to gene dosage and even subtle variations in the expression

53 iting, we show how multiple SVs that changed gene dosage and expression levels modified fruit flavor,

54 ppressors by broadly decreasing the resident gene dosage and expression.

55 global analyses of the relationship between gene dosage and expression.

56 spring, which directly correlates with Slxl1 gene dosage and gene expression levels.

57 ed sex chromosomes: compensation of X-linked gene dosage and modulation of heterochromatin.

58 ulsive seizures, and is dependent upon Celf4 gene dosage and mouse strain background.

59 f quantitative trait loci that may influence gene dosage and mutational frequency and provide mechani

60 s also suggest that miRNAs may modulate PKD1 gene dosage and play a role in the initiation of cystoge

61 Gene dosage and promoter hypomethylation affect the locu

62 s that gene product abundance is governed by gene dosage and that gene dosage responses are consisten

63 ber vascular development is sensitive to Tek gene dosage and the resulting decrease in angiopoietin-T

64 lopmental programs that depend critically on gene dosage and timing.

65 r, and its activity levels are controlled by gene dosage and transcriptional and post-translational m

66 important for maintaining genome stability, gene dosage, and epigenetic inheritance; however, the mo

67 cs to the effects of altered Tbx1 and Vegfr3 gene dosage, and we show that this likely results from a

68 To dissect cell type sensitive to Stat5 gene dosage, animals with Stat5 haplo-insufficiency in T

69 Changes in gene dosage are a major driver of cancer, known to be ca

70 mma2 genomic locus we show that reducing the gene dosage at postnatal days (P)13/14 but not P27/28 re

71 We also investigated the correlation between gene dosage at specific chromosomal locations and phenot

72 ntial loss/retention of miRNAs following the gene dosage balance rule.

73 oids, including maternal-paternal influence, gene dosage balance, cis- and/or trans-regulatory networ

74 osome inactivation, which equalizes X-linked gene dosage between male and female mammals.

75 ifferentiated sex chromosomes, imbalances in gene dosage between the sexes can affect overall organis

76 e X Chromosome in female mammals to equalize gene dosage between the sexes.

77 Mammals compensate for unequal X-linked gene dosages between the sexes by inactivating one X chr

78 ation of Thr(240) to Ala is lethal at normal gene dosage, but an increased copy number of this mutant

79 cbl mRNA in the ovary and that reducing cbl gene dosage by half rescues the dFmr1 oogenesis phenotyp

80 , and addressed potential effects of altered gene dosage by studying Ca(V)1.2 knockout heterozygotes.

81 d a low number of operator sites, increasing gene dosage can reduce exclusivity in response dynamics.

82 Knockdown mouse models, where gene dosages can be modulated, provide valuable insights

83 adic Parkinson's disease (PD), and increased gene dosage causes a severe, dominantly inherited form o

84 Gene dosage change is a mild perturbation that is a valu

85 ne regulation in TS and KS that transmit the gene dosage changes to the transcriptome.

86 refining the fitness benefits of aggregated gene dosage changes.

87 Gene dosage compensation adjusts the total Qrr1-4 sRNA p

88 onal bursts reveals a separate mechanism for gene dosage compensation after DNA replication that enab

89 one involving the sRNA-target HapR, promotes gene dosage compensation between the four qrr genes.

90 r factors are involved in the fine tuning of gene dosage compensation in neutrophils.

91 tively regulated as well as in the degree of gene dosage compensation.

92 es of the affected chromosomes, to show that gene-dosage compensation functions at >30% of amplified

93 to sex bias of autosomal versus Z chromosome genes, dosage compensation, and evolution of sex bias.

94 modifications needed for developmental rRNA gene dosage control.

95 ate how quantitative epistasis from modified gene dosage defines background dependencies.

96 Here, we discuss the importance of Nf1 gene dosage, delineate hematopoietic contributions to th

97 Furthermore, varying foraging gene dosage demonstrates a linear dose-response on these

98 The low-HFA trait was heritable and gene dosage dependent, with hemizygous lines showing int

99 onocyte population via a cell autonomous and gene-dosage dependent mechanism.

100 Rescue is gene-dosage dependent, with loss of even one allele of G

101 Biochemical analyses revealed Jak2V617F gene dosage-dependent activation of Stat5, Akt, and Erk

102 Mouse plasma PIP2 levels are apoA1 gene dosage-dependent and are >1 muM in apoA1 transgenic

103 ogenitors of all hematopoietic lineages in a gene dosage-dependent and cell-autonomous manner.

