Search results for "Fetal brain development"

showing 2 items of 2 documents

Epigenetic dysregulation in the developing Down syndrome cortex

2016

Using Illumina 450K arrays, 1.85% of all analyzed CpG sites were significantly hypermethylated and 0.31% hypomethylated in fetal Down syndrome (DS) cortex throughout the genome. The methylation changes on chromosome 21 appeared to be balanced between hypo- and hyper-methylation, whereas, consistent with prior reports, all other chromosomes showed 3–11 times more hyper- than hypo-methylated sites. Reduced NRSF/REST expression due to upregulation of DYRK1A (on chromosome 21q22.13) and methylation of REST binding sites during early developmental stages may contribute to this genome-wide excess of hypermethylated sites. Upregulation of DNMT3L (on chromosome 21q22.4) could lead to de novo methyl…

Adult0301 basic medicineCancer ResearchDown syndromeDown syndromeNeuronal OutgrowthDNMT3BProtein Serine-Threonine KinasesBiologyDNA Methyltransferase 3AEpigenesis Genetic03 medical and health sciencesfetal brain developmentddc:570medicineHumansDNA (Cytosine-5-)-MethyltransferasesEpigeneticsddc:610Molecular BiologyCerebral CortexGeneticsDNA methylationfrontal cortexGene Expression Regulation DevelopmentalChromosomeMethylationProtein-Tyrosine KinasesCadherinsmedicine.diseaseMolecular biologyprotocadherin gamma cluster030104 developmental biologyCpG siteDNA methylationChromosome 21Research Paper
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Isolation and differential expression of two isoforms of the ROBO2/Robo2 axon guidance receptor gene in humans and mice.

2006

AbstractExpression of Robo receptor molecules is important for axon guidance across the midline of the mammalian central nervous system. Here we describe novel isoform a of human ROBO2, which is initially strongly expressed in the fetal human brain but thereafter only weakly expressed in adult brain and a few other tissues. The known isoform b of ROBO2 shows a more or less ubiquitous expression pattern, suggesting diverse functional roles. The genomic structure and distinct expression patterns of Robo2a and Robo2b have been conserved in the mouse, but in contrast to human ROBO2a mouse Robo2a is also abundant in adult brain. Exons 1 and 2 of human ROBO2a lie in an inherently unstable DNA seg…

Fetal brain developmentGene isoformSegmental duplicationMolecular Sequence DataBreak in syntenyBiologyLoss of heterozygosity03 medical and health sciencesMice0302 clinical medicineChromosome 3p12.3GeneticsAnimalsHumansProtein IsoformsAmino Acid SequenceReceptors ImmunologicGene030304 developmental biologySegmental duplicationSyntenyEvolutionary breakpointGenetics0303 health sciencesAxon guidanceChromosomeBrainGene Expression Regulation DevelopmentalROBO2ExonsChromosomes MammalianHuman genomeAxon guidanceChromosomes Human Pair 3030217 neurology & neurosurgeryGenomics
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