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1 etected (a 2x decrease or a 1.5x increase in gene dosage).
2 g an isogenic iPSC line with normalized SNCA gene dosage.
3 s state, demonstrating a tight dependence on gene dosage.
4 methylation states in both models of reduced gene dosage.
5 uced 50% in several tissues, consistent with gene dosage.
6 n PKD involving miRNAs and regulation of PKD gene dosage.
7 sification rather than by the maintenance of gene dosage.
8 hat is sensitive to both genetic context and gene dosage.
9 lts were obtained with MET and HGF, nor with gene dosage.
10 ncreased expression of trisomic genes due to gene dosage.
11 ozygotes, indicating sensitivity to Tra2beta gene dosage.
12 usage, which was corrected by reducing Fgf9 gene dosage.
13 ly alter DNA content, chromosome number, and gene dosage.
14 uced TNF-R1 shedding was dependent on the A8 gene dosage.
15 ram and regulated by a balanced SOX17-BLIMP1 gene dosage.
16 ighly sensitive to genetic background and to gene dosage.
17 and p53 are consistent across cell types and gene dosage.
18 pression changes by increasing or decreasing gene dosage.
19 stral functions and selection for changes in gene dosage.
20 nheritance and susceptibility as they affect gene dosage.
21 show altered expression even with increased gene dosage.
22 pment toward the colon as a function of Muc2 gene dosage.
23 a Dyrk1a inhibitor or by normalizing Dyrk1a gene dosage.
24 and accurate method for detecting changes in gene dosage.
25 on are consistent with selection on relative gene dosage.
26 lization, whereas others focus on sharing of gene dosage.
27 ted, suggesting combined roles in regulating gene dosage.
28 otype can be largely rescued by reducing Ret gene dosage.
29 ing levels of aneuploidy with decreasing Tau gene dosage.
30 fect that is suppressed by reduction in Wnt5 gene dosage.
31 lities, which may depend on both age and Cre gene dosage.
32 ron acts as a backup to maintain appropriate gene dosages.
33 n forces: selection on relative and absolute gene dosages.
34 nts (33A and 33B) with widely different rRNA gene dosages.
35 come used widely to study DS, the effects of gene dosage abnormalities, and the effect on the basic b
37 Our results indicate that subtle changes in gene dosage across a chromosome can have significant phe
40 us and mosaic mutant mice with reduced Robo2 gene dosage also exhibit striking CAKUT-VUR phenotypes.
42 nnels and that increased and decreased shn-1 gene dosage alter L-channel current and activity-induced
43 epresent complete deletions but do represent gene-dosage alterations, impact cancer cell functions?
51 important mechanism in evolution, affecting gene dosage and allowing for the acquisition of new gene
52 in are strongly suppressed by increased drp1 gene dosage and by heterozygous loss-of-function mutatio
53 ate organogenesis is critically sensitive to gene dosage and even subtle variations in the expression
58 f quantitative trait loci that may influence gene dosage and mutational frequency and provide mechani
59 s also suggest that miRNAs may modulate PKD1 gene dosage and play a role in the initiation of cystoge
60 signaling in the liver is sensitive to Jag1 gene dosage and suggest a role for the Notch pathway in
61 ber vascular development is sensitive to Tek gene dosage and the resulting decrease in angiopoietin-T
63 r, and its activity levels are controlled by gene dosage and transcriptional and post-translational m
64 important for maintaining genome stability, gene dosage, and epigenetic inheritance; however, the mo
67 mma2 genomic locus we show that reducing the gene dosage at postnatal days (P)13/14 but not P27/28 re
69 oids, including maternal-paternal influence, gene dosage balance, cis- and/or trans-regulatory networ
71 ifferentiated sex chromosomes, imbalances in gene dosage between the sexes can affect overall organis
75 ation of Thr(240) to Ala is lethal at normal gene dosage, but an increased copy number of this mutant
76 cbl mRNA in the ovary and that reducing cbl gene dosage by half rescues the dFmr1 oogenesis phenotyp
78 , and addressed potential effects of altered gene dosage by studying Ca(V)1.2 knockout heterozygotes.
79 changes are all mechanisms by which altered gene dosage can cause the failure of neuronal homeostasi
81 adic Parkinson's disease (PD), and increased gene dosage causes a severe, dominantly inherited form o
85 onal bursts reveals a separate mechanism for gene dosage compensation after DNA replication that enab
86 one involving the sRNA-target HapR, promotes gene dosage compensation between the four qrr genes.
