Rubinstein-Taybi Syndrome and Epigenetic Alterations.

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to severe mental retardation (Rubinstein and Taybi, Am J Dis Child 105:588-608, 1963, Hennekam et al., Am J Med Genet Suppl 6:56-64, 1990). RSTS is caused by de novo mutations in epigenetics-associated genes, including the cAMP response element-binding protein...

Topics

• Acetylation
• Animals
• Brain
• CREB-Binding Protein
• Cognition
• Disease Models, Animal
• E1A-Associated p300 Protein
• Epigenesis, Genetic
• Gene Expression Regulation, Developmental
• Genetic Association Studies
• Histone Acetyltransferases
• Histone Code
• Histone Deacetylase Inhibitors
• Humans
• Invertebrates
• Mammals
• Memory
• Models, Neurological