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Links from GEO DataSets

Items: 20

1.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism disorder

(Submitter supplied) Proteins involved in transcriptional regulation harbor a demonstrated enrichment of mutations in neurodevelopmental disorders. The Sin3 (Swi-independent 3)/histone deacetylase (HDAC) complex plays a central role in histone deacetylation and transcriptional repression. Among the two vertebrate paralogs encoding the Sin3 complex, SIN3A variants cause syndromic intellectual disability, but the clinical consequences of SIN3B haploinsufficiency in humans are uncharacterized. more...
Organism:
Homo sapiens
Type:
Genome binding/occupancy profiling by high throughput sequencing
Platform:
GPL18573
13 Samples
Download data: TXT
Series
Accession:
GSE171119
ID:
200171119
2.

Genome wide binding of trr (ChIP-seq) and expression analysis (RNA-seq) of trr- and G9a mutant fly heads

(Submitter supplied) trr ChIP-seq, trr RNA-seq, G9a RNA-seq
Organism:
Drosophila melanogaster
Type:
Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing
Platforms:
GPL13304 GPL11203
13 Samples
Download data: TXT, WIG
Series
Accession:
GSE89459
ID:
200089459
3.

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing
Platform:
GPL11154
56 Samples
Download data: TXT
Series
Accession:
GSE98478
ID:
200098478
4.

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction [ChIP-seq]

(Submitter supplied) Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth retardation, feeding problems, and various congenital malformations. more...
Organism:
Homo sapiens
Type:
Genome binding/occupancy profiling by high throughput sequencing
Platform:
GPL11154
38 Samples
Download data: TXT
Series
Accession:
GSE98477
ID:
200098477
5.

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction [RNA-seq]

(Submitter supplied) Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth retardation, feeding problems, and various congenital malformations. more...
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL11154
18 Samples
Download data: TXT
6.

Genome-wide maps of Sin3A and Sin3B binding in C2C12 myoblasts and differentiated myotubes

(Submitter supplied) Sin3A and Sin3B bind to distinct and overlapping target sites. Sin3 proteins bind to distinct sites in cycling myoblasts whereas there is a converge of Sin3A and Sin3B proteins to sites in differentiated myotubes. We identified a subset of Sin3 target genes involved in muscle differentiation and physiology and showed that conditional ablation of Sin3 proteins in vivo in mouse results in sarcomere defects
Organism:
Mus musculus
Type:
Genome binding/occupancy profiling by high throughput sequencing
Platform:
GPL9185
14 Samples
Download data: BED
Series
Accession:
GSE22554
ID:
200022554
7.

Six1 and Six4 function in myoblast differentiation

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Mus musculus
Type:
Expression profiling by array
Platform:
GPL7202
32 Samples
Download data: TXT
Series
Accession:
GSE19988
ID:
200019988
8.

Gene Expression Profiling of C2C12 Myoblast Differentiation

(Submitter supplied) In this study, the C2C12 cell line, a model used to study myogenesis and regeneration, was allowed to differentiate from myoblast precursor cells to myotubes. Cells were harvested at 4 different timepoints to perform gene expression profiling. We identified genes that were up-regulated and down-regulated during the differentiation process.
Organism:
Mus musculus
Type:
Expression profiling by array
Platform:
GPL7202
12 Samples
Download data: TXT
Series
Accession:
GSE19968
ID:
200019968
9.

Gene Expression Profiling of siRNA Knock-Down of Six1, Six4 and Myogenin in C2C12

(Submitter supplied) Six1, Six4 and Myogenin are transcription factors that are known to be required for skeletal myogenesis. Currently, very little is known about the genes targeted by Six1 and Six4. Gene expression profiling when one or both transcription factors were knock-down by siRNA was performed to identify genes affected by their absence. We also hypothesized that Six1 and Six4 can work in cooperation with the myogenic regulatory factor (MRFs) family of transcription factors, such as Myogenin. more...
Organism:
Mus musculus
Type:
Expression profiling by array
Platform:
GPL7202
20 Samples
Download data: TXT
Series
Accession:
GSE19967
ID:
200019967
10.

