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Liu, D. LEMD3 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4394 (accessed on 26 September 2026).
Liu D. LEMD3 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4394. Accessed September 26, 2026.
Liu, Dean. "LEMD3 Gene" Encyclopedia, https://encyclopedia.pub/entry/4394 (accessed September 26, 2026).
Liu, D. (2020, December 23). LEMD3 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4394
Liu, Dean. "LEMD3 Gene." Encyclopedia. Web. 23 December, 2020.
LEMD3 Gene
Edit

LEM domain containing 3

genes

References

  1. Burger B, Hershkovitz D, Indelman M, Kovac M, Galambos J, Haeusermann P,Sprecher E, Itin PH. Buschke-Ollendorff syndrome in a three-generation family:influence of a novel LEMD3 mutation to tropoelastin expression. Eur J Dermatol.2010 Nov-Dec;20(6):693-7. doi: 10.1684/ejd.2010.1051.
  2. Couto AR, Bruges-Armas J, Peach CA, Chapman K, Brown MA, Wordsworth BP, Zhang Y. A novel LEMD3 mutation common to patients with osteopoikilosis with andwithout melorheostosis. Calcif Tissue Int. 2007 Aug;81(2):81-4.
  3. Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T,Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W,Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Loss-of-function mutations in LEMD3result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. NatGenet. 2004 Nov;36(11):1213-8.
  4. Lin F, Blake DL, Callebaut I, Skerjanc IS, Holmer L, McBurney MW,Paulin-Levasseur M, Worman HJ. MAN1, an inner nuclear membrane protein thatshares the LEM domain with lamina-associated polypeptide 2 and emerin. J BiolChem. 2000 Feb 18;275(7):4840-7.
  5. Lin F, Morrison JM, Wu W, Worman HJ. MAN1, an integral protein of the innernuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growthfactor-beta signaling. Hum Mol Genet. 2005 Feb 1;14(3):437-45.
  6. Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP. Deactivatinggermline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorffsyndrome, but not sporadic melorheostosis. J Bone Miner Res. 2007Feb;22(2):243-50.
  7. Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP. Novel and recurrentgermline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. Clin Genet. 2009 Jun;75(6):556-61. doi:10.1111/j.1399-0004.2009.01177.x.Apr;79(4):401.
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Update Date: 23 Dec 2020
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