Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Filamin B: The next hotspot in skeletal research?

Journal of genetics and genomics = Yi chuan xue bao - 20 Jul 2017

Xu Qiming, Wu Nan, Cui Lijia, Wu Zhihong, Qiu Guixing

Abstract excerpt

Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO),...

Topics

Animals
Disease
Filamins
Humans
Mutation
Skeleton

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28739045
DOI: 10.1016/j.jgg.2017.04.007

Genes

FLNB
IVD
SCT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Filamin B: The next hotspot in skeletal research?PMID 28739045Read ↗

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

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

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular developmentSemantic proximity Read ↗

The filamin-B–refilin axis – spatiotemporal regulators of the actin-cytoskeleton in development and diseaseSemantic proximity Read ↗

Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and in silico functional characterization.Semantic proximity Read ↗

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

Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.Semantic proximity Read ↗

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

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

A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.Semantic proximity Read ↗

TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral FusionsSemantic proximity Read ↗

Mutations in FLNB cause boomerang dysplasia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.