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Sökning: WFRF:(Sahlén Pelin) > (2022)

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  • Zaugg, Judith Barbara, et al. (författare)
  • Current challenges in understanding the role of enhancers in disease
  • 2022
  • Ingår i: Nature Structural & Molecular Biology. - : Nature Research. - 1545-9993 .- 1545-9985. ; 29:12, s. 1148-1158
  • Tidskriftsartikel (refereegranskat)abstract
    • Enhancers play a central role in the spatiotemporal control of gene expression and tend to work in a cell-type-specific manner. In addition, they are suggested to be major contributors to phenotypic variation, evolution and disease. There is growing evidence that enhancer dysfunction due to genetic, structural or epigenetic mechanisms contributes to a broad range of human diseases referred to as enhanceropathies. Such mechanisms often underlie the susceptibility to common diseases, but can also play a direct causal role in cancer or Mendelian diseases. Despite the recent gain of insights into enhancer biology and function, we still have a limited ability to predict how enhancer dysfunction impacts gene expression. Here we discuss the major challenges that need to be overcome when studying the role of enhancers in disease etiology and highlight opportunities and directions for future studies, aiming to disentangle the molecular basis of enhanceropathies.
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2.
  • Zhigulev, Artemy, et al. (författare)
  • Targeted Chromosome Conformation Capture (HiCap)
  • 2022
  • Ingår i: Spatial Genome Organization. - New York, NY : Springer Nature. ; , s. 75-94
  • Bokkapitel (refereegranskat)abstract
    • Targeted chromosome conformation capture (HiCap) is an experimental method for detecting spatial interactions of genomic features such as promoters and/or enhancers. The protocol first describes the design of sequence capture probes. After that, it provides details on the chromosome conformation capture adapted for next-generation sequencing (Hi-C). Finally, the methodology for coupling Hi-C with sequence capture technology is described. 
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  • Resultat 1-3 av 3

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