ライフサイエンスコーパス: trisomic

1 totic recombination, and two chromosomes are trisomic.

2 1 (DSCR1) gene, identified at the conserved trisomic 21 region in those patients, encodes a calcineu

3 The hypocellularity seen in the trisomic adult hippocampus originates early in developme

4 the precise and efficient identification of trisomic and disomic animals at any developmental stage

5 s might contribute to divergence between the trisomic and euploid brains.

6 oid cells, we used microarrays to assess the trisomic and euploid cerebella.

7 t and increased facial dysmorphology in both trisomic and euploid mice.

8 Trisomic and euploid transcriptomes were robustly distin

9 Trisomic and monosomic (aneuploid) embryos account for a

10 Ms1Rhr mouse models that are, respectively, trisomic and monosomic for this region.

11 ed from the distribution of the frequency of trisomics and uniparental disomics (UPDs) among all litt

12 elective copy number restoration of Brwd1 in trisomic animals rescued deficits in hippocampal LTP, co

13 A second area of dysfunction in the trisomic animals, heightened reactivity to committing an

14 0-40% of the offspring of Ts65Dn mothers are trisomic at weaning.

15 The ability of XIST to dosage compensate a trisomic autosome presents unique experimental opportuni

16 on alleles of either Creld1 or Hey2 onto the trisomic background caused a significant increase in the

17 To test the impact of MCS on trisomic BFCNs, we performed laser capture microdissecti

18 65Dn) to study the cellular landscape of the trisomic brain during early development and maturation.

19 network activity and circuit development in trisomic brains.

20 omes carry the mutated allele and whether in trisomic cases the mutation is present in one, two, or t

21 We found that nearly all trisomic cell lines grew poorly in vitro and as xenograf

22 We found that across 13 different trisomic cell lines, 12 trisomies suppressed invasivenes

23 However, following prolonged growth, trisomic cells acquired additional chromosomal alteratio

24 rgeted therapies selective to pre-neoplastic trisomic cells are non-existent.

25 We found that trisomic cells displayed higher rates of chromosome mis-

26 ing, definitive hematopoiesis, we found that trisomic cells of hES, iPS, or isogenic origins exhibite

27 The chromosomal rearrangements in trisomic cells provide growth advantage compared to cell

28 ift, whereas deletion of one HMGN1 allele in trisomic cells restored normal gene expression.

29 ts indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin en

30 Using EGFP as a marker for trisomic cells, flow cytometry analyses of peripheral bl

31 In trisomic cells, the MT-I/II immunoblot densities were no

32 n of FCGRT mRNA by ~ 60% in both diploid and trisomic cells.

33 overall position of LADs was not altered in trisomic cells; however, the H3K4me3 profile of the tris

34 The human DYRK1A gene is located on trisomic chromosome 21 in Down syndrome (DS) patients, l

35 /-2 SD misregulated genes did not map to the trisomic chromosome and significant misregulation was mo

36 grouped by chromosomal location the relevant trisomic chromosome could be clearly identified as showi

37 subtle primary upregulation of genes on the trisomic chromosome resulting in a secondary, generalize

38 The average level of transcription on the trisomic chromosome was increased only approximately 1.1

39 the average transcriptional activity of the trisomic chromosome.

40 ogy of these disorders may be located on the trisomic chromosome.

41 d, as well as the crossover locations on the trisomic chromosome.

42 As expected, trisomic chromosomes were highly associated.

43 en by a gene dosage mechanism as a result of trisomic chromosomes.

44 n in that similar expression occurred in the trisomic compared with the diploid control.

45 t evidence from studies of human oocytes and trisomic conceptions and from studies in model organisms

46 is association reflects an increased rate of trisomic conceptions due to anomalies on the X chromosom

47 presumably is due to selection against male trisomic conceptions.

48 vated rates of infertility, miscarriage, and trisomic conceptions.

49 ogs has come from genetic mapping studies of trisomic conceptuses, so the incidence of this defect an

50 observed in Dp(11)17/+ mice, despite altered trisomic copy number of the other 18 genes present in th

51 In euploid, but not trisomic cortical cultures, kainic acid, trans-(+/-)-ACP

52 thelia in vivo than their otherwise isogenic trisomic counterparts, but in vitro hematopoietic differ

53 s to call the genotypes for both disomic and trisomic data.

54 s that can accurately determine genotypes in trisomic DNA samples are expensive, require specialized

55 an alternative to determine SNP genotypes in trisomic DNA samples for subsequent association studies

56 h DS may be rescued postnatally by targeting trisomic Dyrk1a.

