Cardiac malformations and midline skeletal defects in mice lacking filamin A.

@article{Hart2006CardiacMA,
  title={Cardiac malformations and midline skeletal defects in mice lacking filamin A.},
  author={Alan W Hart and Joanne E. Morgan and J{\"u}rgen Schneider and Katrine West and Lisa Mckie and Shoumo Bhattacharya and Ian J Jackson and Sally H. Cross},
  journal={Human molecular genetics},
  year={2006},
  volume={15 16},
  pages={2457-67}
}
The X-linked gene filamin A (Flna) encodes a widely expressed actin-binding protein that crosslinks actin into orthogonal networks and interacts with a variety of other proteins including membrane proteins, integrins, transmembrane receptor complexes and second messengers, thus forming an important intracellular signalling scaffold. Heterozygous loss of function of human FLNA causes periventricular nodular heterotopia in females and is generally lethal (cause unknown) in hemizygous males… CONTINUE READING
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