| A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome. | A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.
Qasim H, Khan H, Zeb H, Ahmad A, Ilyas M, Zahoor M, Umar MN, Ullah R, Ali EA. | 07/26/2024 |
| ETS homologous factor, controlled by lysine-specific demethylase 5B, suppresses clear cell renal cell carcinoma by inducing Filamin-B. | ETS homologous factor, controlled by lysine-specific demethylase 5B, suppresses clear cell renal cell carcinoma by inducing Filamin-B.
Wang F, Huang J, Zeng S, Pan Y, Zhou H. | 07/25/2024 |
| Filamin B restricts vaccinia virus spread and is targeted by vaccinia virus protein C4. | Filamin B restricts vaccinia virus spread and is targeted by vaccinia virus protein C4.
Georgana I, Scutts SR, Gao C, Lu Y, Torres AA, Ren H, Emmott E, Men J, Oei K, Smith GL., Free PMC Article | 03/24/2024 |
| Effect of disulfidptosis-related genes SLC3A2, SLC7A11 and FLNB polymorphisms on risk of autoimmune thyroiditis in a Chinese population. | Effect of disulfidptosis-related genes SLC3A2, SLC7A11 and FLNB polymorphisms on risk of autoimmune thyroiditis in a Chinese population.
Wang Q, Xiao Z, Hou Z, Li D. | 02/27/2024 |
| Actin-binding protein filamin B regulates the cell-surface retention of endothelial sphingosine 1-phosphate receptor 1. | Actin-binding protein filamin B regulates the cell-surface retention of endothelial sphingosine 1-phosphate receptor 1.
Zhao X, Kiyozuka K, Konishi A, Kawabata-Iwakawa R, Minamishima YA, Obinata H., Free PMC Article | 08/4/2023 |
| Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations. | Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.
Wu H, Wang Y, Chen X, Yao Y, Zhao W, Fang L, Sun X, Wang N, Jiang J, Gao L, Zhao J, Xu C., Free PMC Article | 07/23/2022 |
| Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion. | Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.
Quiggle A, Charng WL, Antunes L, Nikolov M, Bledsoe X, Hecht JT, Dobbs MB, Gurnett CA., Free PMC Article | 02/19/2022 |
| The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA. | The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA.
Liu C, Tang W, Zhao H, Yang S, Ren Z, Li J, Chen Y, Zhao X, Xu D, Zhao Y, Shen C. | 01/29/2022 |
| Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome. | Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
Fukushima K, Parthasarathy P, Wade EM, Morgan T, Gowrishankar K, Markie DM, Robertson SP., Free PMC Article | 08/21/2021 |
| Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis. | Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.
Jiang H, Liang S, He K, Hu J, Xu E, Lin T, Meng Y, Zhao J, Ma J, Gao R, Wang C, Yang F, Zhou X., Free PMC Article | 06/12/2021 |
| circRNAome Profiling in Oral Carcinoma Unveils a Novel circFLNB that Mediates Tumour Growth-Regulating Transcriptional Response. | circRNAome Profiling in Oral Carcinoma Unveils a Novel circFLNB that Mediates Tumour Growth-Regulating Transcriptional Response.
Chen YT, Chang IY, Kan CH, Liu YH, Kuo YP, Tseng HH, Chen HC, Liu H, Chang YS, Yu JS, Chang KP, Tan BC., Free PMC Article | 03/20/2021 |
| Studied expression levels of Filamin b (FLN-b) in the placenta of patients with pre-eclampsia (PE). Found down-regulation of FLN-b inhibits the ERK/matrix metallopeptidase 9 (MMP-9) pathways, leading to trophoblastic invasion disorders in the PE placenta. | Decreased Filamin b expression regulates trophoblastic cells invasion through ERK/MMP-9 pathway in pre-eclampsia.
Wei J, Fu Y, Mao X, Jing Y, Guo J, Ye Y. | 01/11/2020 |
| Our report validates key clinical (fused thoracic vertebrae and carpal and tarsal coalition) and molecular (truncating variants in FLNB) characteristics of this condition. | Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.
Salian S, Shukla A, Shah H, Bhat SN, Bhat VR, Nampoothiri S, Shenoy R, Phadke SR, Hariharan SV, Girisha KM. | 10/26/2019 |
| 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 | Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin.
Upadhyay K, Loke J, O V, Taragin B, Ostrer H. | 08/3/2019 |
| FLNB mutation is associated with Piepkorn type of osteochondrodysplasia. | Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.
Rehder H, Laccone F, Kircher SG, Schild RL, Rapp C, Bald R, Schulze B, Behunova J, Neesen J, Schoner K., Free PMC Article | 05/25/2019 |
| skipping of FLNB exon 30 is strongly associated with epithelial-to-mesenchymal transition gene signatures in basal-like breast cancer patient samples. | An alternative splicing switch in FLNB promotes the mesenchymal cell state in human breast cancer.
Li J, Choi PS, Chaffer CL, Labella K, Hwang JH, Giacomelli AO, Kim JW, Ilic N, Doench JG, Ly SH, Dai C, Hagel K, Hong AL, Gjoerup O, Goel S, Ge JY, Root DE, Zhao JJ, Brooks AN, Weinberg RA, Hahn WC., Free PMC Article | 03/2/2019 |
| 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. | Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing.
Seppälä J, Bernardi RC, Haataja TJK, Hellman M, Pentikäinen OT, Schulten K, Permi P, Ylänne J, Pentikäinen U., Free PMC Article | 01/12/2019 |
| 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. | Mechanisms and Effects on HBV Replication of the Interaction between HBV Core Protein and Cellular Filamin B.
Li Y, Sun Y, Sun F, Hua R, Li C, Chen L, Guo D, Mu J., Free PMC Article | 10/6/2018 |
| 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. | Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
Bernkopf M, Hunt D, Koelling N, Morgan T, Collins AL, Fairhurst J, Robertson SP, Douglas AGL, Goriely A., Free PMC Article | 05/12/2018 |
| 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. | Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
Yang CF, Wang CH, Siong H'ng W, Chang CP, Lin WD, Chen YT, Wu JY, Tsai FJ. | 07/1/2017 |
| 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. | Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.
Yang H, Zheng Z, Cai H, Li H, Ye X, Zhang X, Wang Z, Fu Q. | 05/20/2017 |
| 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 | Opposing FlnA and FlnB interactions regulate RhoA activation in guiding dynamic actin stress fiber formation and cell spreading.
Hu J, Lu J, Goyal A, Wong T, Lian G, Zhang J, Hecht JL, Feng Y, Sheen VL., Free PMC Article | 05/20/2017 |
| 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. | Differential expression of filamin B splice variants in giant cell tumor cells.
Tsui JC, Lau CP, Cheung AC, Wong KC, Huang L, Tsui SK, Kumta SM., Free PMC Article | 03/25/2017 |
| F-actin clustering through the interaction with the mutant FLNB actin-binding domain may limit the cytoskeletal reorganization, preventing normal skeletal development. | F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.
Zhao Y, Shapiro SS, Eto M., Free PMC Article | 05/7/2016 |
| FLNb enhances invasion of cancer cells through phosphorylation of MRLC and FAK. | Filamin B Enhances the Invasiveness of Cancer Cells into 3D Collagen Matrices.
Iguchi Y, Ishihara S, Uchida Y, Tajima K, Mizutani T, Kawabata K, Haga H. | 04/9/2016 |