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Li, V. FLNB Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5564 (accessed on 21 September 2026).
Li V. FLNB Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5564. Accessed September 21, 2026.
Li, Vivi. "FLNB Gene" Encyclopedia, https://encyclopedia.pub/entry/5564 (accessed September 21, 2026).
Li, V. (2020, December 25). FLNB Gene. In Encyclopedia. https://encyclopedia.pub/entry/5564
Li, Vivi. "FLNB Gene." Encyclopedia. Web. 25 December, 2020.
FLNB Gene
Edit

Filamin B

genes

References

  1. Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y,Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. A molecular andclinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007 Feb;44(2):89-98.
  2. Bicknell LS, Morgan T, Bonafé L, Wessels MW, Bialer MG, Willems PJ, Cohn DH,Krakow D, Robertson SP. Mutations in FLNB cause boomerang dysplasia. J Med Genet.2005 Jul;42(7):e43.
  3. Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA,Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul;27(7):705-10.
  4. Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C,David A, Jacquemont S. Autosomal dominant spondylocarpotarsal synostosissyndrome: phenotypic homogeneity and genetic heterogeneity. Am J Med Genet A.2008 Jun 15;146A(12):1593-7. doi: 10.1002/ajmg.a.32217.
  5. Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C,Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H,Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A,Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations inthe gene encoding filamin B disrupt vertebral segmentation, joint formation andskeletogenesis. Nat Genet. 2004 Apr;36(4):405-10.
  6. Li GH, Kung AW, Huang QY. Common variants in FLNB/CRTAP, not ARHGEF3 at 3p,are associated with osteoporosis in southern Chinese women. Osteoporos Int. 2010 Jun;21(6):1009-20. doi: 10.1007/s00198-009-1043-6.
  7. Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. Disease-associatedsubstitutions in the filamin B actin binding domain confer enhanced actin bindingaffinity in the absence of major structural disturbance: Insights from thecrystal structures of filamin B actin binding domains. J Mol Biol. 2009 Jul31;390(5):1030-47. doi: 10.1016/j.jmb.2009.06.009.
  8. Wilson SG, Jones MR, Mullin BH, Dick IM, Richards JB, Pastinen TM, GrundbergE, Ljunggren O, Surdulescu GL, Dudbridge F, Elliott KS, Cervino AC, Spector TD,Prince RL. Common sequence variation in FLNB regulates bone structure in women inthe general population and FLNB mRNA expression in osteoblasts in vitro. J BoneMiner Res. 2009 Dec;24(12):1989-97. doi: 10.1359/jbmr.090530.
  9. Yang CF, Wang CH, Siong H'ng W, Chang CP, Lin WD, Chen YT, Wu JY, Tsai FJ.Filamin B Loss-of-Function Mutation in Dimerization Domain CausesAutosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.Hum Mutat. 2017 May;38(5):540-547. doi: 10.1002/humu.23186.
  10. Zhang D, Herring JA, Swaney SS, McClendon TB, Gao X, Browne RH, Rathjen KE,Johnston CE, Harris S, Cain NM, Wise CA. Mutations responsible for Larsensyndrome cluster in the FLNB protein. J Med Genet. 2006 May;43(5):e24.
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