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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 (show FLNA ELISA Kits) more strongly binds RhoA (show RHOA ELISA Kits), although both filamins overlap with RhoA (show RHOA ELISA Kits) expression in the cell cytoplasm. FlnA (show FLNA ELISA Kits) promotes RhoA (show RHOA ELISA Kits) activation whereas FlnB indirectly inhibits this pathway. Moreover, FlnA (show FLNA ELISA Kits) 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 (show PTK2 ELISA Kits).
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 (show BEST1 ELISA Kits) 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 (show VEGFA ELISA Kits) and PKC promote degradation-independent protein ubiquitination of FLNB to control intracellular trafficking of HDAC7 (show HDAC7 ELISA Kits).
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.
These findings indicate that FLNB is involved in attenuation of TGFb/BMP signaling and influences annulus fibrosus cell fate
Fmn1 (show FMN1 ELISA Kits) 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 (show CDK1 ELISA Kits) phosphorylation (an inhibitor of G2/M phase progression) and Cdk1 (show CDK1 ELISA Kits) inhibition in chondrocytes mimicked the null FlnB, premature differentiation phenotype, through a beta1-integrin receptor- Pi3k/Akt (show AKT1 ELISA Kits) mediated pathway.
these data demonstrate that coordinated expression of GPIbalpha (show GP1BA ELISA Kits) and filamin (show FLNA ELISA Kits) is required for efficient trafficking of either protein to the cell surface, and for production of normal-sized platelets.
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 (show MMRN1 ELISA Kits)-beta1-integrin-Flnb pathway contributes to defects in vertebral and distal limb development, similar to those seen in the human autosomal recessive SCT (show SECR ELISA Kits) due to Flnb mutations
Flnb represses chondrocyte hypertrophy in a Runx2 (show RUNX2 ELISA Kits)/Smad3 (show SMAD3 ELISA Kits)-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