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Zhou, V. ASXL1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4777 (accessed on 29 September 2026).
Zhou V. ASXL1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4777. Accessed September 29, 2026.
Zhou, Vicky. "ASXL1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4777 (accessed September 29, 2026).
Zhou, V. (2020, December 24). ASXL1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4777
Zhou, Vicky. "ASXL1 Gene." Encyclopedia. Web. 24 December, 2020.
ASXL1 Gene
Edit

ASXL transcriptional regulator 1

genes

References

  1. Aravind L, Iyer LM. The HARE-HTH and associated domains: novel modules in the coordination of epigenetic DNA and protein modifications. Cell Cycle. 2012 Jan1;11(1):119-31. doi: 10.4161/cc.11.1.18475.
  2. Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P. New cases ofBohring-Opitz syndrome, update, and critical review of the literature. Am J MedGenet A. 2006 Jun 15;140(12):1257-63. Review.
  3. Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de VriesP, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D,Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. De novo nonsensemutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011 Jun26;43(8):729-31. doi: 10.1038/ng.868.
  4. Inoue D, Matsumoto M, Nagase R, Saika M, Fujino T, Nakayama KI, Kitamura T.Truncation mutants of ASXL1 observed in myeloid malignancies are expressed atdetectable protein levels. Exp Hematol. 2016 Mar;44(3):172-6.e1. doi:10.1016/j.exphem.2015.11.011.
  5. Magini P, Della Monica M, Uzielli ML, Mongelli P, Scarselli G, Gambineri E,Scarano G, Seri M. Two novel patients with Bohring-Opitz syndrome caused by denovo ASXL1 mutations. Am J Med Genet A. 2012 Apr;158A(4):917-21. doi:10.1002/ajmg.a.35265.
  6. Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan WH,Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Vergano SA, Helm BM,Harrison RE, Graham JM Jr. Clinical management of patients with ASXL1 mutationsand Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. AmJ Med Genet A. 2015 Sep;167A(9):2122-31. doi: 10.1002/ajmg.a.37131.
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Update Date: 24 Dec 2020
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