id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_c7jttykpwrdjzkl5i3llnocfau	Aaron Richard Jeffries	Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging	2019.0	10	.pdf	application/pdf	8866	961	51	We profiled genome-wide DNA methylation patterns in DNMT3A c.2312G > A; p.(Arg771Gln) carriers in a large Amish sibship with These findings were most marked in a carrier of the AML-associated driver mutation p.Arg882Cys. Our studies additionally defined phenotype-related accelerated and decelerated epigenetic aging in two histone methyltransferase disorders: NSD1 Sotos syndrome overgrowth disorder and KMT2D Kabuki analysis comparing Amish DNMT3A c.2312G > A; p.(Arg771Gln) pathogenic variant carriers and wild-type family members using the Illumina 450K array. (C) Top 20 Gene Ontology enrichment analysis categories associated with the 2606 DMPs identified in DNMT3A c.2312G > A; p.(Arg771Gln) pathogenic variant carriers versus wild-type Boxplot illustrating the DNA methylation changes observed in association with the DNMT3A TBRS variants studied at the DMPs identified in the Amish TBRS DNMT3A variants are associated with epigenetic age acceleration In both overgrowth conditions, TBRS and Sotos syndrome, we identified accelerated epigenetic aging as measured by the DNA methylation age calculator	./cache/work_c7jttykpwrdjzkl5i3llnocfau.pdf	./txt/work_c7jttykpwrdjzkl5i3llnocfau.txt