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231224s2015 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2015.06.007
|2 doi
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|a pubmed24n0834.xml
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|a (DE-627)NLM250371235
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|a (NLM)26117626
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|a (PII)S1521-6616(15)00211-9
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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| 100 |
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|a Ramírez-Alejo, Noé
|e verfasserin
|4 aut
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| 245 |
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|a Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura
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|c 2015
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 15.12.2015
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|a Date Revised 24.09.2015
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2015 Elsevier Inc. All rights reserved.
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|a NF-κB essential modulator (NEMO) is a component of the IKK complex, which participates in the activation of the NF-κB pathway. Hypomorphic mutations in the IKBKG gene result in different forms of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males without affecting carrier females. Here, we describe a hypomorphic and missense mutation, designated c.916G>A (p.D306N), which affects our patient, his mother, and his sister. This mutation did not affect NEMO expression; however, an immunoprecipitation assay revealed reduced ubiquitylation upon CD40-stimulation in the patient's cells. Functional studies have demonstrated reduced phosphorylation and degradation of IκBα, affecting NF-κB recruitment into the nucleus. The patient presented with clinical features of ectodermal dysplasia, immunodeficiency, and immune thrombocytopenic purpura, the latter of which has not been previously reported in a patient with NEMO deficiency. His mother and sister displayed incontinentia pigmenti indicating that, in addition to amorphic mutations, hypomorphic mutations in NEMO can affect females
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|a Journal Article
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| 650 |
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4 |
|a Research Support, Non-U.S. Gov't
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| 650 |
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4 |
|a Ectodermal dysplasia
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| 650 |
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4 |
|a Immune thrombocytopenic purpura
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| 650 |
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4 |
|a Immunodeficiency
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| 650 |
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4 |
|a NEMO
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| 650 |
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|a IKBKG protein, human
|2 NLM
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| 650 |
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|a I-kappa B Kinase
|2 NLM
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| 650 |
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7 |
|a EC 2.7.11.10
|2 NLM
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| 700 |
1 |
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|a Alcántara-Montiel, Julio C
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Yamazaki-Nakashimada, Marco
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Duran-McKinster, Carola
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Valenzuela-León, Paola
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Rivas-Larrauri, Francisco
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Cedillo-Barrón, Leticia
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Hernández-Rivas, Rosaura
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Santos-Argumedo, Leopoldo
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 160(2015), 2 vom: 01. Okt., Seite 163-71
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
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|g volume:160
|g year:2015
|g number:2
|g day:01
|g month:10
|g pages:163-71
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2015.06.007
|3 Volltext
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|d 160
|j 2015
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|h 163-71
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