Similar studies for GEO DataSets (Select 200055505) - GEO DataSets

Select item 2000555051.

Domains of genomewide gene expression dysregulation in Down syndrome [RRBS]

(Submitter supplied) Trisomy 21 (T21) is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in T21, and to eliminate the noise of the genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for T21. Here we show that the differential expression between the twins is organized in domains along all chromosomes that are either up- or downregulated. more...

Organism:: Homo sapiens

Type:: Methylation profiling by high throughput sequencing

Platform:: GPL11154
2 Samples

Download data: TXT

Series

Accession:: GSE55505

ID:: 200055505

PubMed Similar studies SRA Run Selector

Select item 2000555062.

Domains of genomewide gene expression dysregulation in Down syndrome [ChIP-seq]

(Submitter supplied) Trisomy 21 (T21) is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in T21, and to eliminate the noise of the genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for T21. Here we show that the differential expression between the twins is organized in domains along all chromosomes that are either up- or downregulated. more...

Organism:: Homo sapiens

Type:: Genome binding/occupancy profiling by high throughput sequencing

Platform:: GPL16791
2 Samples

Download data: TXT

Series

Accession:: GSE55506

ID:: 200055506

PubMed Similar studies SRA Run Selector

Select item 2000555043.

Domains of genomewide gene expression dysregulation in Down syndrome [RNA-seq]

(Submitter supplied) Trisomy 21 (T21) is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in T21, and to eliminate the noise of the genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for T21. Here we show that the differential expression between the twins is organized in domains along all chromosomes that are either up- or downregulated. more...

Organism:: Homo sapiens; Mus musculus

Type:: Expression profiling by high throughput sequencing

Platforms:: GPL11154 GPL13112 GPL16791
30 Samples

Download data: TXT

Series

Accession:: GSE55504

ID:: 200055504

PubMed Similar studies SRA Run Selector

Select item 2000554264.

Domains of genomewide gene expression dysregulation in Down syndrome

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Homo sapiens; Mus musculus

Type:: Methylation profiling by genome tiling array; Genome binding/occupancy profiling by high throughput sequencing; Expression profiling by high throughput sequencing; Methylation profiling by high throughput sequencing

4 related Platforms
42 Samples

Download data: BW, PAIR, TXT

Series

Accession:: GSE55426

ID:: 200055426

Select item 2000554255.

Domains of genomewide gene expression dysregulation in Down syndrome [Dnase HS mapping]

(Submitter supplied) Trisomy 21 (T21) is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in T21, and to eliminate the noise of the genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for T21. Here we show that the differential expression between the twins is organized in domains along all chromosomes that are either up- or downregulated. more...

Organism:: Homo sapiens

Type:: Genome binding/occupancy profiling by high throughput sequencing

Platform:: GPL11154
4 Samples

Download data: BW

Series

Accession:: GSE55425

ID:: 200055425

PubMed Similar studies SRA Run Selector

Select item 2000552896.

Domains of genomewide gene expression dysregulation in Down syndrome [array]

(Submitter supplied) Trisomy 21 (T21) is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in T21, and to eliminate the noise of the genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for T21. Here we show that the differential expression between the twins is organized in domains along all chromosomes that are either up- or downregulated. more...

Organism:: Homo sapiens

Type:: Methylation profiling by genome tiling array

Platform:: GPL10559
4 Samples

Download data: PAIR, TXT

Series

Accession:: GSE55289

ID:: 200055289

Select item 2001019427.

Transcriptome analysis of genetically matched human induced pluripotent stem cells disomic or trisomic for chromosome 21

(Submitter supplied) Trisomy of chromosome 21, the genetic cause of Down syndrome, has the potential to alter expression of genes on chromosome 21, as well as other locations throughout the genome. These transcriptome changes are likely to underlie the Down syndrome clinical phenotypes. We have employed RNA-seq to undertake an in-depth analysis of transcriptome changes resulting from trisomy of chromosome 21, using induced pluripotent stem cells (iPSCs) derived from a single individual with Down syndrome. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL11154
12 Samples

Download data: TXT

Series

Accession:: GSE101942

ID:: 200101942

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Select item 2000522518.

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing; Genome variation profiling by array

Platforms:: GPL5477 GPL11154
9 Samples

Download data: TXT

Series

Accession:: GSE52251

ID:: 200052251

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Select item 2000522509.

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 [CGH]

(Submitter supplied) Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from monozygotic twins discordant for trisomy 21 in order to eliminate the effects of the variability of genomic background. The alterations observed by genetic analysis at the iPSC level and at first approximation in early development illustrate the developmental disease transcriptional signature of Down syndrome. more...

Organism:: Homo sapiens

Type:: Genome variation profiling by array

Platform:: GPL5477
2 Samples

Download data: TXT

Series

Accession:: GSE52250

ID:: 200052250

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Select item 20005224910.

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 [RNA-seq]

(Submitter supplied) Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from monozygotic twins discordant for trisomy 21 in order to eliminate the effects of the variability of genomic background. The alterations observed by genetic analysis at the iPSC level and at first approximation in early development illustrate the developmental disease transcriptional signature of Down syndrome. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL11154
7 Samples

Download data: TXT

Series

Accession:: GSE52249

ID:: 200052249

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Select item 20012351411.