104 ent growth defect of the sec3-913 strain was gene dosage-dependent and suppressed by blocking the pro

105 ning transcription regulator 1 (Taz) exhibit gene dosage-dependent cardiac phenotypes, suggesting red

106 ereas the missense c.1781G>A lesion caused a gene dosage-dependent channel reduction at the cell memb

107 e PAM (Pam (Myh6-cKO/cKO)) are viable, but a gene dosage-dependent drop in atrial ANP and BNP content

108 The gene dosage-dependent function of SIRT1 in DNA repair an

109 ere we show that Crkl mutant embryos exhibit gene dosage-dependent growth restriction, and homozygous

110 knock-in animals, which develop an age- and gene dosage-dependent hypertrophic cardiomyopathy and he

111 Our results reveal the gene dosage-dependent in vivo functions of SIRT1 in skin

112 lling repression, we highlight a synergistic gene dosage-dependent interaction between Hesx1 and Tcf3

113 rgeted inactivation of the Tpm4 locus led to gene dosage-dependent macrothrombocytopenia in mice.

114 way effectors YAP and TAZ are required, in a gene dosage-dependent manner, for the proliferation and

115 abnormalities in the RPE in an age- and Cre gene dosage-dependent manner, which needs to be consider

116 nd2 is required for reporter activation in a gene dosage-dependent manner.

117 s in wild-type and Munc18c (-/+) islets in a gene dosage-dependent manner.

118 virus-induced hyperinflammatory disease in a gene dosage-dependent manner.

119 d inheritance causes CVMs, potentially via a gene dosage-dependent mechanism.

120 These mice exhibit an Ank3 gene dosage-dependent phenotype including behavior chang

121 gatively regulates endogenous Pum, producing gene dosage-dependent pum loss-of-function NMJ phenotype

122 iferation and differentiation in skin show a gene dosage-dependent requirement for the Erk1/2 MAPK ca

123 ntaining the SFA1 and CUP1 genes that confer gene dosage-dependent tolerance to formaldehyde and copp

124 Previous mouse studies show that p53 gene dosage determines susceptibility to GI syndrome dev

125 uld be a potential strategy to treat altered gene dosage diseases.

126 Thus, diminished 22q11.2 gene dosage disrupts cortical circuit development by mod

127 nd isogenic GAS mutants demonstrate that shp gene dosage does contribute to Rgg2/3 system induction,

128 and enter G2, but this response to increased gene dosage does not require H3K56Ac.

129 However, changes in gene dosage during sex-chromosome evolution are not expe

130 For the MRGCs, we found a gene dosage effect for Dscam, with the Dscam+/- retinas

131 en ba2 and ba1 demonstrates that ba1 shows a gene dosage effect in ba2 mutants, providing further evi

132 Molecular analysis confirmed a gene dosage effect of delta-catenin on Rho GTPase activi

133 is by melanocortin signalling, including the gene dosage effect of MC4R and the sustained effects of

134 We hypothesized a FOXN1 gene dosage effect on the function of thymic epithelial

135 These observations establish a FOXN1 gene dosage effect on thymic function and identify FOXN1

136 Given this gene dosage effect, FHL is not strictly recessive.

137 one functional Smad4 allele revealed a sharp gene dosage effect, suggesting the existence of a thresh

138 erozygous mutations in PRKN/PINK1 suggests a gene dosage effect.

139 had minimal to no iron loading, suggesting a gene dosage effect.

140 We found a gene-dosage effect on cognitive and motor function at 15

141 ata from obese human subjects, we observed a gene-dosage effect that links SORLA expression to obesit

142 rable genotype analyses also showed a strong gene-dosage effect with decreased survival and increased

143 llows us to determine whether sex chromosome gene dosage effects exist.

144 Increasing recognition of gene dosage effects in neurodevelopmental disorders prom

145 We tested phenotypic homogeneity and gene dosage effects in the mouse null alleles muted (Blo

146 the cortex and cerebellum to illustrate how gene dosage effects might contribute to divergence betwe

147 des an alternative approach to investigating gene dosage effects not possible in sexually propagated

148 Here we investigated the influence of gene dosage effects on adiposity through a CNV associati

149 Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 14

150 Beyond gene dosage effects on global brain metrics, we show tha

151 lyzed, or post-transcriptional regulation of gene dosage effects.