57 Despite these differences, the primary Mmu16 trisomic effects were highly conserved in both models, r

58 ference in the connection between normal and trisomic embryos at the stage of 20 to 25 somites, but t

59 Consequently, the trisomic embryos show incomplete formation of both the a

60 In most trisomic embryos, the connection with the mediastinal me

61 In addition, in the majority of trisomic embryos, the right pulmonary ridge (the spina v

62 older uterus negatively selects the less fit trisomic embryos.

63 Using partially trisomic ES cells, we map this effect to a three-gene se

64 In trisomic females the a-priori probability for trisomy is

65 n mechanisms we investigated transmission in trisomic females, using data from mouse models and from

66 Normal and trisomic fetuses from an Rb(11.16)2H/Rb(16.17)7Bnr x C57

67 c cells; however, the H3K4me3 profile of the trisomic fibroblasts was modified and accurately followe

68 Ts65Dn mice are trisomic for 104 orthologs of Hsa21 genes and are the mo

69 Here we show that in Ts65Dn mice, which are trisomic for 132 genes homologous to genes on human chro

70 on density were obtained in Dp(16)1Yey mice, trisomic for 140 chromosome 21 orthologs; thus, prenatal

71 eing monosomic from 15pter through SNRPN and trisomic for 14pter to 14q11.2.

72 The Ts1Rhr mouse model is trisomic for 33 genes (the "Down syndrome critical regio

73 Maize plants that are trisomic for 90% of the short arm of chromosome 5 and mo

74 changes, we examined Ts1Cje mice, which are trisomic for a completely overlapping but smaller segmen

75 cause Ts65Dn and Ts1Cje mice are segmentally trisomic for a region of mouse chromosome 16, they genet

76 phenotypes, we examined Ts1Rhr mice that are trisomic for a small subset of the genes triplicated in

77 model of Down syndrome (DS) is functionally trisomic for approximately 120 human chromosome 21 (HSA2

78 ost widely used model for Down syndrome, are trisomic for approximately 56.5% of the human chromosome

79 n primary mouse embryonic fibroblasts (MEFs) trisomic for chromosome 1, 13, 16, or 19.

80 ted from other ES cell lines were invariably trisomic for chromosome 11, which carries the Stat3 locu

81 Mice trisomic for chromosome 13 have also been shown to displ

82 chromosome 16 was obtained when individuals trisomic for chromosome 16 were found to transmit three

83 Rfp-Y became apparent in studies of chickens trisomic for chromosome 16 when it was noted that the in

84 Furthermore, all CAI-4 strains tested were trisomic for chromosome 2 although this trisomy appears

85 type data for 282 trios that include a child trisomic for chromosome 21.

86 the 21 isolates, with multiple strains being trisomic for Chromosome 4 or Chromosome 7.

87 by using FISH in a sorghum cytogenetic stock trisomic for chromosome I (denoted It), and a BAC associ

88 e probes is demonstrated by identifying mice trisomic for distal Chr 16 using FISH analysis of interp

89 People with Down syndrome (DS), who are trisomic for Hsa21, are predisposed to acute megakaryobl

90 schromosomic mouse model of Down syndrome is trisomic for many Hsa21 genes including Hspa13 and follo

91 rome (DS) can be modeled in mice segmentally trisomic for mouse chromosome 16.

92 sis of Ts65Dn mice, a DS mouse model that is trisomic for orthologs of 50 genes trisomic in the Tc1 p

93 Ts65Dn mice are trisomic for orthologs of about half of the genes on hum

94 The Ts65Dn mouse is segmentally trisomic for the distal 12-15 Mb of mouse chromosome 16,

95 The Tc1 strain is trisomic for the majority of genes that cause phenotypes

96 ression via RNA sequencing was conducted for trisomics for the left arm of chromosome 2 (2L) and comp

97 maize leads to its breakage and formation of trisomic fragments called neochromosomes.

98 s with Down syndrome (DS), but the causative trisomic gene and a therapeutic approach to rescue these

99 Our results suggest that trisomic gene content and allelic differences in trisomi

100 Comparison of trisomic gene expression at the protein level with previ

101 -(Y)-phosphorylation regulated kinase 1A), a trisomic gene found in most humans with DS and mouse mod

102 evel, much less is known about expression of trisomic genes at the protein level.

