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Li, V. FLNA Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5543 (accessed on 21 September 2026).
Li V. FLNA Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5543. Accessed September 21, 2026.
Li, Vivi. "FLNA Gene" Encyclopedia, https://encyclopedia.pub/entry/5543 (accessed September 21, 2026).
Li, V. (2020, December 25). FLNA Gene. In Encyclopedia. https://encyclopedia.pub/entry/5543
Li, Vivi. "FLNA Gene." Encyclopedia. Web. 25 December, 2020.
FLNA Gene
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Filamin A

genes

References

  1. Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL,Cardinale A, Piccolo P, Bacino CA. Terminal osseous dysplasia with pigmentarydefects (TODPD) due to a recurrent filamin A (FLNA) mutation. Mol Genet GenomicMed. 2014 Nov;2(6):467-71. doi: 10.1002/mgg3.90.
  2. Duval D, Lardeux A, Le Tourneau T, Norris RA, Markwald RR, Sauzeau V, ProbstV, Le Marec H, Levine R, Schott JJ, Merot J. Valvular dystrophy associatedfilamin A mutations reveal a new role of its first repeats in small-GTPaseregulation. Biochim Biophys Acta. 2014 Feb;1843(2):234-44. doi:10.1016/j.bbamcr.2013.10.022.
  3. Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, BallabioA, Ciccodicola A, Auricchio A. Filamin A is mutated in X-linked chronicidiopathic intestinal pseudo-obstruction with central nervous system involvement.Am J Hum Genet. 2007 Apr;80(4):751-8.
  4. Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W,Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S,Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP.Differential regulation of two FLNA transcripts explains some of the phenotypicheterogeneity in the loss-of-function filaminopathies. Hum Mutat. 2018Jan;39(1):103-113. doi: 10.1002/humu.23355.
  5. Kapur RP, Robertson SP, Hannibal MC, Finn LS, Morgan T, van Kogelenberg M,Loren DJ. Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction. Am J Surg Pathol. 2010 Oct;34(10):1528-43. doi: 10.1097/PAS.0b013e3181f0ae47.
  6. Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le MarecH, Schott JJ. Mutations in the gene encoding filamin A as a cause for familialcardiac valvular dystrophy. Circulation. 2007 Jan 2;115(1):40-9.
  7. Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S,Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K,Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, UyanikG, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U. 47 patients withFLNA associated periventricular nodular heterotopia. Orphanet J Rare Dis. 2015Oct 15;10:134. doi: 10.1186/s13023-015-0331-9.
  8. Lu J, Tiao G, Folkerth R, Hecht J, Walsh C, Sheen V. Overlapping expression ofARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles:insights into the cause of periventricular heterotopia. J Comp Neurol. 2006 Jan20;494(3):476-84.
  9. Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R. Familial periventricular heterotopia: missense and distal truncating mutationsof the FLN1 gene. Neurology. 2002 Mar 26;58(6):916-21.
  10. Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C,Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P,Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Otopalatodigitalspectrum disorders: refinement of the phenotypic and mutational spectrum. J HumGenet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37.
  11. Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C,Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M,Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, LeonardiG, Wright M, Walsh CA, Guerrini R. Periventricular heterotopia: phenotypicheterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul;129(Pt7):1892-906.
  12. Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V,Wilkie AO, Manouvrier-Hanu S. Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. Eur J Hum Genet. 2006May;14(5):549-54.
  13. Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, SchwartzCE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum DisordersClinical Collaborative Group. Localized mutations in the gene encoding thecytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr;33(4):487-91.
  14. Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigitalsyndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.Eur J Hum Genet. 2007 Jan;15(1):3-9.
  15. Sasaki E, Byrne AT, Phelan E, Cox DW, Reardon W. A review of filamin Amutations and associated interstitial lung disease. Eur J Pediatr. 2019Feb;178(2):121-129. doi: 10.1007/s00431-018-3301-0.
  16. Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F,Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, WalshCA. Mutations in the X-linked filamin 1 gene cause periventricular nodularheterotopia in males as well as in females. Hum Mol Genet. 2001 Aug15;10(17):1775-83.
  17. Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V,Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J,Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, ViriM, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Filamin A mutations causeperiventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan25;64(2):254-62.
  18. Shelmerdine SC, Semple T, Wallis C, Aurora P, Moledina S, Ashworth MT, OwensCM. Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lungdisease (ChILD) classification. Pediatr Pulmonol. 2017 Oct;52(10):1306-1315. doi:10.1002/ppul.23695.
  19. Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, denDunnen JT, Breuning MH. Terminal osseous dysplasia is caused by a singlerecurrent mutation in the FLNA gene. Am J Hum Genet. 2010 Jul 9;87(1):146-53.doi: 10.1016/j.ajhg.2010.06.008.
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Update Date: 25 Dec 2020
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