AUTS2 project

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; Genome variation profiling by genome tiling array
5 related Platforms
7 Samples
Download data: CEL, IDAT, TXT
Series
Accession:
GSE37657
ID:
200037657
11.

Oligo array for CNV calling AUTS2 project [Bluegnome]

(Submitter supplied) Phenotypic and genotypic description of AUTS2 deletion patients found by Array analysis in an international cohort of intellectual disability (ID) and multiple congenital malformations (MCA).
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
Platform:
GPL15503
1 Sample
Download data: TXT
Series
Accession:
GSE37656
ID:
200037656
12.

Oligo array for calling CNV's for AUTS2 project [NimbleGen]

(Submitter supplied) Phenotypic and genotypic description of AUTS2 deletion patients found by Array analysis in an international cohort of intellectual disability (ID) and multiple congenital malformations (MCA).
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
Platform:
GPL15502
1 Sample
Download data: TXT
Series
Accession:
GSE37654
ID:
200037654
13.

SNP array for CNV calling AUTS2 project [Illumina]

(Submitter supplied) Phenotypic and genotypic description of AUTS2 deletion patients found by Array analysis in an international cohort of intellectual disability (ID) and multiple congenital malformations (MCA).
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL13314
1 Sample
Download data: IDAT, TXT
Series
Accession:
GSE37142
ID:
200037142
14.

Oligo array for CNV calling AUTS2 project [Agilent]

(Submitter supplied) Phenotypic and genotypic description of AUTS2 deletion patients found by Array analysis in an international cohort of intellectual disability (ID) and multiple congenital malformations (MCA).
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
Platform:
GPL8693
2 Samples
Download data: TXT
Series
Accession:
GSE37141
ID:
200037141
15.

SNP array for CNV calling AUTS2 project [Affymetrix]

(Submitter supplied) Phenotypic and genotypic description of AUTS2 deletion patients found by Array analysis in an international cohort of intellectual disability (ID) and multiple congenital malformations (MCA).
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL6801
2 Samples
Download data: CEL
Series
Accession:
GSE36950
ID:
200036950
16.

De novo mutations in the genome organizer CTCF cause Intellectual Disability

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing
Platforms:
GPL11154 GPL13393
12 Samples
Download data: BED, XLS
Series
Accession:
GSE46833
ID:
200046833
17.

De novo mutations in the genome organizer CTCF cause Intellectual Disability (ChIP-Seq)

(Submitter supplied) An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in the CTCF gene in individuals with intellectual disability, microcephaly and growth retardation. more...
Organism:
Homo sapiens
Type:
Genome binding/occupancy profiling by high throughput sequencing
Platform:
GPL11154
1 Sample
Download data: BED, XLS
Series
Accession:
GSE46832
ID:
200046832
18.

De novo mutations in the genome organizer CTCF cause Intellectual Disability (RNA-Seq)

(Submitter supplied) An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in the CTCF gene in individuals with intellectual disability, microcephaly and growth retardation. more...
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL13393
11 Samples
Download data: TXT
Series
Accession:
GSE46831
ID:
200046831
19.

Analysis of gene expression in Idasanutlin-arrested SIN3A and SIN3B depleated cells

(Submitter supplied) mRNA expression analysis of arrested HCT116 cells (wild-type or SIN3B-/-) transfected with either non-targeting control siRNA or one of three SIN3A siRNAs and treated with Idasanulin to activate p53.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL24676
11 Samples
Download data: TXT
Series
Accession:
GSE240734
ID:
200240734
20.

SIN3 acts in distinct complexes to regulate the germline transcriptional program in C. elegans

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Caenorhabditis elegans
Type:
Expression profiling by high throughput sequencing
Platform:
GPL22765
14 Samples
Download data: TSV
Series
Accession:
GSE227499
ID:
200227499
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