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Cow (Bovine) Polyclonal FLNB Primary Antibody for ELISA - ABIN251696
Takafuta, Wu, Murphy, Shapiro: Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha. in The Journal of biological chemistry 1998
Human Polyclonal FLNB Primary Antibody for IHC, IHC (p) - ABIN4311948
Stadler, Hjelmare, Neumann, Jonasson, Pepperkok, Uhlén, Lundberg: Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy. in Journal of proteomics 2012
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 (show FLNA Antibodies) more strongly binds RhoA (show RHOA Antibodies), although both filamins overlap with RhoA (show RHOA Antibodies) expression in the cell cytoplasm. FlnA (show FLNA Antibodies) promotes RhoA (show RHOA Antibodies) activation whereas FlnB indirectly inhibits this pathway. Moreover, FlnA (show FLNA Antibodies) 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 Antibodies).
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 Antibodies) 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 Antibodies) and PKC (show PRRT2 Antibodies) promote degradation-independent protein ubiquitination of FLNB to control intracellular trafficking of HDAC7 (show HDAC7 Antibodies).
These findings indicate that FLNB is involved in attenuation of TGFb/BMP signaling and influences annulus fibrosus cell fate
Fmn1 (show FMN1 Antibodies) 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 Antibodies) phosphorylation (an inhibitor of G2/M phase progression) and Cdk1 (show CDK1 Antibodies) inhibition in chondrocytes mimicked the null FlnB, premature differentiation phenotype, through a beta1-integrin receptor- Pi3k/Akt (show AKT1 Antibodies) mediated pathway.
these data demonstrate that coordinated expression of GPIbalpha (show GP1BA Antibodies) and filamin (show FLNA Antibodies) 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 Antibodies)-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 Antibodies) due to Flnb mutations
Flnb represses chondrocyte hypertrophy in a Runx2 (show RUNX2 Antibodies)/Smad3 (show SMAD3 Antibodies)-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