103 e 21 (HSA21) and the increased expression of trisomic genes due to gene dosage.

104 The 33 trisomic genes in Ts1Rhr represent a "DS critical region

105 Of the 104 trisomic genes in Ts65Dn mice, Aml1/Runx1 attracts consi

106 Unravelling the pathogenic role of trisomic genes on human chromosome 21 and the genotype-p

107 rmore, through a functional screening of the trisomic genes, we demonstrated that DYRK1A, which encod

108 isorder resulting from the overexpression of trisomic genes.

109 ing an interaction between the modifiers and trisomic genes.

110 rocedure that can determine SNP genotypes in trisomic genomic DNA samples in a simple and cost-effect

111 identified the correct SNP genotypes for the trisomic genomic DNA samples tested, and thus provides a

112 Calling trisomic genotypes is a more complicated problem, and th

113 Purified cultures of trisomic granule cell precursors show a reduced but dose

114 non-coding elements to genes in disomic and trisomic HSCs using 10X multiome data.

115 y, even for large chromosomes that are often trisomic in cancer, does not confer a significantly elev

116 ithin the 1.5-Mb region deleted in VCFS/DGS, trisomic in der(22) syndrome and tetrasomic in CES.

117 nes on chromosome 21, the chromosome that is trisomic in individuals with DS, cause this predispositi

118 Genes for 12 of these proteins are trisomic in the Tc1 mouse model of DS, but only SIM2 and

119 l that is trisomic for orthologs of 50 genes trisomic in the Tc1 plus an additional 38 HSA21 ortholog

120 Genes for eight of the 15 proteins are trisomic in the Ts65Dn mouse model of DS, but only ZNF29

121 pulations in which one of the parents of the trisomic individual is unavailable for genotyping.

122 y data using high density SNP markers from a trisomic individual or product of conception and one par

123 d is one of only three chromosomes for which trisomic individuals survive to term.

124 d in the literature is that of genotyping of trisomic individuals, such as individuals with Down synd

125 s because the endosperm displays complicated trisomic inheritance and represents a younger generation

126 models require modification to consider the trisomic inheritance of the endosperm and the generation

127 In all four trisomic lines, proliferation was impaired and metabolic

128 identified in both chromosomally normal and trisomic live births: among normal newborns there is a s

129 nce interval -0.18 to 2.10) among women with trisomic losses than it was among women with chromosomal

130 As inbred trisomic mice also exhibit variable phenotypes, we furth

131 lar cells that have survived to adulthood in trisomic mice are equivalent to euploid cells, we used m

132 Videotape data revealed that the trisomic mice attended less than controls during the per

133 antation did not elicit cognitive changes in trisomic mice either neonatally or in adulthood.

134 monstrated deficit in cerebellar function in trisomic mice exacerbates the problem of discerning how

135 By contrast, trisomic mice exhibited poor memory abilities and disord

136 The proportion of trisomic mice per litter decreases with age of the Ts65D

137 Similarly, compared to euploid, P6 trisomic mice showed an 18% reduction in mitotic cells i

138 During rest, trisomic mice showed increased theta oscillations and cr

139 els post-gavage were significantly higher in trisomic mice than in euploid mice.

140 ssion within the septohippocampal circuit of trisomic mice through normalization of principally the c

141 Systemic treatment of newborn trisomic mice with a small molecule agonist of Hedgehog

142 s paralleled by increased BDNF expression in trisomic mice, we investigated the effectiveness of a BD

143 ulted in growth deficits in both euploid and trisomic mice.

144 ticity and restored cognitive performance in trisomic mice.

145 n individual with Down syndrome and brain of trisomic mice.

146 and neuregulin signaling were identified in trisomic mice.

147 Therefore, a partially trisomic mouse (Ts65Dn) that possesses a triplication of

148 patial transcriptomics on a well-established trisomic mouse model (Ts65Dn) to study the cellular land

149 ng cognitive benefits in the Ts65Dn mouse, a trisomic mouse model of Down syndrome and Alzheimer's di

150 To generate a more complete trisomic mouse model of Down syndrome, we have establish

151 The Ts65Dn trisomic mouse model recapitulates both cognitive and mo

152 t the time of septohippocampal deficits in a trisomic mouse model shed light on a vulnerable circuit

153 se of chromosome engineering to generate new trisomic mouse models and large-scale studies of genotyp

154 The Ts65Dn segmentally trisomic mouse possesses an extra copy of a segment of c

155 tical region is returned to normal dosage in trisomic Ms1Rhr/Ts65Dn mice, performance in the Morris w

156 allate (EGCG), a Dyrk1a inhibitor, modulated trisomic NCC deficiencies at embryonic time points.

