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Proc Natl Acad Sci U S A. 2006 Dec 26;103(52):19836-41. Epub 2006 Dec 15.

Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis.

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1
Division of Genetics and Department of Cardiology, Children's Hospital Boston, Boston, MA 02215, USA.

Abstract

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.

PMID:
17172441
PMCID:
PMC1702530
DOI:
10.1073/pnas.0609628104
[Indexed for MEDLINE]
Free PMC Article
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