Chromatin structure and its changes or maintenance throughout developmental checkpoints play indispensable role in organismal homeostasis. Chromatin remodeling factors of the SWI/SNF2 superfamily use ATP hydrolysis to change DNA-protein contacts, and their loss-of-function or inappropriate increase leads to distinct human pathologic states. In this review, we focus on the translational view of human pathologic physiology involving SWI/SNF2 superfamily, combining latest finding from basic and clinical research. We discuss in mechanistic terms the consequences resulting from dose alteration of the SWI/SNF2 superfamily ATPases and emphasize the necessity of future human subject-based studies.

• MeSH
• chromatin metabolismus   MeSH
• chromozomální proteiny, nehistonové metabolismus   MeSH
• DNA nádorová metabolismus   MeSH
• DNA-helikasy genetika   metabolismus   MeSH
• DNA metabolismus   MeSH
• financování organizované MeSH
• genetické nemoci vrozené genetika   metabolismus   MeSH
• histony metabolismus   MeSH
• jaderné proteiny genetika   metabolismus   MeSH
• leukemie genetika   metabolismus   MeSH
• lidé MeSH
• nádory genetika   metabolismus   MeSH
• transkripční faktory genetika   metabolismus   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH