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Items: 1 to 20 of 28

1.
Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation
Ashish Jain, Chi A. Ma, Eduardo Lopez-Granados, Gary Means, William Brady, Jordan S. Orange, Shuying Liu, Steven Holland, Jonathan M.J. Derry
J Clin Invest. 2004 Dec 1; 114(11): 1593–1602. doi: 10.1172/JCI21345
PMCID:
PMC529497
AbstractArticlePDF–868K
2.
The zinc finger domain of IKKγ (NEMO) protein in health and disease
Amde Selassie Shifera
J Cell Mol Med. 2010 Oct; 14(10): 2404–2414. Published online 2010 Mar 15. doi: 10.1111/j.1582-4934.2010.01054.x
PMCID:
PMC3823158
AbstractArticlePDF–615K
3.
TRAF6-deficient mice display hypohidrotic ectodermal dysplasia
Asuka Naito, Hisahiro Yoshida, Eri Nishioka, Mizuho Satoh, Sakura Azuma, Tadashi Yamamoto, Shin-ichi Nishikawa, Jun-ichiro Inoue
Proc Natl Acad Sci U S A. 2002 Jun 25; 99(13): 8766–8771. Published online 2002 Jun 11. doi: 10.1073/pnas.132636999
PMCID:
PMC124373
AbstractArticlePDF–834K
4.
The NF-κB signaling pathway in human genetic diseases
G. Courtois
Cell Mol Life Sci. 2005 Aug; 62(15): 1682–1691. Published online 2005 May 28. doi: 10.1007/s00018-005-5031-5
PMCID:
PMC11139074
AbstractArticlePDF–1.0M
5.
Essential role of nuclear factor-κB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes
Marcos Luengo-Blanco, Carolina Prando, Jacinta Bustamante, Walmir Cutrim Aragão-Filho, Paulo Vitor Soeiro Pereira, Jussara Rehder, Carolyn Padden, Jean-Laurent Casanova, Peter E. Newburger, Antonio Condino-Neto
Blood. 2008 Aug 15; 112(4): 1453–1460. Prepublished online 2008 Jun 3. doi: 10.1182/blood-2007-07-099267
PMCID:
PMC2515116
AbstractArticle
6.
Hypomorphic NEMO mutation database and reconstitution system identifies phenotypic and immunologic diversity
Eric P. Hanson, Linda Monaco-Shawver, Laura A. Solt, Lisa A. Madge, Pinaki P. Banerjee, Michael J. May, Jordan S. Orange
J Allergy Clin Immunol. Author manuscript; available in PMC 2009 Dec 1.
Published in final edited form as: J Allergy Clin Immunol. 2008 Dec; 122(6): 1169–1177.e16. Published online 2008 Oct 11. doi: 10.1016/j.jaci.2008.08.018
PMCID:
PMC2710968
AbstractArticlePDF–4.5M
7.
Mutation analysis in primary immunodeficiency diseases: case studies
Amy P. Hsu, Thomas A. Fleisher, Julie E. Niemela
Curr Opin Allergy Clin Immunol. Author manuscript; available in PMC 2010 Jan 1.
Published in final edited form as: Curr Opin Allergy Clin Immunol. 2009 Dec; 9(6): 517–524. doi: 10.1097/ACI.0b013e3283328f59
PMCID:
PMC2774237
AbstractArticlePDF–950K
8.
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy and ectodermal dysplasia
Christie-Ann McCarl, Capucine Picard, Sara Khalil, Takumi Kawasaki, Jens Röther, Alexander Papolos, Jeffery Kutok, Claire Hivroz, Francoise LeDeist, Katrin Plogmann, Stephan Ehl, Gundula Notheis, Michael H. Albert, Bernd H. Belohradsky, Janbernd Kirschner, Anjana Rao, Alain Fischer, Stefan Feske
J Allergy Clin Immunol. Author manuscript; available in PMC 2010 Dec 1.
Published in final edited form as: J Allergy Clin Immunol. 2009 Dec; 124(6): 1311–1318.e7. doi: 10.1016/j.jaci.2009.10.007
PMCID:
PMC2829767
AbstractArticlePDF–2.2M
9.
