Ontology highlight
ABSTRACT:
SUBMITTER: Jiang Q
PROVIDER: S-EPMC3169309 | biostudies-literature | 2009 Feb
REPOSITORIES: biostudies-literature
Jiang Qiujie Q Endo Masayuki M Dibra Florian F Wang Krystle K Uitto Jouni J
The Journal of investigative dermatology 20080814 2
Pseudoxanthoma elasticum (PXE) is a pleiotropic multisystem disorder affecting skin, eyes, and the cardiovascular system with progressive pathological mineralization. It is caused by mutations in the ABCC6 gene expressed primarily in the liver and kidneys, and at very low levels, if at all, in tissues affected by PXE. A question has arisen regarding the pathomechanism of PXE, particularly the "metabolic" versus the "PXE cell" hypotheses. We examined a murine PXE model (Abcc6(-/-)) by transplanti ...[more]