Article
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Nature genetics - 1 Apr 2003
Robertson Stephen P, Twigg Stephen R F, Sutherland-Smith Andrew J, Biancalana Valérie, Gorlin Robert J, Horn Denise, Kenwrick Susan J, Kim Chong A, Morava Eva, Newbury-Ecob Ruth, Orstavik Karen H, Quarrell Oliver W J, Schwartz Charles E, Shears Deborah J, Suri Mohnish, Kendrick-Jones John, Wilkie Andrew O M
Abstract excerpt
Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital...
Read the complete abstract on PubMedTopics
- Abnormalities, Multiple
- Alleles
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping