-
1
-
-
71449109112
-
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination
-
Vandewalle J., Van Esch H., Govaerts K., Verbeeck J., Zweier C., Madrigal I., Mila M., Pijkels E., Fernandez I., Kohlhase J., et al. Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am. J. Hum. Genet. 85 (2009) 809-822
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 809-822
-
-
Vandewalle, J.1
Van Esch, H.2
Govaerts, K.3
Verbeeck, J.4
Zweier, C.5
Madrigal, I.6
Mila, M.7
Pijkels, E.8
Fernandez, I.9
Kohlhase, J.10
-
2
-
-
33750312876
-
Posttranslational modifications of NEMO and its partners in NF-kappaB signaling
-
Sebban H., Yamaoka S., and Courtois G. Posttranslational modifications of NEMO and its partners in NF-kappaB signaling. Trends Cell Biol. 16 (2006) 569-577
-
(2006)
Trends Cell Biol.
, vol.16
, pp. 569-577
-
-
Sebban, H.1
Yamaoka, S.2
Courtois, G.3
-
3
-
-
33750072932
-
Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene
-
Fusco F., Mercadante V., Miano M.G., and Ursini M.V. Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene. Gene 383 (2006) 99-107
-
(2006)
Gene
, vol.383
, pp. 99-107
-
-
Fusco, F.1
Mercadante, V.2
Miano, M.G.3
Ursini, M.V.4
-
4
-
-
0035854035
-
Human-mouse comparative sequence analysis of the NEMO gene reveals an alternative promoter within the neighboring G6PD gene
-
Galgóczy P., Rosenthal A., and Platzer M. Human-mouse comparative sequence analysis of the NEMO gene reveals an alternative promoter within the neighboring G6PD gene. Gene 271 (2001) 93-98
-
(2001)
Gene
, vol.271
, pp. 93-98
-
-
Galgóczy, P.1
Rosenthal, A.2
Platzer, M.3
-
5
-
-
33747609345
-
Inhibition of transcription factor NF-kappaB in the central nervous system ameliorates autoimmune encephalomyelitis in mice
-
van Loo G., De Lorenzi R., Schmidt H., Huth M., Mildner A., Schmidt-Supprian M., Lassmann H., Prinz M.R., and Pasparakis M. Inhibition of transcription factor NF-kappaB in the central nervous system ameliorates autoimmune encephalomyelitis in mice. Nat. Immunol. 7 (2006) 954-961
-
(2006)
Nat. Immunol.
, vol.7
, pp. 954-961
-
-
van Loo, G.1
De Lorenzi, R.2
Schmidt, H.3
Huth, M.4
Mildner, A.5
Schmidt-Supprian, M.6
Lassmann, H.7
Prinz, M.R.8
Pasparakis, M.9
-
6
-
-
51149093503
-
Nuclear factor kappa B signaling either stimulates or inhibits neurite growth depending on the phosphorylation status of p65/RelA
-
Gutierrez H., O'Keeffe G.W., Gavaldà N., Gallagher D., and Davies A.M. Nuclear factor kappa B signaling either stimulates or inhibits neurite growth depending on the phosphorylation status of p65/RelA. J. Neurosci. 28 (2008) 8246-8256
-
(2008)
J. Neurosci.
, vol.28
, pp. 8246-8256
-
-
Gutierrez, H.1
O'Keeffe, G.W.2
Gavaldà, N.3
Gallagher, D.4
Davies, A.M.5
-
7
-
-
71449106786
-
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation
-
Philippe O., Rio M., Carioux A., Plaza J.M., Guigue P., Molinari F., Boddaert N., Bole-Feysot C., Nitschke P., Smahi A., et al. Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am. J. Hum. Genet. 85 (2009) 903-908
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 903-908
-
-
Philippe, O.1
Rio, M.2
Carioux, A.3
Plaza, J.M.4
Guigue, P.5
Molinari, F.6
Boddaert, N.7
Bole-Feysot, C.8
Nitschke, P.9
Smahi, A.10
-
8
-
-
71149100261
-
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly
-
Mochida G.H., Mahajnah M., Hill A.D., Basel-Vanagaite L., Gleason D., Hill R.S., Bodell A., Crosier M., Straussberg R., and Walsh C.A. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am. J. Hum. Genet. 85 (2009) 897-902
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 897-902
-
-
Mochida, G.H.1
Mahajnah, M.2
Hill, A.D.3
Basel-Vanagaite, L.4
Gleason, D.5
Hill, R.S.6
Bodell, A.7
Crosier, M.8
Straussberg, R.9
Walsh, C.A.10
-
9
-
-
71149100260
-
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation
-
Mir A., Kaufman L., Noor A., Motazacker M.M., Jamil T., Azam M., Kahrizi K., Rafiq M.A., Weksberg R., Nasr T., et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am. J. Hum. Genet. 85 (2009) 909-915
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 909-915
-
-
Mir, A.1
Kaufman, L.2
Noor, A.3
Motazacker, M.M.4
Jamil, T.5
Azam, M.6
Kahrizi, K.7
Rafiq, M.A.8
Weksberg, R.9
Nasr, T.10
-
10
-
-
4444311888
-
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation
-
Fusco F., Bardaro T., Fimiani G., Mercadante V., Miano M.G., Falco G., Israël A., Courtois G., D'Urso M., and Ursini M.V. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. Hum. Mol. Genet. 13 (2004) 1763-1773
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1763-1773
-
-
Fusco, F.1
Bardaro, T.2
Fimiani, G.3
Mercadante, V.4
Miano, M.G.5
Falco, G.6
Israël, A.7
Courtois, G.8
D'Urso, M.9
Ursini, M.V.10
-
11
-
-
0141708025
-
Clinical study of 40 cases of incontinentia pigmenti
-
Hadj-Rabia S., Froidevaux D., Bodak N., Hamel-Teillac D., Smahi A., Touil Y., Fraitag S., de Prost Y., and Bodemer C. Clinical study of 40 cases of incontinentia pigmenti. Arch. Dermatol. 139 (2003) 1163-1170
-
(2003)
Arch. Dermatol.
