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Journal article

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

Abstract:

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. Mis...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddl168

Authors


Morgan, JE More by this author
Schneider, J More by this author
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Journal:
Human molecular genetics
Volume:
15
Issue:
16
Pages:
2457-2467
Publication date:
2006-08-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:d1b3caaa-4504-4700-8b83-3aebf72114a1
Source identifiers:
110466
Local pid:
pubs:110466

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