Diseases with signaling and transcriptional abnormalities

Abstract

Tuberous sclerosis, neurofibromatosis 1 and 2, hereditary hem-orrhagic telangiectasia, anhidrotic ectodermal dysplasia, and icon-tinentia pigmenti are pathological processes that affect signal transduction and transcriptional regulation. Elucidation of the molecular defects underlying these disorders has led to a better understanding of the mechanisms by which the skin and other organ systems develop and regulate cell growth and differentiation. © 2006 Humana Press Inc.