Flnb

Summary

Gene Symbol: Flnb
Description: filamin B
Alias: filamin-B, filamin B, beta, filamin, beta
Species: rat
Products:     Flnb

Top Publications

  1. Farrington Rock C, Firestein M, Bicknell L, Superti Furga A, Bacino C, Cormier Daire V, et al. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006;27:705-10 pubmed
    ..Mutations in the gene encoding filamin B (FLNB) cause a spectrum of osteochondrodysplasias, including atelosteogenesis type I (AOI) and atelosteogenesis ..
  2. Bicknell L, Farrington Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007;44:89-98 pubmed
    ..shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with ..
  3. Yang H, Zheng Z, Cai H, Li H, Ye X, Zhang X, et al. Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. Hum Genet. 2016;135:1181-9 pubmed publisher
    ..A putative pathogenic mutation c.4717G>T (p.D1573Y) in the filamin B (FLNB) gene, which co-segregated with CETV, was identified in the pedigree...
  4. Folgueras A, Guo X, Pasolli H, Stokes N, Polak L, Zheng D, et al. Architectural niche organization by LHX2 is linked to hair follicle stem cell function. Cell Stem Cell. 2013;13:314-27 pubmed publisher
    ..These findings suggest that niche organization underlies the requirement for LHX2 in hair follicle structure and function. ..
  5. Bicknell L, Morgan T, Bonafe L, Wessels M, Bialer M, Willems P, et al. Mutations in FLNB cause boomerang dysplasia. J Med Genet. 2005;42:e43 pubmed
    ..shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia...
  6. van der Flier A, Kuikman I, Kramer D, Geerts D, Kreft M, Takafuta T, et al. Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits. J Cell Biol. 2002;156:361-76 pubmed
    ..These findings suggest that specific combinations of filamin mRNA splicing events modulate the organization of the actin cytoskeleton and the binding affinity for integrins. ..
  7. Sheen V, Feng Y, Graham D, Takafuta T, Shapiro S, Walsh C. Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum Mol Genet. 2002;11:2845-54 pubmed
    ..Here we characterize expression patterns for FlnA and a highly homologous protein Filamin B (FlnB) within the nervous system, in order to better understand their potential roles in cortical development...
  8. Krakow D, Robertson S, King L, Morgan T, Sebald E, Bertolotto C, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004;36:405-10 pubmed
    ..1,2). We identified mutations in the gene encoding filamin B in four human skeletal disorders...
  9. Bouvard D, Pouwels J, De Franceschi N, Ivaska J. Integrin inactivators: balancing cellular functions in vitro and in vivo. Nat Rev Mol Cell Biol. 2013;14:430-42 pubmed publisher

More Information

Publications10

  1. Farrington Rock C, Kirilova V, Dillard Telm L, Borowsky A, Chalk S, Rock M, et al. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum Mol Genet. 2008;17:631-41 pubmed
    ..SCT results from homozygosity or compound heterozygosity for nonsense mutations in FLNB. FLNB encodes filamin B, a multifunctional cytoplasmic protein that plays a critical role in skeletal development...