Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 103, Issue 52, Pages 19836-19841Publisher
NATL ACAD SCIENCES
DOI: 10.1073/pnas.0609628104
Keywords
adherens junctions; cardiovascular morphogenesis; angiogenesis; neural crest; neuronal migration
Categories
Funding
- NIMH NIH HHS [K01 MH065338, K01MH065338] Funding Source: Medline
- NINDS NIH HHS [P01NS40043, P01 NS040043] Funding Source: Medline
Ask authors/readers for more resources
Mutations in the human Filamin A (FLNA) gene disrupt neuronal migration to the cerebral cortex and cause cardiovascular defects. Complete loss of Flna in mice results in embryonic lethality with severe cardiac structural defects involving ventricles, atria, and outflow tracts, as well as widespread aberrant vascular patterning. Despite these widespread developmental defects, migration and motility of many cell types does not appear to be affected. instead, Flna-null embryos display abnormal epithelial and endothelial organization and aberrant adherens junctions in developing blood vessels, heart, brain, and other tissues. Essential roles for FLNA in intercellular junctions provide a mechanism for the diverse developmental defects seen in patients with FLNA mutations.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available