152 the CD45E613R mutation, manipulation of TLR9 gene dosage eliminates ANA in CD45E613R.BALB/c mice, but

153 The resulting mitotic defects, supported by gene dosage experiments and time-lapse microscopy of liv

154 Furthermore, gene-dosage experiments demonstrate that integrin alpha3

155 on for ASXL1 and EZH2 mutations or perturbed gene dosage for copy-number changes.

156 type 1A (CMT1A) is associated with increased gene dosage for PMP22.

157 nificantly decreased with a reduction of p53 gene dosage from 44% in Twsg1(-/-)p53(+/+) pups (N=675)

158 variation) to quantify genetic variation in gene dosage from allelic expression (AE) data in a popul

159 o infer the roles of functional promiscuity, gene dosage, gene duplication, point mutations, and sele

160 elic duplications-and that this variation in gene dosage generates abundant variation in gene express

161 lusion, perturbing Yan expression by varying gene dosage had no effect on cell fate transitions.

162 which organisms respond to changes in their gene dosage has long fascinated geneticists.

163 ving because of the differential effect that gene dosage has on the fitness of matrilineal and patril

164 The resulting imbalance in gene dosage has phenotypic consequences that are specifi

165 t preferential retention consistent with the gene dosage hypothesis, but a third gene family, includi

166 ention of clock genes is consistent with the gene dosage hypothesis, which predicts preferential rete

167 The mechanisms by which gene dosage imbalance affects gene expression and phenot

168 ptionally suppressing the adverse effects of gene dosage imbalance and harmful FBX alleles that arise

169 This condition results in gene dosage imbalance and often causes severe phenotypic

170 close to the terminus, leads to a transient gene dosage imbalance during chromosome replication.

171 However, the consequences of the underlying gene-dosage imbalance on adult tissues remain poorly und

172 A reduction of Hand2 and Shh gene dosage improves the integrity of anterior limb stru

173 been extensively studied, the role of Stat5 gene dosage in contact allergies has not been addressed.

174 Reduced beta3 gene dosage in elastin-null mice mitigates pathological

175 a knock-in model of ALS that best replicates gene dosage in familial ALS (fALS).

176 t that a combined reduction of PAX9 and MSX1 gene dosage in humans may increase the risk for orofacia

177 c imprinting is implicated in the control of gene dosage in neurogenic niches.

178 hough this underscores the importance of Pax gene dosage in normal development, how differential leve

179 ression of mutant and wild-type PS1 at equal gene dosage in presenilin-deficient mouse embryo fibrobl

180 cated allele of TCF3 and a reduction of PAX5 gene dosage in TCF3-HLF ALL suggest cooperation within a

181 Lowered Neurog3 gene dosage in the developing pancreatic epithelium redu

182 Reduction of TGFbeta2 gene dosage in the RA receptor-deficient background rest

183 We found that the lower fis gene dosage in the strains with terminus-proximal dusB-f

184 Modulating Kdm5c gene dosage in XX female mice to levels that are normall

185 us epilepsy (PME) in humans, and its reduced gene dosage increases sensitivity to induced seizure in

186 NPC1 mouse model (Npc1) with decreased Npc1 gene dosage independently supported these results by sug

187 autosomal dominant, autosomal recessive, and gene-dosage interactions.

188 +/-) mice and determined that decreased Npc1 gene dosage interacts with a high-fat diet to promote we

189 Gene dosage is a key defining factor to understand cance

190 RAI1 gene dosage is associated with the PTLS phenotypes.

191 sion in sympathetic neurons, even when Hand2 gene dosage is concurrently reduced by half.

192 The resulting imbalance in gene dosage is corrected by increased expression from th

193 Bim gene dosage is critical in modulating nephron progenitor

194 We conclude that Eklf gene dosage is crucial for regulating the surface phenot

195 In planta, increasing NEDD8 gene dosage is sufficient to suppress den1 mutant phenot

196 Interestingly, changes in sprouty gene dosage led to a graded change in incisor number, wi

197 Together, these results reveal that RP gene dosage limits the differentiation, not the self-ren

198 type 1 neuropathy caused by reduced P0 (MPZ) gene dosage, macrophage blockade causes an improved pres

199 ent study, we examine zebrafish MTMR14 using gene dosage manipulation.

200 lture and mice in which Perk was impaired or gene dosage modulated.