Immunodeficiency due to mutations in ORAI1 and STIM1
Stefan Feske, Capucine Picard, Alain Fischer
Clin Immunol. Author manuscript; available in PMC 2011 May 1.
Published in final edited form as: Clin Immunol. 2010 May; 135(2): 169–182. Published online 2010 Mar 1. doi: 10.1016/j.clim.2010.01.011
PMCID:
PMC2856745
AbstractArticlePDF–1.2M
10.
Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of the NEMO gene
Jana L. Mooster, Caterina Cancrini, Alessandra Simonetti, Paolo Rossi, Gigliola Di Matteo, Maria Luisa Romiti, Silvia Di Cesare, Luigi Notarangelo, Raif S. Geha, Douglas R. McDonald
J Allergy Clin Immunol. Author manuscript; available in PMC 2011 Jul 1.
Published in final edited form as: J Allergy Clin Immunol. 2010 Jul; 126(1): 127–32.e7. Published online 2010 Jun 12. doi: 10.1016/j.jaci.2010.04.026
PMCID:
PMC3124805
AbstractArticlePDF–1.2M
11.
Dendritic cells from humans with hypomorphic mutations in NEMO have impaired mitogen-activated protein kinase activity
Chi A. Ma, Hong-Ying Wang, Stephane Temmerman, Yongge Zhao, Liming Wu, Ronald L. Hornung, Diane Wara, Ashish Jain
Hum Mutat. Author manuscript; available in PMC 2012 Mar 1.
Published in final edited form as: Hum Mutat. 2011 Mar; 32(3): 318–324. doi: 10.1002/humu.21439
PMCID:
PMC3134100
AbstractArticlePDF–802K
12.
Congenital alterations of glutamic acid 223 in the second NEMO alpha-helix result in Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Normal Serum IgG Levels
Gital Karamchandani-Patel, Eric P. Hanson, Rushani Saltzman, C. Eve Kimball, Ricardo U. Sorensen, Jordan S. Orange
Ann Allergy Asthma Immunol. Author manuscript; available in PMC 2012 Jul 1.
Published in final edited form as: Ann Allergy Asthma Immunol. 2011 Jul; 107(1): 50–56. Published online 2011 May 4. doi: 10.1016/j.anai.2011.03.009
PMCID:
PMC3177139
AbstractArticlePDF–559K
13.
A Novel Mutation in NFKBIA/IKBA Results in a Degradation-Resistant N-Truncated Protein and Is Associated With Ectodermal Dysplasia With Immunodeficiency
Eduardo Lopez-Granados, Jeffrey E. Keenan, Matthew C. Kinney, Harvey Leo, Neal Jain, Chi A. Ma, Ralph Quinones, Erwin W. Gelfand, Ashish Jain
Hum Mutat. Author manuscript; available in PMC 2011 Sep 25.
Published in final edited form as: Hum Mutat. 2008 Jun; 29(6): 861–868. doi: 10.1002/humu.20740
PMCID:
PMC3179847
AbstractArticlePDF–902K
14.
Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency
Stephane T. Temmerman, Chi A. Ma, Yongge Zhao, Jeffrey Keenan, Ivona Aksentijevich, Margaret Fessler, Margaret R. Brown, Alan Knutsen, Ralph Shapiro, Ashish Jain
J Clin Invest. 2012 Jan 3; 122(1): 315–326. Published online 2011 Dec 12. doi: 10.1172/JCI42534
PMCID:
PMC3248277
AbstractArticlePDF–1.3M
15.
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein
Marjorie Hubeau, Flora Ngadjeua, Anne Puel, Laura Israel, Jacqueline Feinberg, Maya Chrabieh, Kiran Belani, Christine Bodemer, Isabelle Fabre, Alessandro Plebani, Stéphanie Boisson-Dupuis, Capucine Picard, Alain Fischer, Alain Israel, Laurent Abel, Michel Veron, Jean-Laurent Casanova, Fabrice Agou, Jacinta Bustamante
Blood. 2011 Jul 28; 118(4): 926–935. Prepublished online 2011 May 26. doi: 10.1182/blood-2010-10-315234
PMCID:
PMC3251327
AbstractArticle
16.
