CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine

Míreanna Comhchosúla

• 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
  le: Stanke, Frauke, et al.
  Foilsithe: (2011)
• Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation
  le: Labenski, Heike, et al.
  Foilsithe: (2011)
• Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia
  le: Stanke, Frauke, et al.
  Foilsithe: (2010)
• A regulatory SNP modifies cystic fibrosis by disrupting NFκB complex binding on FAS
  le: Awah, Chidiebere U, et al.
  Foilsithe: (2015)
• Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34
  le: Stanke, Frauke, et al.
  Foilsithe: (2010)