GEO DataSets

Analysis of embryos heterozygous mutant for the Treacher Collins Syndrome (TCS) gene (TCOF1). TCS is a congenital disorder of craniofacial development arising from mutations in TCOF1. Results provide insight into the molecular pathogenesis of TCS.

Organism:

Mus musculus

Type:

Expression profiling by array, count, 2 genotype/variation sets

Platform:

GPL1261

Series:

GSE10167

6 Samples

Download data: CEL, CHP, EXP

(Submitter supplied) The object of this study was to identify genes transcriptionally upregulated and downregulated in response to Tcof1 haploin-sufficiency during mouse embryogensis Keywords: mouse embryo, littermates, Tcof1, Treacher Collins sydnrome, comparative hybridisation

Organism:

Mus musculus

Type:

Expression profiling by array

Dataset:

GDS3172

Platform:

GPL1261

6 Samples

Download data: CEL, CHP, EXP

(Submitter supplied) Myriad of craniofacial disorders are caused by heterozygous mutations in general regulators of housekeeping cellular functions such as ribosome biogenesis. While it is understood that many of these highly tissue-specific malformations are a consequence of defects in cranial neural crest cells (cNCCs), an embryonic cell group that gives rise to most of the facial structures during embryogenesis, the mechanism underlying cell type-selectivity of these effects remains largely unknown. more...

Organism:

Homo sapiens

Type:

Genome binding/occupancy profiling by high throughput sequencing; Expression profiling by high throughput sequencing

Platforms:

GPL18573 GPL16791

10 Samples

Download data: BW, WIG

(Submitter supplied) The craniofacial region encompassing rhombomere 2 and adjacent putative BA1 together with all more anterior tissues was collected from E8.5 mouse embryos, processed and analyzed by 10X Genomics Chromium scRNA-seq

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24247

2 Samples

Download data: TXT

(Submitter supplied) Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma. NB N1E-115 cells with wildtype, overexpression, knockdown of Tcof1. Keywords: ordered

Organism:

Mus musculus

Type:

Expression profiling by array

Dataset:

GDS998

Platform:

GPL339

9 Samples

Download data: CEL

Expression profiling of neuroblastoma N1E-115 cells with the Treacher Collins' syndrome (TCS) Tcof1 gene overexpressed or inactivated. TCS is an autosomal dominant dysostosis of the face and lower jaw. Results provide insight into the role of Tcof1 in neuroblastoma cell proliferation.

Organism:

Mus musculus

Type:

Expression profiling by array, count, 3 cell line sets

Platform:

GPL339

Series:

GSE1956

9 Samples

Download data: CEL

(Submitter supplied) Metazoan development depends on accurate execution of differentiation programs that allow pluripotent stem cells to adopt specific fates. Differentiation is brought about by global changes to chromatin architecture and transcriptional networks, yet whether other regulatory events support cell fate determination is less well understood. Using human embryonic stem cell and Xenopus models, we identified the vertebrate-specific ubiquitin ligase Cul3KBTBD8 as an essential regulator of neural crest specification. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing; Other

Platform:

GPL11154

46 Samples

Download data: TXT

(Submitter supplied) Metazoan development depends on accurate execution of differentiation programs that allow pluripotent stem cells to adopt specific fates. Differentiation is brought about by global changes to chromatin architecture and transcriptional networks, yet whether other regulatory events support cell fate determination is less well understood. Using a human embryonic stem cell model, we identified the vertebrate-specific ubiquitin ligase Cul3KBTBD8 as an essential regulator of neural crest cell formation. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL6244

18 Samples

Download data: CEL, CHP

(Submitter supplied) Heterozygous pathogenic variants in POLR1A were identified as the cause of Acrofacial Dysostosis, Cincinnati-type in 2015. Craniofacial anomalies reminiscent of Treacher Collins syndrome were the predominant phenotype observed in the first 3 affected individuals. We have subsequently identified 17 additional individuals with 12 unique (11 novel) heterozygous variants in POLR1A and observed numerous additional phenotypes including developmental delay, infantile spasms, and structural cardiac defects. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24247

10 Samples

Download data: CSV