NEMO, NFkappaB signaling and incontinentia pigmenti

Current Opinion in Genetics & Development
David L Nelson

Abstract

The identification of mutations in the NEMO gene in humans with incontinentia pigmenti and several other genetic conditions has led to an appreciation of the multiple roles of signaling through the NFkappaB pathway, and how erroneous signalling contributes to disease. The finding that the disease results from a common, recurrent mutation was surprising given the high variability in patients' phenotypes and illustrates the role of X inactivation and selection in females. Recent advances in mouse models and in understanding the multiple roles of NEMO in the cell provide additional avenues to define the various roles of NEMO in NFkappaB signaling.

References

Feb 11, 1977·Human Genetics·J Kunze Wiedemann H-R
Aug 1, 1990·Clinical Genetics·J García-DoradoM Armijo
Apr 1, 1989·Genomics·A SefianiM C Hors-Cayla
May 1, 1989·Journal of the American Academy of Dermatology·J S PrendivilleN B Esterly
Jul 1, 1987·Journal of Medical Genetics·A D OrmerodA W Johnston
Jun 1, 1994·Ophthalmic Genetics·M F Goldberg
Jan 1, 1994·Annual Review of Immunology·P A Baeuerle, T Henkel
Jan 1, 1993·Journal of Medical Genetics·S J Landy, D Donnai
Oct 4, 1996·Cell·P A Baeuerle, D Baltimore
Feb 5, 1998·American Journal of Medical Genetics·J L RobertsH M Nitowsky
Apr 16, 1998·Proceedings of the National Academy of Sciences of the United States of America·C S SeitzP A Khavari
Apr 9, 1999·Science·K TakedaS Akira
May 27, 1999·Genes & Development·Q LiI M Verma
Sep 17, 1999·The Journal of Biological Chemistry·M Karin
Feb 17, 2000·The Journal of Clinical Investigation·C S SeitzP A Khavari
Mar 31, 2000·Trends in Cell Biology·A Israël
Jun 1, 2000·The Journal of Cell Biology·C K Kaufman, E Fuchs
Jun 3, 2000·Nature Genetics·M J KarkkainenD N Finegold
Jun 3, 2000·Annual Review of Immunology·M Karin, Y Ben-Neriah
Jul 27, 2000·Molecular Cell·M Schmidt-SupprianM Pasparakis
Nov 18, 2000·The Journal of Biological Chemistry·X H LiR B Gaynor
Jan 3, 2001·The Journal of Clinical Investigation·P P Tak, G S Firestein
May 30, 2001·Current Opinion in Genetics & Development·S Aradhya, D L Nelson
Jul 11, 2001·Biochemical and Biophysical Research Communications·L Tarassishin, M S Horwitz
Oct 24, 2001·American Journal of Human Genetics·S KenwrickUNKNOWN International IP Consortium

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Citations

Aug 10, 2006·Clinical Oral Investigations·Snezana MinićMiljana Obradović
Dec 15, 2010·Cell Research·Andy WullaertManolis Pasparakis
Oct 11, 2012·European Journal of Human Genetics : EJHG·Francesca FuscoMatilde Valeria Ursini
Jun 10, 2010·Human Molecular Genetics·Jérémie GautheronGilles Courtois
Feb 4, 2014·PloS One·Maria Rosa PizzamiglioMatilde Valeria Ursini
Jun 26, 2014·Orphanet Journal of Rare Diseases·Francesca FuscoMatilde Valeria Ursini
Jun 27, 2015·Ophthalmic Surgery, Lasers & Imaging Retina·Christian C SwinneyPeter A Karth
May 30, 2008·The Journal of Investigative Dermatology·Bryan K Sun, Hensin Tsao
May 15, 2007·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Giselle DeVetten, Anna Ells
Aug 29, 2018·American Journal of Medical Genetics. Part a·Luiza M MariathLavínia Schuler-Faccini
Mar 30, 2010·Journal of Cellular and Molecular Medicine·Amde Selassie Shifera
Dec 7, 2010·Experimental Dermatology·Raymond J Cho
Sep 27, 2008·Journal of the Chinese Medical Association : JCMA·Jenn-Tzong ChangKai-Sheng Hsieh
Mar 23, 2012·Immunological Reviews·Manolis Pasparakis
Jul 11, 2019·European Journal of Human Genetics : EJHG·Francesca FuscoMatilde Valeria Ursini
Mar 20, 2008·Human Mutation·Francesca FuscoMatilde Valeria Ursini
Apr 29, 2016·Developmental Medicine and Child Neurology·Aneta Soltirovska SalamonLinda S de Vries
Sep 22, 2020·Rheumatology·Letizia BaldiniFrancesco Licciardi
Apr 29, 2021·American Journal of Orthodontics and Dentofacial Orthopedics : Official Publication of the American Association of Orthodontists, Its Constituent Societies, and the American Board of Orthodontics·Fernanda Diffini Santa MariaAna Elisa Kiszewski
Aug 11, 2017·Pediatrics·Francesca FuscoMatilde Valeria Ursini
Oct 30, 2012·Actas dermo-sifiliográficas·P García-MartínA Torrelo

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