Cerebral cavernous malformations arise independent of the heart of glass receptor.
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ABSTRACT:
SUBMITTER: Zheng X
PROVIDER: S-EPMC4006321 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Publications
Cerebral cavernous malformations arise independent of the heart of glass receptor.
Zheng Xiangjian X Riant Florence F Bergametti Françoise F Myers Cynthia D CD Tang Alan T AT Kleaveland Benjamin B Pan Wei W Yang Jisheng J Tournier-Lasserve Elisabeth E Kahn Mark L ML
Stroke 20140318 5
<h4>Background and purpose</h4>The Heart of Glass (HEG) receptor binds KRIT1 and functions with KRIT1, CCM2, and PDCD10 in a common signaling pathway required for heart and vascular development. Mutations in KRIT1, CCM2, and PDCD10 also underlie human cerebral cavernous malformation (CCM) and postnatal loss of these genes in the mouse endothelium results in rapid CCM formation. Here, we test the role of HEG in CCM formation in mice and in humans.<h4>Methods</h4>We constitutively or conditionally ...[more]
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