• Media type: E-Book; Thesis
  • Title: CHARGE syndrome: candidate genes and pathogenesis
  • Contributor: Schulz, Yvonne [Author]; Pauli, Silke [Other]; Engel, Wolfgang [Other]; Wodarz, Andreas [Other]; Mansouri, Ahmed [Other]; Wimmer, Ernst [Other]; Johnsen, Steven Prof. [Other]; Hoyer-Fender, Sigrid [Other]
  • Published: Göttingen, 2014
  • Extent: Online-Ressource; Ill
  • Language: English
  • Identifier:
  • Keywords: Hochschulschrift
  • Origination:
  • University thesis: Göttingen, Univ., Diss., 2014
  • Footnote:
  • Description: CHARGE syndrome is a complex malformation syndrome affecting several organ systems like the central nervous system, ear, eye and heart. Heterozygous loss of function mutations in CHD7, a conserved chromatin remodelling enzyme, are responsible to cause about two-thirds of CHARGE syndrome cases. CHD7 is present in large multi-subunit complexes regulating gene transcription in a time and cell type specific manner. In this work, it was shown by co-immunoprecipitation and Duolink proximity ligation assay that CHD7 interacts with the WAR complex members WDR5, ASH2L and RBBP5. Additional direct ye...
  • Access State: Open Access