Project description:Microarray expression data from three arterial tortuosity syndrome (ATS) patients' skin fibroblasts with recessive SLC2A10 mutations
Project description:A zebrafish model of arterial tortuosity syndrome (ATS) was generated by knocking down the slc2a10/glut10 gene using antisense morpholino oligonucleotides (MO). Control morpholino treated embryos were used as controls. The samples were collected for gene expression profiling at 48 hours post fertilization. Experimental details and analyzed data are available in Willaert et al. Human Molecular Genetics 2011; doi: 10.1093/hmg/ddr555 Two-condition experiment, slc2a10 MO (7.5ng) treatment vs control MO (5ng) treatment. Biological replicates: 3 slc2a10 MO replicates, compared to a pooled sample of 3 control MO replicates with dye swap.
Project description:A zebrafish model of arterial tortuosity syndrome (ATS) was generated by knocking down the slc2a10/glut10 gene using antisense morpholino oligonucleotides (MO). Control morpholino treated embryos were used as controls. The samples were collected for gene expression profiling at 48 hours post fertilization. Experimental details and analyzed data are available in Willaert et al. Human Molecular Genetics 2011; doi: 10.1093/hmg/ddr555
Project description:To screen for potential miRNA that may contribute to the pathomechanisms of ATS miRNA expression profiling using the Affymetrix GeneChip® miRNA 3.0 Array comparing the miRNA expression changes of skin fibroblasts of three ATS patients with those of three healthy individuals
Project description:To screen for candidate genes that may contribute to the pathogenesis of ATS Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression patterns of skin fibroblasts of three ATS patients with those of three healthy individuals
Project description:To screen for candidate genes that may contribute to the pathogenesis of ATS Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression patterns of skin fibroblasts of three ATS patients with those of three healthy individuals Comparison between three ATS human fibroblasts and three healthy individuals
Project description:To screen for potential miRNA that may contribute to the pathomechanisms of ATS miRNA expression profiling using the Affymetrix GeneChip® miRNA 3.0 Array comparing the miRNA expression changes of skin fibroblasts of three ATS patients with those of three healthy individuals Comparison of miRNA expression profiles between three ATS human fibroblasts and three healthy individuals
Project description:Recessive dystrophic epidermolysis bullosa, Kindler syndrome and xeroderma pigmentosum C, are three cancer-prone genodermatoses whose causal genetic mutations cannot fully explain, on their own, the array of associated phenotypic manifestations. Recent evidence highlights the contributing role of the stromal microenvironment in the pathology of these disorders. To investigate common mechanisms that contribute to the pathogenic role played by dermal fibroblasts, we conducted a comparative gene expression analysis by RNA-Seq.
Project description:The goal of this study was to identify new mutations in the ENPP1 gene that produce infantile arterial calcification and fetal demise. A stillborn (proband) was diagnosed with infantile arterial calcification. Mutations in the ENPP1 gene account for ~80% of the cases of infantile arterial calcification through loss of function in both alleles (recessive inheritance).
Project description:Fibrillins are the major components of microfibrils in the extracellular matrix of elastic and non-elastic tissues. Fibrillin-1 contains one evolutionarily conserved Arg-Gly-Asp (RGD) sequence which mediates cell-matrix interactions through cell-surface integrins. Mutations in close vicinity to the RDG sequence lead to heritable disorders, including Marfan syndrome and stiff skin syndrome. Two recombinant fibrillin-1 fragments were produced, one wild-type RGD-containing fragment and one fragment containing a mutant RGA sequence, which has been previously shown to abolish interactions with integrins. To determine the differential regulation of signaling pathways, microarray analysis of microRNA expression was conducted using Affymetrix miRNA3.0 chips. The microRNA expression levels were compared after 24 hours of interaction between human skin fibroblasts (HSFs) and the RGD- and RGA-containing fibrillin-1 fragments.
