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Article

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

Human molecular genetics - 15 Aug 2006

Hart Alan W, Morgan Joanne E, Schneider Jürgen, West Katrine, McKie Lisa, Bhattacharya Shoumo, Jackson Ian J, Cross Sally H

Abstract excerpt

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...

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Source

Identifiers

PMID: 16825286
DOI: 10.1093/hmg/ddl168

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Cardiac malformations and midline skeletal defects in mice lacking filamin A.PMID 16825286Read ↗

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

Molecular pathology of filamin A: diverse phenotypes, many functions.Semantic proximity Read ↗

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.Semantic proximity Read ↗

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