FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2169109994> ?p ?o ?g. }

• W2169109994 endingPage "e1004402" @default.
• W2169109994 startingPage "e1004402" @default.
• W2169109994 abstract "DNA mutational events are increasingly being identified in autism spectrum disorder (ASD), but the potential additional role of dysregulation of the epigenome in the pathogenesis of the condition remains unclear. The epigenome is of interest as a possible mediator of environmental effects during development, encoding a cellular memory reflected by altered function of progeny cells. Advanced maternal age (AMA) is associated with an increased risk of having a child with ASD for reasons that are not understood. To explore whether AMA involves covert aneuploidy or epigenetic dysregulation leading to ASD in the offspring, we tested a homogeneous ectodermal cell type from 47 individuals with ASD compared with 48 typically developing (TD) controls born to mothers of ≥35 years, using a quantitative genome-wide DNA methylation assay. We show that DNA methylation patterns are dysregulated in ectodermal cells in these individuals, having accounted for confounding effects due to subject age, sex and ancestral haplotype. We did not find mosaic aneuploidy or copy number variability to occur at differentially-methylated regions in these subjects. Of note, the loci with distinctive DNA methylation were found at genes expressed in the brain and encoding protein products significantly enriched for interactions with those produced by known ASD-causing genes, representing a perturbation by epigenomic dysregulation of the same networks compromised by DNA mutational mechanisms. The results indicate the presence of a mosaic subpopulation of epigenetically-dysregulated, ectodermally-derived cells in subjects with ASD. The epigenetic dysregulation observed in these ASD subjects born to older mothers may be associated with aging parental gametes, environmental influences during embryogenesis or could be the consequence of mutations of the chromatin regulatory genes increasingly implicated in ASD. The results indicate that epigenetic dysregulatory mechanisms may complement and interact with DNA mutations in the pathogenesis of the disorder." @default.
• W2169109994 created "2016-06-24" @default.
• W2169109994 creator A5000176766 @default.
• W2169109994 creator A5001214257 @default.
• W2169109994 creator A5006617799 @default.
• W2169109994 creator A5010510109 @default.
• W2169109994 creator A5010980492 @default.
• W2169109994 creator A5012541146 @default.
• W2169109994 creator A5018484667 @default.
• W2169109994 creator A5024626668 @default.
• W2169109994 creator A5027133644 @default.
• W2169109994 creator A5034865429 @default.
• W2169109994 creator A5036272559 @default.
• W2169109994 creator A5036572764 @default.
• W2169109994 creator A5036869032 @default.
• W2169109994 creator A5037444292 @default.
• W2169109994 creator A5037664587 @default.
• W2169109994 creator A5040370543 @default.
• W2169109994 creator A5042808940 @default.
• W2169109994 creator A5043268470 @default.
• W2169109994 creator A5044577020 @default.
• W2169109994 creator A5047245152 @default.
• W2169109994 creator A5048465435 @default.
• W2169109994 creator A5048839844 @default.
• W2169109994 creator A5049365568 @default.
• W2169109994 creator A5051452495 @default.
• W2169109994 creator A5055772937 @default.
• W2169109994 creator A5056977170 @default.
• W2169109994 creator A5057805133 @default.
• W2169109994 creator A5069449714 @default.
• W2169109994 creator A5089411792 @default.
• W2169109994 date "2014-05-29" @default.
• W2169109994 modified "2023-10-12" @default.
• W2169109994 title "Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder" @default.
• W2169109994 cites W1572843489 @default.
• W2169109994 cites W1964444099 @default.
• W2169109994 cites W1965970535 @default.
• W2169109994 cites W1966327575 @default.
• W2169109994 cites W1968328969 @default.
• W2169109994 cites W1975528145 @default.
• W2169109994 cites W1975783203 @default.
• W2169109994 cites W1985213868 @default.
• W2169109994 cites W1995647101 @default.
• W2169109994 cites W2002780340 @default.
• W2169109994 cites W2012203722 @default.
• W2169109994 cites W2020331089 @default.
• W2169109994 cites W2022689242 @default.
• W2169109994 cites W2024663595 @default.
• W2169109994 cites W2029033394 @default.
• W2169109994 cites W2030679551 @default.
• W2169109994 cites W2041195771 @default.
• W2169109994 cites W2051715042 @default.
• W2169109994 cites W2052689749 @default.
• W2169109994 cites W2064902628 @default.
• W2169109994 cites W2065020285 @default.
• W2169109994 cites W2065890382 @default.
• W2169109994 cites W2071826727 @default.
• W2169109994 cites W2073123191 @default.
• W2169109994 cites W2076726575 @default.
• W2169109994 cites W2077232248 @default.
• W2169109994 cites W2078812219 @default.
• W2169109994 cites W2082107430 @default.
• W2169109994 cites W2086289230 @default.
• W2169109994 cites W2095682261 @default.
• W2169109994 cites W2096099115 @default.
• W2169109994 cites W2101109835 @default.
• W2169109994 cites W2102893853 @default.
• W2169109994 cites W2106889224 @default.
• W2169109994 cites W2107060225 @default.
• W2169109994 cites W2110374888 @default.
• W2169109994 cites W2112655992 @default.
• W2169109994 cites W2118607021 @default.
• W2169109994 cites W2125700595 @default.
• W2169109994 cites W2130752875 @default.
• W2169109994 cites W2136691282 @default.
• W2169109994 cites W2137271973 @default.
• W2169109994 cites W2146002876 @default.
• W2169109994 cites W2146036559 @default.
• W2169109994 cites W2148118486 @default.
• W2169109994 cites W2153463404 @default.
• W2169109994 cites W2154131855 @default.
• W2169109994 cites W2165101781 @default.
• W2169109994 cites W2166968390 @default.
• W2169109994 cites W2169353806 @default.
• W2169109994 cites W2169556367 @default.
• W2169109994 cites W2171030481 @default.
• W2169109994 doi "https://doi.org/10.1371/journal.pgen.1004402" @default.
• W2169109994 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4038484" @default.
• W2169109994 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24875834" @default.
• W2169109994 hasPublicationYear "2014" @default.
• W2169109994 type Work @default.
• W2169109994 sameAs 2169109994 @default.
• W2169109994 citedByCount "90" @default.
• W2169109994 countsByYear W21691099942014 @default.
• W2169109994 countsByYear W21691099942015 @default.
• W2169109994 countsByYear W21691099942016 @default.
• W2169109994 countsByYear W21691099942017 @default.
• W2169109994 countsByYear W21691099942018 @default.

• next