Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

Lignende værker

• Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1
  af: Crisponi, Laura, et al.
  Udgivet: (2007)
• The Forkhead Transcription Factor Foxl2 Is Sumoylated in Both Human and Mouse: Sumoylation Affects Its Stability, Localization, and Activity
  af: Marongiu, Mara, et al.
  Udgivet: (2010)
• The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.
  af: Mara Marongiu, et al.
  Udgivet: (2010-03-01)
• Novel action of FOXL2 as mediator of Col1a2 gene autoregulation
  af: Marongiu, Mara, et al.
  Udgivet: (2016)
• Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
  af: Angius, Andrea, et al.
  Udgivet: (2016)