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Article

Molecular pathology of filamin A: diverse phenotypes, many functions.

Clinical dysmorphology - 1 Jul 2004

Robertson Stephen P

Abstract excerpt

Defective cell signalling during embryonic development is a well-recognized modus operandi of mutations in genes that lead to congenital malformations. This signalling occurs within and around a dynamic cellular cytoskeleton that is continuously under modulating influences during morphogenesis. Evidence is accumulating to suggest that filamin A, an actin-binding protein and the product of one of three paralogous...

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Source

Identifiers

PMID: 15194946
DOI: 10.1097/01.mcd.0000130235.95356.40

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular pathology of filamin A: diverse phenotypes, many functions.PMID 15194946Read ↗

Filamin A: phenotypic diversity.Semantic proximity Read ↗

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.Semantic proximity Read ↗

The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.Semantic proximity Read ↗

Molecular basis of filamin A-FilGAP interaction and its impairment in congenital disorders associated with filamin A mutations.Semantic proximity Read ↗

The filamins: organizers of cell structure and function.Semantic proximity Read ↗

Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.Semantic proximity Read ↗

Filamin A in focus: unravelling the multifaceted roles of filamin A in neurodevelopment and neurological disordersSemantic proximity Read ↗

The function and pathogenic mechanism of filamin A.Semantic proximity Read ↗

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

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.Semantic proximity Read ↗

Filamin A: key actor in platelet biologySemantic proximity Read ↗

Filamin B mutations cause chondrocyte defects in skeletal development.Semantic proximity Read ↗

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