| 1 | EDAID, IKBKG
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| Two-sided ubiquitin binding of NF-κB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome.
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| Ngadjeua F, Chiaravalli J, Traincard F, Raynal B, Fontan E, Agou F.
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| J Biol Chem 288(47):33722-37. doi: 10.1074/jbc.M113.483305. Epub 2013 Oct 7.
2013
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| 2 | EDAID, IKBKG, OLEDAID
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| New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
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| Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, Belani K, Bodemer C, Fabre I, Plebani A, Boisson-Dupuis S, Picard C, Fischer A, Israel A, Abel L, Veron M, Casanova JL, Agou F, Bustamante J.
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| Blood 118(4):926-35. Epub 2011 May 26. 2011
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| 3 | IKBKG, IP2, OLEDAID, EDAID
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| Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
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| Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV.
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| Hum Mutat 29(5):595-604. 2008
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| 4 | EDAID, IKBKG
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| X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis.
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| Mancini AJ, Lawley LP, Uzel G.
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| Arch Dermatol 144(3):342-6.PMID: 18347290 2008
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| 5 | EDAID, IKBKG
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| Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.
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| Orstavik KH, Kristiansen M, Knudsen GP, Storhaug K, Vege A, Eiklid K, Abrahamsen TG, Smahi A, Steen-Johnsen J.
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| Am J Med Genet A 140(1):31-9. 2006
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| 6 | IKBKG, EDAID
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| NEMO mutations in 2 unrelated boys with severe infections and conical teeth.
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| Ku CL, Dupuis-Girod S, Dittrich AM, Bustamante J, Santos OF, Schulze I, Bertrand Y, Couly G, Bodemer C, Bossuyt X, Picard C, Casanova JL.
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| Pediatrics 115(5):e615-9. Epub 2005 Apr 15. 2005
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| 7 | IKBKG, EDAID
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| Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation.
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| Jain A, Ma CA, Lopez-Granados E, Means G, Brady W, Orange JS, Liu S, Holland S, Derry JM.
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| J Clin Invest 114(11):1593-602. 2004
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| 8 | EDAID, IKBKG
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| Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.
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| Orange JS, Brodeur SR, Jain A, Bonilla FA, Schneider LC, Kretschmer R, Nurko S, Rasmussen WL, Kohler JR, Gellis SE, Ferguson BM, Strominger JL, Zonana J, Ramesh N, Ballas ZK, Geha RS.
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| J Clin Invest 109(11):1501-9. 2002
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| 9 | EDAID, IKBKG, OLEDAID
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| X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
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| Doffinger 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, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israel A, Courtois G, Casanova JL.
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| Nat Genet 27(3):277-85. 2001
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| 10 | EDAID, IKBKG
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| Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).
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| Aradhya S, Courtois G, Rajkovic A, Lewis R, Levy M, Israel A, Nelson D.
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| Am J Hum Genet 68(3):765-71. 2001
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| 11 | EDAID, IKBKG
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| Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.
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| Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W.
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| Nat Immunol 2(3):223-8. 2001
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| 12 | EDAID, IKBKG
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| A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
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| Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM.
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| Am J Hum Genet 67(6):1555-62. 2000
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