157 Thus, MeiHMM is an effective method for trisomic NDJ error classification and crossover identifi

158 revealed a deficiency in differentiation of trisomic neural stem cells to neurons, correctible by in

159 However, the male and female trisomic/normal expression ratio distributions for 2L ge

160 iogenesis, and the reduced neurite length of trisomic NPCs, indicating that APP overexpression underp

161 r neuronal differentiation and maturation in trisomic NPCs.

162 nt methods are based on the genotypes from a trisomic offspring and both parents.

163 s predicted to result in a high frequency of trisomic offspring from a trisomic parent.

164 The lower-than-expected frequency of trisomic offspring has been attributed to losses at meio

165 advanced maternal age and increased risk of trisomic offspring is well known clinically but not clea

166 Disproportional loss of trisomic offspring occurs in late gestation and continue

167 of the X chromosome, however, have far fewer trisomic offspring than expected.

168 n MSN BFCNs, which were attenuated by MCS in trisomic offspring, including the cholinergic, glutamate

169 y improved attentional function of the adult trisomic offspring.

170 omosome engineering to create mice that were trisomic or monosomic for only the mouse chromosome segm

171 omic gene content and allelic differences in trisomic or nontrisomic genes influence variability in g

172 t improper repression of MeCP2, secondary to trisomic overexpression of Hsa21-derived miRNAs, may con

173 high frequency of trisomic offspring from a trisomic parent.

174 It can also create euploid iPSCs from human trisomic patient fibroblasts.

175 On the contrary, the treatment exacerbated trisomic phenotypes including body weight, tibia microar

176 pport the view that biologically significant trisomic phenotypes occur because of dosage effects of g

177 ibe a number of basic statistical models for trisomic phenotypes.

178 elevance to overcoming infertility and other trisomic phenotypes.

179 trait is present only among a subset of the trisomic population.

180 fects of genetic modifiers in the sensitized trisomic population.

181 been interested in creating similar maps for trisomic populations in which one of the parents of the

182 se occurs at an earlier age among women with trisomic pregnancies than it does among women with chrom

183 d in a dramatic increase in the incidence of trisomic pregnancies.

184 ossover events based on only genomic data of trisomic probands.

185 es to 20 proteins encoded by HSA21 to assess trisomic protein expression in lymphoblastoid cell lines

186 DS; the frontal cortex of a person partially trisomic (PT-DS) for human chromosome 21 (HSA21), whose

187 littermates provided karyotype controls for trisomic pups.

188 roximately 40% of the expressed genes in the trisomic region exhibited the expected 1.5 fold increase

189 The trisomic region on chromosome 22 overlaps the region hem

190 direct evidence for this in a case of mosaic trisomic rescue.

191 use of dosage effects of genes in the Ts1Rhr trisomic segment and that increased dosage is sufficient

192 genotypes of 12 inv dup marker cases (three trisomic, six tetrasomic, two polysomic and one X chromo

193 ompare 111 women whose index pregnancy was a trisomic spontaneous abortion with two groups: women who

194 We deduced that the trisomic status of four chromosomes provided the optimal

195 capacity to differentiate in vitro Moreover, trisomic stem cells formed teratomas more efficiently, f

196 Although the trisomic strains grow well in the laboratory, Ura+ deriv

197 te clonal variation, we isolated disomic and trisomic subclones from the same parental iPS line, ther

198 n of thousands of genes to create a variable trisomic transcriptome.

199 s in hippocampal neurons prepared from GIRK2-trisomic Ts control mice and GIRK2-disomic Ts mice in wh

200 in GABAB R-mediated GIRK2 currents in GIRK2-trisomic Ts mouse hippocampal neurons, which were normal

201 zation of Dyrk1a copy number in an otherwise trisomic Ts65Dn mice normalized many dimensions of the c

202 Trisomic Ts65Dn mice show direct parallels with many phe

203 ed neural activity in the PFC and HPC of the trisomic Ts65Dn mouse model of DS during quiet wakefulne

204 The trisomic Ts65Dn mouse model of DS shows synaptic deficit

205 model, we found that only chromosome 3, when trisomic, was associated with a longer progression-free

206 stem cells (iPSCs), fibroblasts from sterile trisomic XXY and XYY mice lose the extra sex chromosome