Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

Antzeko izenburuak

• Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
  nork: Raimondo, Anne, et al.
  Argitaratua: (2014)
• Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology
  nork: Antosik, Karolina, et al.
  Argitaratua: (2015)
• Update on mutations in glucokinase (<i>GCK</i>), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
  nork: Kara Osbak, et al.
  Argitaratua: (2009)
• Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans
  nork: Gašperíková, Daniela, et al.
  Argitaratua: (2009)
• Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
  nork: Henrik Thybo Christesen, et al.
  Argitaratua: (2008)