Ontology highlight
ABSTRACT:
SUBMITTER: Collette NM
PROVIDER: S-EPMC3435175 | biostudies-other | 2012 Aug
REPOSITORIES: biostudies-other
Collette Nicole M NM Genetos Damian C DC Economides Aris N AN Xie LiQin L Shahnazari Mohammad M Yao Wei W Lane Nancy E NE Harland Richard M RM Loots Gabriela G GG
Proceedings of the National Academy of Sciences of the United States of America 20120810 35
The Wnt antagonist Sost has emerged as a key regulator of bone homeostasis through the modulation of Lrp4/5/6 Wnt coreceptors. In humans, lack of Sclerostin causes sclerosteosis and van Buchem (VB) disease, two generalized skeletal hyperostosis disorders that result from hyperactive Wnt signaling. Unlike sclerosteosis, VB patients lack SOST coding mutations but carry a homozygous 52 kb noncoding deletion that is essential for the transcriptional activation of SOST in bone. We recently identified ...[more]