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Liu, D. IKBKG Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4164 (accessed on 26 September 2026).
Liu D. IKBKG Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4164. Accessed September 26, 2026.
Liu, Dean. "IKBKG Gene" Encyclopedia, https://encyclopedia.pub/entry/4164 (accessed September 26, 2026).
Liu, D. (2020, December 23). IKBKG Gene. In Encyclopedia. https://encyclopedia.pub/entry/4164
Liu, Dean. "IKBKG Gene." Encyclopedia. Web. 23 December, 2020.
IKBKG Gene
Edit

Inhibitor of nuclear factor kappa B kinase subunit gamma

genes

References

  1. Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, LevyM, Munnich A, D'Urso M, Lewis RA, Kenwrick S, Nelson DL. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majorityof incontinentia pigmenti mutations. Hum Mol Genet. 2001 Sep 15;10(19):2171-9.
  2. Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002Aug;47(2):169-87; quiz 188-90. Review.
  3. Bruckner AL. Incontinentia pigmenti: a window to the role of NF-kappaBfunction. Semin Cutan Med Surg. 2004 Jun;23(2):116-24. Review.
  4. Bustamante J, Picard C, Boisson-Dupuis S, Abel L, Casanova JL. Genetic lessonslearned from X-linked Mendelian susceptibility to mycobacterial diseases. Ann N YAcad Sci. 2011 Dec;1246:92-101. doi: 10.1111/j.1749-6632.2011.06273.x. Review.
  5. Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C,Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, ConleyME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL.X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused byimpaired NF-kappaB signaling. Nat Genet. 2001 Mar;27(3):277-85.
  6. Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, FruchtDM, Christel K, von Bernuth H, Jouanguy E, Feinberg J, Durandy A, Senechal B,Chapgier A, Vogt G, de Beaucoudrey L, Fieschi C, Picard C, Garfa M, Chemli J,Bejaoui M, Tsolia MN, Kutukculer N, Plebani A, Notarangelo L, Bodemer C,Geissmann F, Israël A, Véron M, Knackstedt M, Barbouche R, Abel L, Magdorf K,Gendrel D, Agou F, Holland SM, Casanova JL. X-linked susceptibility tomycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12production. J Exp Med. 2006 Jul 10;203(7):1745-59.
  7. Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A,Courtois G, D'Urso M, Ursini MV. Molecular analysis of the genetic defect in alarge cohort of IP patients and identification of novel NEMO mutationsinterfering with NF-kappaB activation. Hum Mol Genet. 2004 Aug 15;13(16):1763-73.
  8. Scheuerle AE, Ursini MV. Incontinentia Pigmenti. 1999 Jun 8 [updated 2017 Dec 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1472/
  9. Shifera AS. The zinc finger domain of IKKγ (NEMO) protein in health anddisease. J Cell Mol Med. 2010 Oct;14(10):2404-14. doi:10.1111/j.1582-4934.2010.01054.x. Review.
  10. Smahi A, Courtois G, Rabia SH, Döffinger R, Bodemer C, Munnich A, Casanova JL,Israël A. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet.2002 Oct 1;11(20):2371-5. Review.
  11. Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A,Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T,Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D,Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL.Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause ofincontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.Nature. 2000 May 25;405(6785):466-72.
  12. Temmerman ST, Ma CA, Zhao Y, Keenan J, Aksentijevich I, Fessler M, Brown MR,Knutsen A, Shapiro R, Jain A. Defective nuclear IKKα function in patients withectodermal dysplasia with immune deficiency. J Clin Invest. 2012Jan;122(1):315-26. doi: 10.1172/JCI42534.
  13. Uzel G. The range of defects associated with nuclear factor kappaB essentialmodulator. Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):513-8. Review.
  14. Verma UN, Yamamoto Y, Prajapati S, Gaynor RB. Nuclear role of I kappa BKinase-gamma/NF-kappa B essential modulator (IKK gamma/NEMO) in NF-kappaB-dependent gene expression. J Biol Chem. 2004 Jan 30;279(5):3509-15.
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