Article
A Runx2 threshold for the cleidocranial dysplasia phenotype.
Human molecular genetics - 1 Feb 2009
Lou Yang, Javed Amjad, Hussain Sadiq, Colby Jennifer, Frederick Dana, Pratap Jitesh, Xie Ronglin, Gaur Tripti, van Wijnen Andre J, Jones Stephen N, Stein Gary S, Lian Jane B, Stein Janet L
Abstract excerpt
Cleidocranial dysplasia (CCD) in humans is an autosomal-dominant skeletal disease that results from mutations in the bone-specific transcription factor RUNX2 (CBFA1/AML3). However, distinct RUNX2 mutations in CCD do not correlate with the severity of the disease. Here we generated a new mouse model with a hypomorphic Runx2 mutant allele (Runx2(neo7)), in which only part of the transcript is processed to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.