In Vitro Studies of Novel PRKAR1A Mutants that Extend the Predicted RIα Protein Sequence into the 3′-Untranslated Open Reading Frame: Proteasomal Degradation Leads to RIα Haploinsufficiency and Carney Complex

Lignende værker

• Carney complex and lentiginosis
  af: Horvath, Anelia, et al.
  Udgivet: (2009)
• A Large Family with Carney Complex Caused by the S147G PRKAR1A Mutation Shows a Unique Spectrum of Disease Including Adrenocortical Cancer
  af: Anselmo, João, et al.
  Udgivet: (2012)
• Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a(+/−) mice
  af: Liu, Sisi, et al.
  Udgivet: (2015)
• Activation of Cyclic AMP Signaling Leads to Different Pathway Alterations in Lesions of the Adrenal Cortex Caused by Germline PRKAR1A Defects versus Those due to Somatic GNAS Mutations
  af: Almeida, Madson Q., et al.
  Udgivet: (2012)
• Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice
  af: Veugelers, Mark, et al.
  Udgivet: (2004)