Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans-Reference-Cited by-同舟云学术

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Published:2003-03-03 Issue:4 Volume:33 Page:487-491
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

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,Ørstavik Karen H.,Quarrell Oliver W.J.,Schwartz Charles E.,Shears Deborah J.,Suri Mohnish,Kendrick-Jones John,Wilkie Andrew O.M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1119.pdf

Reference29 articles.

1. Stossel, T.P. et al. Filamins as integrators of cell mechanics and signalling. Nat. Rev. Mol. Cell Biol. 2, 138–145 (2001).

2. van der Flier, A. & Sonnenberg, A. Structural and functional aspects of filamins. Biochim. Biophys. Acta 1538, 99–117 (2001).

3. Fox, J.W. et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21, 1315–1325 (1998).

4. Eksioglu, Y.Z. et al. Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 16, 77–87 (1996).

5. Sheen, V.L. et al. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum. Mol. Genet. 10, 1775–1783 (2001).

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