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Our report validates key clinical (fused thoracic vertebrae and carpal and tarsal coalition) and molecular (truncating variants in FLNB) characteristics of this condition.
These mutations increased binding of FLNB protein to the MAP3K1 and RAC1 signal transduction complex and activated beta-catenin and had different effects on phosphorylation of MAP kinase pathway intermediates and SOX9 expression. Direct activation of beta-catenin through the FLNB-MAP3K1-RAC1 complex by FLNB mutations is a novel mechanism for causing 46,XY gonadal dysgenesis
FLNB mutation is associated with Piepkorn type of osteochondrodysplasia.
skipping of FLNB exon 30 is strongly associated with epithelial-to-mesenchymal transition gene signatures in basal-like breast cancer patient samples.
Data show mutations in Filamin genes known to cause Larsen syndrome and Frontometaphyseal dysplasia can affect the structure and therefore function of Filamin domains 16 and 17.
In conclusion, the authors identify filamin B as a novel host factor that can interact with core protein to promote hepatitis B virus replication in hepatocytes.
We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA.
This is the first identified mutation in the dimerization domain of FLNB. This loss-of-function frameshift mutation in FLNB causes autosomal-recessive SCT with rarely reported rib anomalies. This report demonstrates the involvement of rib anomaly in SCT and its causative mutation in the dimerization domain of FLNB.
Our results provide evidence for the involvement of FLNB in the pathogenesis of isolated Congenital talipes equinovarusand have expanded the clinical spectrum of FLNB mutations.
FlnA more strongly binds RhoA, although both filamins overlap with RhoA expression in the cell cytoplasm. FlnA promotes RhoA activation whereas FlnB indirectly inhibits this pathway. Moreover, FlnA loss leads to diminished expression of b1-integrin, whereas FlnB loss promotes integrin expression
splicing variants of FLNB are differentially expressed in giant cell tumor cells and may play a role in the proliferation and differentiation of tumor cells.
F-actin clustering through the interaction with the mutant FLNB actin-binding domain may limit the cytoskeletal reorganization, preventing normal skeletal development.
FLNb enhances invasion of cancer cells through phosphorylation of MRLC and FAK.
Polymorphism at rs11720285, rs11130605 and rs9809315, all of which are located either 5' of the transcription start site or in intron 1 of the FLNB gene has been identified as significantly associated with BMD in Caucasian women.
study presents two patients with Atelosteogenesis Type I caused by two novel Filamin B (FLNB) mutations affecting the same FLNB residue: c.542G > A, predicting p.Gly181Asp and c.542G > C, predicting p.Gly181Arg
VEGF and PKC promote degradation-independent protein ubiquitination of FLNB to control intracellular trafficking of HDAC7.
The structure reveals a new hinge in the linker region between actin binding domain (ABD) and the first filamin repeat that is ideally positioned to orient the ABD for actin binding.
study indicates that filamins are important regulators of polycystin-2 channel function, and further links actin cytoskeletal dynamics to the regulation of this channel protein
skeletal dysplasias -associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
these data demonstrate that coordinated expression of GPIbalpha and filamin is required for efficient trafficking of either protein to the cell surface, and for production of normal-sized platelets.
this study finds highest filamin B editing levels in skeletal muscles, cartilage and bones, tissues where Filamin B function seems most important.
These findings indicate that FLNB is involved in attenuation of TGFb/BMP signaling and influences annulus fibrosus cell fate
Fmn1 and FlnB have shared and independent functions.
Filamin a, b-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeleton.
FlnB loss reduced Cdk1 phosphorylation (an inhibitor of G2/M phase progression) and Cdk1 inhibition in chondrocytes mimicked the null FlnB, premature differentiation phenotype, through a beta1-integrin receptor- Pi3k/Akt mediated pathway.
Filamins A and B have a major role in the maintenance of actin-based mechanical linkages that enable endoplasmic spreading and microtubule extension as well as sustained traction forces and mature focal adhesions.
Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development
disruption of the ECM-beta1-integrin-Flnb pathway contributes to defects in vertebral and distal limb development, similar to those seen in the human autosomal recessive SCT due to Flnb mutations
Flnb represses chondrocyte hypertrophy in a Runx2/Smad3-dependent manner.
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synotosis syndrome.
This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3\; boomerang dysplasia\; autosomal dominant Larsen syndrome\; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.
, Larsen syndrome 1 (autosomal dominant)
, actin binding protein 278
, actin-binding-like protein
, filamin homolog 1
, thyroid autoantigen
, filamin B, beta (actin binding protein 278)
, retina filamin
, filamin B, beta
, filamin, beta
, ABP-280-like protein
, filamin B beta