201 We investigated the effect of Stat5 gene dosage modulation in contact allergies using CHS in

202 Here, we reveal that gene dosage of a master transcription factor regulates c

203 Here, we manipulate the gene dosage of a signaling molecule, Fgf8, a critical re

204 In addition, we examined the role of gene dosage of beta-arr2 in polymicrobial sepsis.

205 g dependence of this social behavior on TSC2 gene dosage of both parties involved.

206 Sdf1a and (iii) buffers against variation in gene dosage of chemokine signaling components to ensure

207 Decreasing the gene dosage of Dl enhanced the multiple-R8 phenotype, wh

208 -)/(-); Spry2(-)/(-) embryos by reducing the gene dosage of Fgf10.

209 Additionally, reducing the gene dosage of Fgf8 rescued pharyngeal arch artery defec

210 Furthermore, reducing the gene dosage of Hsc70 also attenuated CLN4 phenotypes.

211 in the early Drosophila embryo is robust to gene dosage of its locally produced regulator, WntD, it

212 this compound inheritance resulted in a TBX6 gene dosage of less than haploinsufficiency (i.e. <50%)

213 Gene expression and gene dosage of MACC1, hepatocyte growth factor (HGF), an

214 Increasing gene dosage of more than half of the missense alleles fu

215 Here we show that reduced gene dosage of NR4A1 and NR4A3 in hypoallelic (NR4A1(+/-

216 Using mice with reduced gene dosage of p190rhogap, a cytoskeletal regulatory pro

217 tructural alteration that increases both the gene dosage of PD-1 ligands and their induction by JAK2,

218 The correct gene dosage of PMP22 is critical; a duplication of PMP22

219 Finally, we showed that gene dosage of Prnp regulates Abeta-induced Fyn/tau alte

220 Yet, the gene dosage of Rex1 is very critical for the survival of

221 Reduced gene dosage of ribosomal protein subunits has been impli

222 erated cocaine sensitization, as did reduced gene dosage of the Arg substrate, p190RhoGAP.

223 interferon activation, likely via increased gene dosage of the four interferon receptors encoded on

224 show that an approximately 50% reduction in gene dosage of the mixed lineage leukemia 3 (MLL3) gene,

225 We addressed this question by reducing gene dosage of the pDC-specific transcription factor E2-

226 t Jag1-induced signaling is sensitive to the gene dosage of the protein O-glucosyltransferase Rumi.

227 in CDH1-m11 cells is strikingly sensitive to gene dosage of the stoichiometric Cdh1 inhibitor ACM1.

228 ngineered strains, we show that the relative gene dosage of this variant versus canonical H2A control

229 Hence, increased gene dosage of VAMP7, and thus higher expression levels

230 Reducing the gene dosage of Wt1 or Sf1 in Cited2 mutant gonads was su

231 This complex mutation reduces gene dosage of ~63 genes in humans.

232 penetrant type of autism linked to increased gene dosages of UBE3A, which encodes a ubiquitin ligase

233 0.001), besides an influence of HLA-DQB1*02 gene dosage on clinical presentation and severity of his

234 e directions with more widespread effects of gene dosage on cortical surface area.

235 ermine the effects of reduced Smad3 or CD2AP gene dosage on podocyte apoptosis and proteinuria charac

236 Investigations into the effect of parental gene dosage on seed development have revealed that MADS

237 nvestigated the effects of altering the Sox9 gene dosage on the severity of liver disease in an ALGS

238 number of operator sites in a promoter, and gene dosage - on decision-making behavior.

239 Reducing the Fgf8 gene dosage only partially rescued defects in the glosso

240 mosome 21 or the rob(15;21)c chromosome with gene dosage optimized for leukaemic potential, showing c

241 Increasing APP gene dosage or expression has been shown to cause famili

242 itness of the involved organisms by doubling gene dosage or neofunctionalization, it may also result

243 Reducing Wnd gene dosage or overexpressing its antagonist highwire pa

244 ng that additional genetic factors, possibly gene dosage, or environmental factors are responsible fo

245 e female X chromosome is silenced to achieve gene dosage parity between the sexes.

246 strated previously that decreased HIF-1alpha gene dosage partially rescues both cardiac and lens defe

247 Gene dosage plays a critical role in a range of cellular

248 MicroRNAs (miRNAs) modulate gene dosage posttranscriptionally, and among these, the

249 Npc1+/- mice to determine if decreased Npc1 gene dosage predisposes to metabolic features associated

250 zation (aCGH), increasingly offer definitive gene dosage profiles in clinical samples.

