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Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn’s disease
X-linked inhibitor of apoptosis (XIAP) is the most potent human inhibitor of apoptosis, and is also involved in NOD2-dependent NFκB and MAPK signalling cascade activation. The absence or defective function of XIAP leads to the development of a rare and severe primary immunodeficiency known as X-link...
Autores principales: | Parackova, Zuzana, Milota, Tomas, Vrabcova, Petra, Smetanova, Jitka, Svaton, Michael, Freiberger, Tomas, Kanderova, Veronika, Sediva, Anna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280281/ https://www.ncbi.nlm.nih.gov/pubmed/32514016 http://dx.doi.org/10.1038/s41419-020-2652-4 |
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