Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation

Eitemau Tebyg

• CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine
  gan: Kolbe, Ernst-Wolfgang, et al.
  Cyhoeddwyd: (2013)
• An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion
  gan: Stanke, Frauke, et al.
  Cyhoeddwyd: (2011)
• Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34
  gan: Stanke, Frauke, et al.
  Cyhoeddwyd: (2010)
• A regulatory SNP modifies cystic fibrosis by disrupting NFκB complex binding on FAS
  gan: Awah, Chidiebere U, et al.
  Cyhoeddwyd: (2015)
• The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells
  gan: Stanke, Frauke, et al.
  Cyhoeddwyd: (2014)