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A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.
Serpen JY, Presley W, Beil A, Armenti ST, Johnson K, Mian SI, Innis JW, Prasov L. Serpen JY, et al. Genes (Basel). 2023 May 1;14(5):1034. doi: 10.3390/genes14051034. Genes (Basel). 2023. PMID: 37239394 Free PMC article.
RNAseq analysis from an affected corneal epithelial sample from the proband's brother revealed downregulation of XPO4, IFT88, ZDHHC20, LATS2, SAP18, and EEF1AKMT1 within the microdeletion interval, with no notable effect on the expression of nearby genes. ...
RNAseq analysis from an affected corneal epithelial sample from the proband's brother revealed downregulation of XPO4, IFT88, ZDHHC20, LATS2 …
METTL21B Is a Novel Human Lysine Methyltransferase of Translation Elongation Factor 1A: Discovery by CRISPR/Cas9 Knockout.
Hamey JJ, Wienert B, Quinlan KGR, Wilkins MR. Hamey JJ, et al. Mol Cell Proteomics. 2017 Dec;16(12):2229-2242. doi: 10.1074/mcp.M116.066308. Epub 2017 Jun 29. Mol Cell Proteomics. 2017. PMID: 28663172 Free PMC article.
Here we used the CRISPR/Cas9 system to knockout putative protein methyltransferases METTL21B and METTL23 in K562 cells, to determine if they methylate elongation factor eEF1A. The known eEF1A methyltransferase EEF1AKMT1 was also knocked out as a control. Targeted mass spec …
Here we used the CRISPR/Cas9 system to knockout putative protein methyltransferases METTL21B and METTL23 in K562 cells, to determine if they …