90 es of the affected chromosomes, to show that gene-dosage compensation functions at >30% of amplified
91 to sex bias of autosomal versus Z chromosome genes, dosage compensation, and evolution of sex bias.
95 results suggest that the effects of MIR2 are gene dosage dependent and that low levels of this viral
103 ent growth defect of the sec3-913 strain was gene dosage-dependent and suppressed by blocking the pro
104 ning transcription regulator 1 (Taz) exhibit gene dosage-dependent cardiac phenotypes, suggesting red
105 ereas the missense c.1781G>A lesion caused a gene dosage-dependent channel reduction at the cell memb
107 ere we show that Crkl mutant embryos exhibit gene dosage-dependent growth restriction, and homozygous
108 knock-in animals, which develop an age- and gene dosage-dependent hypertrophic cardiomyopathy and he
110 lling repression, we highlight a synergistic gene dosage-dependent interaction between Hesx1 and Tcf3
111 rgeted inactivation of the Tpm4 locus led to gene dosage-dependent macrothrombocytopenia in mice.
112 way effectors YAP and TAZ are required, in a gene dosage-dependent manner, for the proliferation and
113 abnormalities in the RPE in an age- and Cre gene dosage-dependent manner, which needs to be consider
118 gatively regulates endogenous Pum, producing gene dosage-dependent pum loss-of-function NMJ phenotype
119 iferation and differentiation in skin show a gene dosage-dependent requirement for the Erk1/2 MAPK ca
120 ntaining the SFA1 and CUP1 genes that confer gene dosage-dependent tolerance to formaldehyde and copp
125 nd isogenic GAS mutants demonstrate that shp gene dosage does contribute to Rgg2/3 system induction,
126 sults, we conclude that selection for higher gene dosage does not play a major role in driving the fi
130 is by melanocortin signalling, including the gene dosage effect of MC4R and the sustained effects of
133 one functional Smad4 allele revealed a sharp gene dosage effect, suggesting the existence of a thresh
137 ata from obese human subjects, we observed a gene-dosage effect that links SORLA expression to obesit
138 rable genotype analyses also showed a strong gene-dosage effect with decreased survival and increased
140 o improve our understanding of chromosome 21 gene dosage effects in human hematologic malignancies.
143 the cortex and cerebellum to illustrate how gene dosage effects might contribute to divergence betwe
144 des an alternative approach to investigating gene dosage effects not possible in sexually propagated
146 Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 14
148 nced infection in trans is presumably due to gene dosage effects since their presence on plasmids inc
149 embryonic brain samples having the smallest gene dosage effects, and adult gonadal tissue having the
151 the CD45E613R mutation, manipulation of TLR9 gene dosage eliminates ANA in CD45E613R.BALB/c mice, but
152 The resulting mitotic defects, supported by gene dosage experiments and time-lapse microscopy of liv
156 nificantly decreased with a reduction of p53 gene dosage from 44% in Twsg1(-/-)p53(+/+) pups (N=675)
157 o infer the roles of functional promiscuity, gene dosage, gene duplication, point mutations, and sele
158 elic duplications-and that this variation in gene dosage generates abundant variation in gene express
159 lusion, perturbing Yan expression by varying gene dosage had no effect on cell fate transitions.
161 ving because of the differential effect that gene dosage has on the fitness of matrilineal and patril
163 lection for increased gene dosage (i.e., the gene dosage hypothesis), because haploinsufficient genes
164 t preferential retention consistent with the gene dosage hypothesis, but a third gene family, includi
165 ention of clock genes is consistent with the gene dosage hypothesis, which predicts preferential rete
166 y driven by positive selection for increased gene dosage (i.e., the gene dosage hypothesis), because
168 ptionally suppressing the adverse effects of gene dosage imbalance and harmful FBX alleles that arise
170 close to the terminus, leads to a transient gene dosage imbalance during chromosome replication.
171 hat PtdIns(4,5)P(2) dyshomeostasis caused by gene dosage imbalance for Synj1 may contribute to brain
172 However, the consequences of the underlying gene-dosage imbalance on adult tissues remain poorly und
173 hromosomes leads to the potential problem of gene dosage imbalances between autosomes and sex chromos
174 er variations in the human genome leading to gene dosage imbalances comprise approximately 12% of the
177 been extensively studied, the role of Stat5 gene dosage in contact allergies has not been addressed.
