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Article

Filamin B mutations cause chondrocyte defects in skeletal development.

Human molecular genetics - 15 Jul 2007

Lu Jie, Lian Gewei, Lenkinski Robert, De Grand Alec, Vaid R Roy, Bryce Thomas, Stasenko Marina, Boskey Adele, Walsh Christopher, Sheen Volney

Abstract excerpt

Filamin B (FLNB) is a cytoplasmic protein that regulates the cytoskeletal network by cross-linking actin, linking cell membrane to the cytoskeleton and regulating intracellular signaling pathways responsible for skeletal development (Stossel, T.P., Condeelis, J., Cooley, L., Hartwig, J.H., Noegel, A., Schleicher, M. and Shapiro, S.S. (2001) Filamins as integrators of cell mechanics and signalling. Nat. Rev. Mol....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17510210
DOI: 10.1093/hmg/ddm114

Genes

FLNB
SCT

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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Filamin B mutations cause chondrocyte defects in skeletal development.PMID 17510210Read ↗

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Filamin B regulates chondrocyte proliferation and differentiation through Cdk1 signaling.Semantic proximity Read ↗

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.Semantic proximity Read ↗

Mutations in two regions of<i>FLNB</i>result in atelosteogenesis I and IIISemantic proximity Read ↗

Mutations in FLNB cause boomerang dysplasia.Semantic proximity Read ↗

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

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