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Current challenges in understanding the role of enhancers in disease
JB. Zaugg, P. Sahlén, R. Andersson, M. Alberich-Jorda, W. de Laat, B. Deplancke, J. Ferrer, S. Mandrup, G. Natoli, D. Plewczynski, A. Rada-Iglesias, S. Spicuglia
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, přehledy, práce podpořená grantem
NLK
ProQuest Central
od 1997-02-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 1997-02-01 do Před 1 rokem
- MeSH
- epigeneze genetická * MeSH
- lidé MeSH
- zesilovače transkripce * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
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.
Centre for Genomic Regulation the Barcelona Institute of Science and Technology Barcelona Spain
Centro de Investigación Biomédica en red Diabetes y enfermedades metabólicas asociadas Madrid Spain
Department of Hemato oncology Institute of Molecular Genetics of the CAS Prague Czech Republic
Department of Metabolism Digestion and Reproduction Imperial College London London UK
Equipe Labellisée LIGUE Contre le Cancer Marseille France
European Molecular Biology Laboratory Heidelberg Germany
Hubrecht Institute KNAW Oncode Institute and University Medical Center Utrecht Utrech Netherlands
IEO European Institute of Oncology IRCCS Milan Italy
Institute of Biomedicine and Biotechnology of Cantabria CSIC University of Cantabria Santander Spain
Science for Life Laboratory KTH Royal Institute of Technology Solna Sweden
TAGC UMR 1090 Aix Marseille University INSERM Marseille France
Citace poskytuje Crossref.org
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