, vol.139
, pp. 1163-1170
-
-
Hadj-Rabia, S.1
Froidevaux, D.2
Bodak, N.3
Hamel-Teillac, D.4
Smahi, A.5
Touil, Y.6
Fraitag, S.7
de Prost, Y.8
Bodemer, C.9
-
12
-
-
0034713270
-
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti
-
The International Incontinentia Pigmenti (IP) Consortium
-
Smahi A., Courtois G., Vabres P., Yamaoka S., Heuertz S., Munnich A., Israël A., Heiss N.S., Klauck S.M., Kioschis P., et al., The International Incontinentia Pigmenti (IP) Consortium. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. Nature 405 (2000) 466-472
-
(2000)
Nature
, vol.405
, pp. 466-472
-
-
Smahi, A.1
Courtois, G.2
Vabres, P.3
Yamaoka, S.4
Heuertz, S.5
Munnich, A.6
Israël, A.7
Heiss, N.S.8
Klauck, S.M.9
Kioschis, P.10
-
13
-
-
35748929941
-
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti
-
Sebban-Benin H., Pescatore A., Fusco F., Pascuale V., Gautheron J., Yamaoka S., Moncla A., Ursini M.V., and Courtois G. Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. Hum. Mol. Genet. 16 (2007) 2805-2815
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 2805-2815
-
-
Sebban-Benin, H.1
Pescatore, A.2
Fusco, F.3
Pascuale, V.4
Gautheron, J.5
Yamaoka, S.6
Moncla, A.7
Ursini, M.V.8
Courtois, G.9
-
15
-
-
0035888596
-
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
-
Aradhya S., Bardaro T., Galgóczy P., Yamagata T., Esposito T., Patlan H., Ciccodicola A., Munnich A., Kenwrick S., Platzer M., et al. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum. Mol. Genet. 10 (2001) 2557-2567
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2557-2567
-
-
Aradhya, S.1
Bardaro, T.2
Galgóczy, P.3
Yamagata, T.4
Esposito, T.5
Patlan, H.6
Ciccodicola, A.7
Munnich, A.8
Kenwrick, S.9
Platzer, M.10
-
16
-
-
69549116228
-
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti
-
Fusco F., Paciolla M., Pescatore A., Lioi M.B., Ayuso C., Faravelli F., Gentile M., Zollino M., D'Urso M., Miano M.G., and Ursini M.V. Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti. Hum. Mutat. 30 (2009) 1284-1291
-
(2009)
Hum. Mutat.
, vol.30
, pp. 1284-1291
-
-
Fusco, F.1
Paciolla, M.2
Pescatore, A.3
Lioi, M.B.4
Ayuso, C.5
Faravelli, F.6
Gentile, M.7
Zollino, M.8
D'Urso, M.9
Miano, M.G.10
Ursini, M.V.11
-
17
-
-
33646528676
-
NEMO, NFkappaB signaling and incontinentia pigmenti
-
Nelson D.L. NEMO, NFkappaB signaling and incontinentia pigmenti. Curr. Opin. Genet. Dev. 16 (2006) 282-288
-
(2006)
Curr. Opin. Genet. Dev.
, vol.16
, pp. 282-288
-
-
Nelson, D.L.1
-
18
-
-
65549164068
-
Roles of NF-kappaB in health and disease: Mechanisms and therapeutic potential
-
Wong E.T., and Tergaonkar V. Roles of NF-kappaB in health and disease: Mechanisms and therapeutic potential. Clin. Sci. (Lond.) 116 (2009) 451-465
-
(2009)
Clin. Sci. (Lond.)
, vol.116
, pp. 451-465
-
-
Wong, E.T.1
Tergaonkar, V.2
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