Project description:Genome wide DNA methylation profiling of EGC with and without LVI. The Illumina Infinium 850k Human DNA methylation Beadchip was used to obtain DNA methylation profiles across approximately 820,000 CpGs in FFPE slides. Samples included 10 EGC patients with LVI and 10 negative controls.
Project description:Genome wide DNA methylation profiling of blood samples from patients with ASD and controls. The IlluminaInfinium HumanMethylation450 BeadChip was used to obtain DNA methylation profiles across approximately 450,000 CpGs. Samples included 53 individuals with idiopathic ASD (aged 2 to 14) and 10 age-matched controls.
Project description:Genome-wide methylation profiling of DNA extracted from the prefrontal cortex of post-mortem MSA patients (n=41) or normal, healthy controls (CTRLs; n=37). The Illumina Infinium MethylationEPIC BeadChip was used, investigating app. 850,000 CpG sites throughout the genome
Project description:We developed spinal cord organoids (SCOs) as an in vitro modeling system to help understand the pathophysiology of the spinal cord in myelomeningocele (MMC). The cell types and development of these SCOs was examined with scRNA sequencing.
Project description:Despite numerous studies on fetal therapy for myelomeningoceles (MMC), the pathophysiology of this malformation remains poorly understood. This study aimed to analyze the biochemical profile and proteome of amniotic fluid (AF) supernatants from MMC fetuses to explore the prenatal pathophysiology. Proteome analysis was conducted in 18 MMC and 18 healthy singleton fetuses, as well as in 5 dichorionic pregnancies with MMC fetuses and their healthy co-twins. ELISA tests were used to validate proteome results. Biochemical analysis revealed anal incontinence in 37% of MMC cases (p<0.0001), while controls had a normal profile. Proteomics identified 2453 quantified proteins, with 39 significantly up-regulated and 10 down-regulated in MMC. Up-regulated proteins included ectodomains of CHL1, APLP1, SEZ6, SEZ6L, which are generated by the Alzheimer’s disease-linked protease BACE1. Some proteins varied with disease and gestational age, e.g., CNTN1, NEO1, and DRAXIN. COL11A2 and EFNB1 decreased in MMC, rising in controls. Contrary to the in-utero inflammation or meconium neurotoxicity hypothesis, our results suggest a CSF leak in AF. Abundance of brain and spinal cord proteins may aid diagnosis, characterizing cases and informing prognosis for couples.
Project description:Genome-wide DNA methylation profiling of 10 pediatric bithalamic diffuse gliomas. The Illumina Infiunium 450k Human DNA Methylation Beadchip (n=4) or the Infinium EPIC 850k Human DNA Methylation Beadchip (n=6) was used to obtain DNA methylation profiles across approximately 450,000 or 850,000 CpG sites of genomic DNA extracted from formalin-fixed, paraffin-embedded tumor tissue of 10 pediatric bithalamic diffuse gliomas.
Project description:Genome wide DNA methylation profiling of FASD patients versus healthy unexposed controls. The Illumina Infinium 450k Human DNA methylation Beadchip was used to obtain DNA methylation profiles across approximately 485,000 CpGs in peripheral blood samples. Samples included 28 healthy controls and7 FASD patients.
Project description:Genome wide DNA methylation profiling of rheumatoid arthritis (RA) patients and healthy controls. The Illumina Infinium 450k Human DNA methylation Beadchip was used to obtain DNA methylation profiles in peripheral blood mononuclear cells (PBMCs). Samples included 25 RA patients and 18 healthy controls.
Project description:Genome wide DNA methylation profiling of muscle cells extracted from healthy donors at different ages. The Illumina Infinium Human Methylation 450 BeadChip was used to obtain DNA methylation profiles across > 485,000 methylation sites. The muscle cells were extracted from young adults (18-40 years old) and elderly (>70 years old)(n=3 per group, 2 groups : Young and aged adult).
Project description:Genome wide DNA methylation profiling of FASD patients versus healthy unexposed controls. The Illumina Infinium 450k Human DNA methylation Beadchip was used to obtain DNA methylation profiles across approximately 485,000 CpGs in peripheral blood samples. Samples included 64 healthy controls and 39 FASD patients.