179 t that a combined reduction of PAX9 and MSX1 gene dosage in humans may increase the risk for orofacia
181 hough this underscores the importance of Pax gene dosage in normal development, how differential leve
182 Our analysis of mice with 50%-reduced Sox9 gene dosage in pancreatic progenitors reveals endocrine-
183 ression of mutant and wild-type PS1 at equal gene dosage in presenilin-deficient mouse embryo fibrobl
184 cated allele of TCF3 and a reduction of PAX5 gene dosage in TCF3-HLF ALL suggest cooperation within a
188 us epilepsy (PME) in humans, and its reduced gene dosage increases sensitivity to induced seizure in
189 NPC1 mouse model (Npc1) with decreased Npc1 gene dosage independently supported these results by sug
190 urely, in a manner that correlated with Ccr2 gene dosage, indicating that absence of early microglial
192 +/-) mice and determined that decreased Npc1 gene dosage interacts with a high-fat diet to promote we
201 oarray (SNP-chip) is a useful tool to define gene dosage levels over the whole genome, allowing preci
203 type 1 neuropathy caused by reduced P0 (MPZ) gene dosage, macrophage blockade causes an improved pres
210 Sdf1a and (iii) buffers against variation in gene dosage of chemokine signaling components to ensure
218 tructural alteration that increases both the gene dosage of PD-1 ligands and their induction by JAK2,
225 ave some method to counteract the effects of gene dosage of the dominant sex chromosome in males and
226 interferon activation, likely via increased gene dosage of the four interferon receptors encoded on
227 show that an approximately 50% reduction in gene dosage of the mixed lineage leukemia 3 (MLL3) gene,
229 t Jag1-induced signaling is sensitive to the gene dosage of the protein O-glucosyltransferase Rumi.
230 esulting from decreased Arg levels, reducing gene dosage of the Rho effector ROCKII can suppress the
231 in CDH1-m11 cells is strikingly sensitive to gene dosage of the stoichiometric Cdh1 inhibitor ACM1.
234 efungin stem from the finding that increased gene dosage of yeast AdoMet synthase plus cap guanine-N7
235 penetrant type of autism linked to increased gene dosages of UBE3A, which encodes a ubiquitin ligase
237 dentify differential effects of altered Hus1 gene dosage on genome maintenance during in vitro cultur
238 ermine the effects of reduced Smad3 or CD2AP gene dosage on podocyte apoptosis and proteinuria charac
239 Investigations into the effect of parental gene dosage on seed development have revealed that MADS
241 mosome 21 or the rob(15;21)c chromosome with gene dosage optimized for leukaemic potential, showing c
243 itness of the involved organisms by doubling gene dosage or neofunctionalization, it may also result
245 ng that additional genetic factors, possibly gene dosage, or environmental factors are responsible fo
248 strated previously that decreased HIF-1alpha gene dosage partially rescues both cardiac and lens defe
251 Npc1+/- mice to determine if decreased Npc1 gene dosage predisposes to metabolic features associated
254 ice, we found that reduced ribosomal protein gene dosage recapitulates cardinal features of the 5q- s
255 genomic imprinting emerged as a monoallelic gene dosage regulatory mechanism of tightly interconnect
257 nscriptionally silenced to equalize X-linked gene dosage relative to XY males, a process termed X chr
260 nstrate that a reduction of cyclooxygenase 2 gene dosage rescued the ovarian aging phenotype of the W
261 Activating Wnt signaling and reducing FGF gene dosage rescues gangliogenesis and innervation in bo
262 ors) to determine if expression patterns and gene dosage responses at the level of transcription are
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.
271 t mCNVs give rise to most human variation in gene dosage-seven times the combined contribution of del
274 hway abnormalities were either the result of gene dosage specific effects or the consequence of a glo
278 hese are alterations in gene products and in gene dosage that affect development and reproductive suc
279 large degree been focused on the changes in gene dosage that they generate and has neglected the eff
280 inactivation evolved to solve the problem of gene dosage, the purpose of genomic imprinting remains c
282 hat there are developmental process-specific gene dosage thresholds beyond which the phenotype worsen
284 e progenitors is insensitive to reduced Sox9 gene dosage, thus explaining the normal organ size at bi
286 netic signaling pathways interact with 22q11 gene dosage to modulate the severity of cranial or cardi
291 ing cells, but ERAD became relevant when the gene dosage was affected, as demonstrated in heterozygou
293 As the regulatory loci result from extra gene dosage, we call them copy number expression quantit
295 g pathways that are susceptible to decreased gene dosage, we performed a genome-wide screen for haplo
296 NA) silencing (nucleolar dominance) and rRNA gene dosage, we studied a recently emerged (within the l
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
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