Transcriptome of Dp1Tyb and wild-type mouse embryonic fibroblasts [ERCC spike-ins]

(Submitter supplied) Purpose: to identify the effects of the Dp1Tyb mutation on the transcriptome of mouse embryonic fibroblasts

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing

Platform:: GPL21103
8 Samples

Download data: TXT

Series

Accession:: GSE123514

ID:: 200123514

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Select item 20010929512.

Transcriptome of Dp1Tyb and wild-type mouse embryonic fibroblasts and hippocampus

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing

Platforms:: GPL17021 GPL21103
27 Samples

Download data

Series

Accession:: GSE109295

ID:: 200109295

PubMed Full text in PMC Similar studies

Select item 20010929413.

Transcriptome of Dp1Tyb and wild-type mouse hippocampus

(Submitter supplied) Purpose: to identify the effects of the Dp1Tyb mutation on the transcriptome of mouse hippocampus

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing

Platform:: GPL21103
10 Samples

Download data: TXT

Series

Accession:: GSE109294

ID:: 200109294

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Select item 20010929314.

Transcriptome of Dp1Tyb and wild-type mouse embryonic fibroblasts

(Submitter supplied) Purpose: to identify the effects of the Dp1Tyb mutation on the transcriptome of mouse embryonic fibroblasts

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing

Platform:: GPL17021
9 Samples

Download data: TXT

Series

Accession:: GSE109293

ID:: 200109293

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Select item 20013550015.

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

(Submitter supplied) Aneuploidy is a major source of gene dosage imbalance due to copy number alterations (CNA) and viable human trisomies are model disorders of altered gene expression. We studied gene and allele specific expression (ASE) of 9668 single-cell fibroblasts from T21 discordant twins and from mosaic T21, T18, T13 and T8. We examined 928 single cells with deep scRNAseq. Expected and observed overexpression of trisomic genes in trisomic vs. more...

Organism:: Homo sapiens

Type:: Other; Expression profiling by high throughput sequencing

Platform:: GPL11154
347 Samples

Download data: CSV, TXT

Series

Accession:: GSE135500

ID:: 200135500

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Select item 20012302816.

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

(Submitter supplied) X-chromosome inactivation (XCI) provides a dosage compensation mechanism where, in each female cell, one of the two X chromosomes is randomly silenced. However, some genes on the inactive X chromosome and outside the pseudoautosomal regions escape from XCI and are expressed from both alleles (escapees). We investigated XCI at single-cell resolution combining deep single cellRNA sequencing with whole-genome sequencing to examine allelic-specific expression in 935 primary fibroblast and 48 lymphoblastoid single cells from five female individuals. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL11154
820 Samples

Download data: CSV

Series

Accession:: GSE123028

ID:: 200123028

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Select item 20004701417.

Translating Dosage Compensation to Trisomy 21

(Submitter supplied) Down syndrome is a common disorder with enormous medical and social costs, caused by trisomy for Chr21. We tested the concept that gene imbalance across an extra chromosome can be de facto corrected in DS patient stem cells by manipulating a single gene, XIST. Using zinc finger nucleases, we targeted a large, inducible XIST transgene into the Chr21 DYRK1A locus, in DS pluripotent stem cells. XIST RNA coats Chr21 and triggers stable heterochromatin modifications, chromosome-wide transcriptional silencing and DNA methylation to form a “Chr21 Barr Body.” This provides a model to study human chromosome inactivation and creates a system to investigate genomic expression changes and cellular pathologies of trisomy 21, free from genetic and epigenetic noise. more...

Organism:: Homo sapiens

Type:: Expression profiling by array

Platform:: GPL15207
27 Samples

Download data: CEL

Series

Accession:: GSE47014

ID:: 200047014

PubMed Full text in PMC Similar studies Analyze with GEO2R

Select item 20003893118.

Genome-wide comparison of trisomy 21 iPSCs and derived isogenic disomy 21 iPSCs.

(Submitter supplied) Human trisomies can alter cellular phenotypes and produce congenital abnormalities such as Down Syndrome (DS). Here we have generated induced pluripotent stem cells (iPSCs) from DS fibroblasts, and introduced a TKNEO transgene into one copy of chromosome 21 by gene targeting. When selecting against TKNEO, spontaneous chromosome loss was the most common cause for survival, with a frequency of ~10-4, while point mutations, epigenetic silencing, and TKNEO deletions occurred at lower frequencies in this unbiased comparison of inactivating mutations. more...

Organism:: Homo sapiens

Type:: Expression profiling by array

Platform:: GPL10558
8 Samples

Download data: TXT

Series

Accession:: GSE38931

ID:: 200038931

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Select item 20001312319.

Meiotic Consequences of Aneuploidy: Mouse Models of Down Syndrome

(Submitter supplied) Aneuploidy, and especially the presence of unpaired chromosomal axes during meiosis, can cause infertility. However, it is not known if extra, unpaired autosomal chromosome segments acquire characteristic protein modifications and undergo transcriptional silencing (meiotic silencing of unpaired chromatin, or MSUC) similar to the unpaired regions of the X and Y chromosomes during spermatogenesis. We used three mouse models of Down syndrome, involving either an extra chromosome or translocation trisomy, to test requirements and consequences of meiotic protein modification and gene silencing in spermatocytes. more...