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  1. ...is also helpful in identifying and prioritizing previously missed SVs associated with methylation changes (Fig. 2D). In a large rare disease cohort, Cheung et al. (2023) discovered a hypermethylated region adjacent to a previously missed pathogenic repeat expansion in the DIP2B gene in a proband...
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  2. ...E, Figueroa ME, Glass JL, Chen Q, Montagna C, et al. 2006. Comparative isoschizomer profiling of cytosine methylation: The HELP assay. Genome Res 16: 1046–1055. Kohonen T. 2001. Self Organizing Maps. Springer, Berlin, Germany. Krauss V. 2008. Glimpses of evolution: heterochromatic histone H3K9...
  3. ...High definition profiling of mammalian DNA methylation by array capture and single molecule bisulfite sequencing Emily Hodges 1 , 2 , 6 , Andrew D. Smith 1 , 3 , 6 , Jude Kendall 1 , Zhenyu Xuan 1 , Kandasamy Ravi 1 , Michelle...
  4. ...profiled DNA methylation and chromatin accessibility at 71 promoters and identified several classes of epigenetic heterogeneity as well as 29 promoters that were differentiallymethylated and/or differentially accessible between GBM and NSC. Strikingly, a subpopulation of cells exhibiting inaccessible...
  5. ...al. 2005, 2008), enrichment-based methods (MeDIPseq [Weber et al. 2005; Maunakea et al. 2010], MBD-seq [Serre et al. 2009]), and methylation-sensitive restriction enzyme based methods (HELP [Suzuki and Greally 2010], MRE-seq [Maunakea et al. 2010]). These methods yield largely concordant results...
  6. .... The paradigm of this method is the HELP (HpaII tiny fragment enrichment by ligation-mediated PCR) assay ( Khulan et al. 2006 ). DNA is digested in parallel with MspI (resistant to DNA methylation), and then the HpaII and MspI products are amplified by ligation-mediated PCR and hybridized using separate...
  7. ...component of the epi, cytosine methylation, a covalent modification of DNA that acts as a focal point in mechanisms that suppress transcription initiation (Klose and Bird 2006). We have compared the methylomes of human and chimpanzee in a homogeneous somatic cell type, the neutrophil, using the orangutan...
  8. ...for an instructive mechanism of de novo methylation in cancer cells . Nat. Genet. 38 : 149 – 153 . ↵ Khulan, B. , Thompson, R. , Ye, K. , Fazzari, M. , Suzuki, M. , Stasiek, E. , Figueroa, M. , Glass, J. , Chen, Q. , Montagna, C. , et al. ( 2006 ) Comparative isoschizomer profiling of cytosine methylation: The HELP...
  9. ...technology. It is based upon the historically most robust assay for DNA methylation—methyl-sensitive restriction enzymes ( Cedar et al. 1979 ). Here, we used the isoschizomers HpaII and MspI, which recognize the same cleavage site (5′-CCGG-3′); MspI digests at the site regardless of methylation status, while...
  10. .... 2006 ; Glass et al. 2007 ). The incorporation of experimental data, such as those presented here, will greatly assist in refining CGI definition and thereby help in understanding their function in the context of both promoter and nonpromoter regions of mammalian s. Association between DNA methylation...
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