p63 mutations have been associated with several human hereditary disorders characterized by ectodermal dysplasia such as EEC syndrome, ADULT syndrome and AEC syndrome . The location and functional effects of the mutations that underlie these syndromes reveal a striking genotype-phenotype correlation. Unlike EEC and ADULT that result from missense mutations in the DNA-binding domain of p63, AEC is solely caused by missense mutations in the SAM domain of p63. We report a study on the TAp63a isoform, the first to be expressed during development of the embryonic epithelia, and on its naturally occurring Q540L mutant derived from an AEC patient. To assess the effects of the Q540L mutation, we generated stable cell lines expressing TAp63a wt, DeltaNp63 alpha or the TAp63 alpha-Q540L mutant protein and used them to systematically compare the cell growth regulatory activity of the mutant and wt p63 proteins and to generate, by microarray analysis, a comprehensive profile of differential gene expression. We found that the Q540L substitution impairs the transcriptional activity of TAp63a and causes misregulation of genes involved in the control of cell growth and epidermal differentiation.
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity.
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TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop.
Specimen part
View SamplesExpression data from Ppara (peroxisome proliferator activated receptor alpha) KO mice injected with TFEB specifically in liver. In order to identify the effects of TFEB overexpression together with Ppara absence on the liver transcriptome, we performed Affymetrix Gene-Chip hybridization experiments for the injected mice
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop.
Specimen part
View SamplesIn order to identify the effects of TFEB overexpression on the liver transcriptome, we performed Affymetrix Gene-Chip hybridization experiments for the injected mice
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop.
Specimen part
View SamplesIn order to identify the effects of starvation on the liver transcriptome, we performed Affymetrix Gene-Chip hybridization experiments for the starved mice
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop.
Specimen part, Treatment
View SamplesIn order to identify the effects of transcription factor EB (TFEB) overexpression on the liver transcriptome, we performed Affymetrix GeneChip hybridization experiments on injected mice overexpressing TFEB specifically in the liver.
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop.
Age, Specimen part, Treatment
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Transcription Factor EB Controls Metabolic Flexibility during Exercise.
Age, Specimen part
View SamplesIn order to identify the effects of the absence of Tcfeb on the muscle transcriptome, we performed Affymetrix Gene-Chip hybridization experiments for the KO mice as compared with wt mice
Transcription Factor EB Controls Metabolic Flexibility during Exercise.
Age, Specimen part
View SamplesSox2 is required to maintain osteosarcoma cell tumor initiation.Knockdown of Sox2 leads tpo loss of tumorigenic properties. To examine gene expression changes upon Sox2 knockdown, we performed microarray analysis on mouse osteosarcoma cells expressing scrambled or Sox2shRNA. We found that genes upregulated upon Sox2 knockdown included osteoblast diffrentiation genes and genes down regulated included cell cycle and RNA processing genes as well as YAP-TEAD target genes.
Sox2 antagonizes the Hippo pathway to maintain stemness in cancer cells.
Specimen part, Cell line
View SamplesDengue is one of the most important arboviruses in the world, with 2.5 billion people living in areas under risk to contagious. Mosquitos from Aedes genus is the transmission vector of viral particles.
Single point mutations in the helicase domain of the NS3 protein enhance dengue virus replicative capacity in human monocyte-derived dendritic cells and circumvent the type I interferon response.
Specimen part, Time
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