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TranscriptomicsDelayed cell cycling in DS Ts1Cje neural precursor cells results in gene expression dysregulation
Down syndrome neurophenotypes are characterized by mental retardation and a decreased brain volume. In order to identify whether deficits in proliferation, differentiation or survival could be responsible for this phenotype, neural precursor cells (NPCs) were isolated from the developing E14 neocort...
ORGANISM(S): Mus musculus 
2010-05-19 | E-GEOD-9805 | biostudies-arrayexpress
TranscriptomicsA mouse Embryonic Stem Cell Bank for inducible overexpression of human chromosome 21 genes
The HSA21-mES Cell Bank includes, in triplicate clones, thirty-two murine orthologs of HSA21 genes, which can be overexpressed in an inducible manner using the Tet-off system integrated in the Rosa26 locus. The following subset of twenty clones were characterized by microarray analysis: Bach1, Erg, ...
ORGANISM(S): Mus musculus 
2010-12-06 | E-GEOD-19836 | biostudies-arrayexpress
GenomicsDown syndrome Data Access Committee (DS-DAC)
Data Access Committee EGAC01000000023
EGAC01000000023 | EGA
TranscriptomicsMethylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15
Methylation profiles of chr12-16 were generated by meDIP and array hybridisation in 3 cases with maternal uniparental disomy of chromosome 15, and three cases of paternal uniparental disomy of chromosome 15. Comparison of these profiles reveals differentially methylated (imprinted) regions on chromo...
ORGANISM(S): Homo sapiens 
2010-06-12 | E-GEOD-22188 | biostudies-arrayexpress
UnknownBi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Not available
S-EPMC6174361 | biostudies-literature
UnknownKaryotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes.
Not available
S-EPMC7139464 | biostudies-literature
UnknownVisual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
Not available
S-EPMC6048992 | biostudies-literature
TranscriptomicsmiR-99a let7c cluster
To investigate the function of miR99a/let-7c miRNAs during cardiomyogenesis, we decided to perturb their expression using transgenic mES cell lines the corresponding precursors (pre-miRNA) of the two miRNAs. We used the ROSA-TET system (EB3 tet off), in which the transgene is inserted in Rosa26 locu...
ORGANISM(S): Mus musculus 
2013-07-01 | E-MEXP-3748 | biostudies-arrayexpress
Transcriptomicssmall RNA-sequencing of 452 lymphoblastoid cell lines from the 1000 Genomes
This RNA sequencing data set of 465 human lymphoblastoid cell line samples from the CEU, FIN, GBR, TSI and YRI populations from the 1000 Genomes sample collection was created by the Geuvadis consortium (www.geuvadis.org, http://www.geuvadis.org/web/geuvadis/our-rnaseq-project). The data is under emb...
ORGANISM(S): Homo sapiens 
2012-11-06 | E-GEUV-2 | biostudies-arrayexpress
UnknownIdentification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.
Not available
S-EPMC3012927 | biostudies-literature
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