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  1. ...at Nationwide Children's Hospital, Columbus, Ohio 43205, USA Corresponding author: Parthun.1@osu.eduAbstractA large fraction of the interacts with the nuclear periphery through lamina-associated domains (LADs), repressive regions which play an important role in organization and gene regulation across...
  2. ...in heterochromatin that are completely reproduced in aging liver.Several studies have reported changes at the nuclear lamina in patients with metabolic disease and NAFLD. Genetic variants in the nuclear lamina-related genes ZMPSTE24 and TMPO, which encode the lamina-associated polypeptide-2 (LAP2), have been...
  3. ...was below the threshold (see Methods).FIE genes showed signals of positive selection, assessed using dN/dS (Fig. 2A; Supplemental Note 4), indicating significant enrichment in missense, nonsense, splice, and truncating mutations compared with synonymous variants. Pancancer FIEs showed positive cancer effect...
  4. ...–specific, and changes during development in coordination with gene expression. Moreover, RT alterations are linked to abnormal gene expression, instability, and structural variation in multiple diseases, including cancer. However, mechanistic links between RT, large-scale 3D architecture, and transcriptional regulation...
  5. ..., Domrachev M, Lash AE. 2002. Gene Expression Omnibus: NCBI gene expression and hybridization array data repository. Nucleic Acids Res 30: 207–210. Gesson K, Vidak S, Foisner R. 2014. Lamina-associated polypeptide (LAP)2α and nucleoplasmic lamins in adult stem cell regulation and disease. Semin Cell Dev Biol...
  6. ...experimentally validated as TFs involved in regulatory functions within CD4 naive cells, even though they were not explicitly designated as TFs during the training phase. Among the remaining six genes, ETV3L, a member of the ETS TF family, has not yet been explicitly characterized in the context of CD4 naive...
  7. ...beads. To focus on individual candidate genes predicted to be bound by the protein of interest, precipitated DNA can be analyzed using qPCR with primers designed specifically against the regulatory sequences of the GOIs. Alternatively, in ChIP-seq following precipitation, cross-links are reversed...
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  8. ...), or in controlling alternative splicing in male sex cells of meiosis factor MPS1 (AT5G57880) (Walker et al. 2018). Many genes (10%–20%) (Zhang et al. 2020) in euchromatic arms also harbor DNA methylation but only in the CG context, located in the gene body with a modest bias toward the 3′ end, called gene body...
  9. ...in our minigene splicing assays, categorized according to the original MES-based selection criteria (Vallée et al. 2016). (B) Number of variants with alternative transcript products correctly predicted by the updated SpliceAI-10k calculator (SAI-10k-calc). (C,D) Illustration of cryptic donor or acceptor...
  10. ...(Saponaro et al. 2014). Factors involved in cotranscriptional RNA processing have also been shown to impact elongation rate. The splicing regulator SRSF2 (also known as SC35) promotes transcription elongation in a gene-specific manner (Lin et al. 2008), and U1 small nuclear ribonucleoprotein (U1 sn...
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