Transcription factors in disease.

Abstract excerpt

Mutations affecting several predominantly tissue-specific transcriptional regulators have recently been associated with disease phenotypes. Although the mutational spectrum is variable, many of the reported cases involve clear loss-of-function mutations-such as Waardenburg syndrome type 1, aniridia and Rubinstein-Taybi syndrome-suggesting that the genetic mechanism involved in disease is haplo-insufficiency. The...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cell Movement
• Share to DNA-Binding Proteins
• Share to Eye Proteins