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Africa
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Hair dysplasias
Published in Pierre Bouhanna, Eric Bouhanna, The Alopecias, 2015
Juan Ferrando, L. Alheli Niebla, Gerardo A. Moreno-Arias
Genetics. Mutations of TTD, ERCC2, C7orf11, ERCC3, GTF2H5, XPC, and GTF2H4 genes have been reported which were localized in 19q13.2-q13.3, 19q13.3, 7p14.1, 2q21, 6q25.3, 3p25, and 6p21.3, respectively.56–61
Further understanding of epigenetic dysfunction of the retinal pigment epithelium in AMD
Published in Expert Review of Ophthalmology, 2020
Sonali Nashine, Maria Cristina Kenney
TGF-β Signaling plays a vital role in oxidative stress-induced RPE cell senescence, RPE cell migration, induces VEGF, angiogenesis, and subsequent choroidal neovascularization in wet AMD. Although the distribution of TGF-β isoforms (TGF-β1, TGF-β2, and TGF-β3) is heterogeneous as all three isoforms are expressed in vitreous and aqueous humor in the human eye, TGF-β2 is the predominantly expressed isoform in RPE cells, Bruch’s membrane, and choroid [32,33]. This has been confirmed in various in vitro and in vivo studies of cultured RPE cells and primate ocular tissues. SKI is a proto-oncogene that represses TGF-β signaling by interacting with SMADs (acronym for Caenorhabditis elegans SMA (‘small’ worm phenotype) and Drosophila MAD (‘Mothers Against Decapentaplegic’) genes). In RPE cells, enhanced TGF-β signaling, which contributes to complement activation, corresponds to lower expression levels of SKI (Figure 3, Table 1). Genome-wide DNA methylation profiling using bisulfite-pyrosequencing in RPE cells obtained from AMD and normal human donor eyes revealed: a) significantly decreased expression of SKI gene in AMD RPE compared to normal RPE, b) differential methylation of CpG loci and differentially methylated locus cg18934822 in the SKI gene, c) enhancer signature H3K4me1 in the cg18934822 region and the CpG locus of SKI gene, and d) a differentially methylated locus cg22508626 within the gene GTF2H4 (General Transcription Factor IIH Subunit 4). It was speculated that alterations in DNA methylation within the SKI gene promoter result in complement dysfunction in AMD [34].