Publications by authors named "Laura Witteveen"
Article Synopsis
- CREB-binding protein (CBP) and E1A-associated protein (p300) are crucial for histone acetylation and gene regulation; mutations in these proteins lead to conditions like Rubinstein-Taybi syndrome (RSTS) and Menke-Hennekam syndrome (MKHK).
- A study on 82 individuals with CBP/p300 variants revealed distinct phenotypes and identified three subtypes of MKHK based on specific protein domains (ZZ, TAZ2, and ID4), rather than the genes themselves.
- DNA methylation profiles showed characteristic patterns associated with the different protein domains, allowing for better classification and understanding of the molecular mechanisms behind these syndromes.