Two-sided Ubiquitin Binding of NF-κB Essential Modulator (NEMO) Zinc Finger Unveiled by a Mutation Associated with Anhidrotic Ectodermal Dysplasia with Immunodeficiency Syndrome
Flora Ngadjeua, Jeanne Chiaravalli, François Traincard, Bertrand Raynal, Elisabeth Fontan, Fabrice Agou
J Biol Chem. 2013 Nov 22; 288(47): 33722–33737. Published online 2013 Oct 7. doi: 10.1074/jbc.M113.483305
PMCID:
PMC3837117
AbstractArticlePDF–2.1M
17.
Rare Mendelian Primary Immunodeficiency diseases associated to impaired NF-?B signaling
Mariateresa Paciolla, Alessandra Pescatore, Matilde Immacolata Conte, Elio Esposito, Mariarosaria Incoronato, Maria Brigida Lioi, Francesca Fusco, Matilde Valeria Ursini
Genes Immun. Author manuscript; available in PMC 2015 Dec 1.
Published in final edited form as: Genes Immun. 2015 Jun; 16(4): 239–246. Published online 2015 Mar 12. doi: 10.1038/gene.2015.3
PMCID:
PMC4457537
AbstractArticlePDF–560K
18.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, Katarzyna Szymanska, Thanh-Minh T. Nguyen, Hilary Racher, Ian G. Phelps, Grischa Toedt, Julie Kennedy, Kirsten A. Wunderlich, Nasrin Sorusch, Zakia A. Abdelhamed, Subaashini Natarajan, Warren Herridge, Jeroen van Reeuwijk, Nicola Horn, Karsten Boldt, David A. Parry, Stef J.F. Letteboer, Susanne Roosing, Matthew Adams, Sandra M. Bell, Jacquelyn Bond, Julie Higgins, Ewan E. Morrison, Darren C. Tomlinson, Gisela G. Slaats, Teunis J. P. van Dam, Lijia Huang, Kristin Kessler, Andreas Giessl, Clare V. Logan, Evan A. Boyle, Jay Shendure, Shamsa Anazi, Mohammed Aldahmesh, Selwa Al Hazzaa, Robert A. Hegele, Carole Ober, Patrick Frosk, Aizeddin A. Mhanni, Bernard N. Chodirker, Albert E. Chudley, Ryan Lamont, Francois P. Bernier, Chandree L. Beaulieu, Paul Gordon, Richard T. Pon, Clem Donahue, A. James Barkovich, Louis Wolf, Carmel Toomes, Christian T. Thiel, Kym M. Boycott, Martin McKibbin, Chris F. Inglehearn, UK10K Consortium, University of Washington Center for Mendelian Genomics, Fiona Stewart, Heymut Omran, Martijn A. Huynen, Panagiotis I. Sergouniotis, Fowzan S. Alkuraya, Jillian S. Parboosingh, A Micheil Innes, Colin E. Willoughby, Rachel H. Giles, Andrew R. Webster, Marius Ueffing, Oliver Blacque, Joseph G. Gleeson, Uwe Wolfrum, Philip L. Beales, Toby Gibson, Dan Doherty, Hannah M. Mitchison, Ronald Roepman, Colin A. Johnson
Nat Cell Biol. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Nat Cell Biol. 2015 Aug; 17(8): 1074–1087. Published online 2015 Jul 13. doi: 10.1038/ncb3201
PMCID:
PMC4536769
AbstractArticlePDF–3.6M
19.
Diseases caused by mutations in ORAI1 and STIM1
Rodrigo S. Lacruz, Stefan Feske
Ann N Y Acad Sci. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: Ann N Y Acad Sci. 2015 Nov; 1356(1): 45–79. Published online 2015 Oct 15. doi: 10.1111/nyas.12938
PMCID:
PMC4692058
AbstractArticlePDF–698K
20.
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency
Armine Darbinyan, Eugene O. Major, Susan Morgello, Steven Holland, Caroline Ryschkewitsch, Maria Chiara Monaco, Thomas P. Naidich, Joshua Bederson, Joanna Malaczynska, Fei Ye, Ronald Gordon, Charlotte Cunningham-Rundles, Mary Fowkes, Nadejda M. Tsankova
Acta Neuropathol Commun. 2016; 4: 73. Published online 2016 Jul 13. doi: 10.1186/s40478-016-0342-3
PMCID:
PMC4944483
AbstractArticlePDF–3.4M

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