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Details on Person X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
| Class:Id | LiteratureReference:5262960 |
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| _displayName | X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling |
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| _timestamp | 2014-04-19 20:33:16 |
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| author | [Person:5262989] Döffinger, R
[Person:5262979] Smahi, A
[Person:3788080] Bessia, C
[Person:5262926] Geissmann, F
[Person:5262929] Feinberg, J
[Person:5262908] Durandy, A
[Person:5262903] Bodemer, C
[Person:5262856] Kenwrick, S
[Person:5262849] Dupuis-Girod, S
[Person:5263013] Blanche, S
[Person:5262956] Wood, P
[Person:5262897] Rabia, S H
[Person:5263009] Headon, D J
[Person:5262998] Overbeek, Paul A
[Person:5262917] Le Deist, F
[Person:5263002] Holland, S M
[Person:5262957] Belani, K
[Person:5262982] Kumararatne, D S
[Person:3318330] Fischer, A
[Person:5262994] Shapiro, R
[Person:5263012] Conley, M E
[Person:5262878] Reimund, E
[Person:5262888] Kalhoff, H
[Person:2731012] Abinun, Mario
[Person:198400] Munnich, A
[Person:5262991] Israël, A
[Person:5262946] Courtois, G
[Person:5262919] Casanova, J L |
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| created | [InstanceEdit:5262932] Shamovsky, V, 2014-02-09 |
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| journal | Nat. Genet. |
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| modified | [InstanceEdit:5364054] D'Eustachio, Peter, 2014-04-19 |
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| pages | 277-85 |
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| pubMedIdentifier | 11242109 |
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| title | X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling |
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| volume | 27 |
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| year | 2001 |
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| (literatureReference) | [FailedReaction:5262921] Defective IKBKG (NEMO) destabilizes the association of IKBKA:IKBKB:IKBKG (via TLR) [Homo sapiens]
[Pathway:5603027] IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) [Homo sapiens]
[Summation:5262969] A group of hypomorphic IKBKG (NEMO) mutations has been assoc...
[Summation:5607899] Many signaling pathways rely on the activation of nuclear fa...
[DefinedSet:5262931] TLR associated IKBKG variants [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5262978] IKBKG *420Wext*447 [cytosol] [Homo sapiens] |
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