251 Thus, increased gene dosage rather than specificity divergence of the CE

252 ice, we found that reduced ribosomal protein gene dosage recapitulates cardinal features of the 5q- s

253 Diminished 22q11 gene dosage reduces long-distance projections, limits ax

254 genomic imprinting emerged as a monoallelic gene dosage regulatory mechanism of tightly interconnect

255 Altered gene dosage relationships are believed to contribute to

256 nscriptionally silenced to equalize X-linked gene dosage relative to XY males, a process termed X chr

257 rocess that is required to equalise X-linked gene dosage relative to XY males.

258 Activating Wnt signaling and reducing FGF gene dosage rescues gangliogenesis and innervation in bo

259 bundance is governed by gene dosage and that gene dosage responses are consistent for interacting gen

260 response to genome doubling, and individual gene dosage responses are highly variable in all three a

261 ors) to determine if expression patterns and gene dosage responses at the level of transcription are

262 Gene dosage responses, however, have rarely been quantif

263 An increase in histone gene dosage resulted in enhanced DNA damage sensitivity,

264 ry necessary for growth in woody tissues and gene dosage resulting in gene expression reconfiguration

265 ute to Rgg2/3 system induction, as decreased gene dosage results in decreased or absent induction.

266 (Asteraceae; sunflower family) [6] and with gene dosage sensitivity [8].

267 t to elucidate in vivo due to differences in gene dosage sensitivity between mice and humans.

268 This highlights the gene dosage sensitivity of the pathway's effect on Sry l

269 tly expressed human genes, indicating global gene dosage sensitivity.

270 el that involves more fluid concepts such as gene dosage-sensitivity and tissue specificity.

271 t mCNVs give rise to most human variation in gene dosage-seven times the combined contribution of del

272 Moreover, increased Rrm2 gene dosage significantly extends the life span of ATR m

273 hway abnormalities were either the result of gene dosage specific effects or the consequence of a glo

274 Taken together, the results show how gene dosage studies provide critical insights into the a

275 We used this model to perform a gene dosage study exploring the effects of the DeltaE mu

276 Increased DYRK1A gene dosage, such as occurs in Down syndrome, is known t

277 hese are alterations in gene products and in gene dosage that affect development and reproductive suc

278 large degree been focused on the changes in gene dosage that they generate and has neglected the eff

279 inactivation evolved to solve the problem of gene dosage, the purpose of genomic imprinting remains c

280 We found that diminished 22q11.2 gene dosage-the primary genetic lesion in 22q11.2 deleti

281 Altering gene dosage through variation in gene copy number is a p

282 In order for gene dosage to be visible to natural selection, there mu

283 netic signaling pathways interact with 22q11 gene dosage to modulate the severity of cranial or cardi

284 Selection on relative gene dosage (to maintain proper stoichiometry among inte

285 that there is selection on gene copy number (gene dosage) to preserve the stoichiometric balance amon

286 st analysis of small RNA expression in plant gene dosage variants.

287 Gene dosage variation and the associated changes in gene

288 Finally, we examined the impact of gene dosage variation triggered by a CNV spanning the SE

289 In contrast, gene dosage varied negatively with mean cortical thickne

290 22q11.2 gene dosage varied positively with intracranial volume,

291 ing cells, but ERAD became relevant when the gene dosage was affected, as demonstrated in heterozygou

292 sponse to changes in Ca(2)(+) channel Cav1.2 gene dosage was studied in adult mice.

293 By genetically manipulating APOE gene dosage, we demonstrate that decreasing human apoE l

294 g pathways that are susceptible to decreased gene dosage, we performed a genome-wide screen for haplo

295 NA) silencing (nucleolar dominance) and rRNA gene dosage, we studied a recently emerged (within the l

296 nes, suggests highly polygenic properties of gene dosage with respect to autism risk and IQ loss.

297 o X chromosomes in order to balance X-linked gene dosage with their male counterparts.

298 their two X chromosomes to equalize X-linked gene dosage with XY males in a process referred to as X-

299 ry views imprinting as a mechanism to change gene dosage, with imprinting evolving because of the dif

300 ated whether modulating adrenomedullin (Adm) gene dosage within tumor cells affects lymphangiogenesis