Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

By Asmae Smahl, G. Courtols, Pierre Vabres, S. Yamaoka, S. Heuertz, A. Munnich, A. Israël, Nina S. Helss, S. Klauck, P. Kloschls and 17 more. Nature, 2000

647 citations recorded by the source corpus.

Subfields: Dermatology, Genetics

View Paper: https://www.semanticscholar.org/paper/29b1b03e41fe154b5f90a9ee9d8991f52cc29f59

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In Genetics

1. V. Dixit

Citations in the corpus

• 30 years of NF-κB: a blossoming of relevance to human pathobiology (2017, positive): “In 2000, only two years after it was cloned and mapped to the same region, NEMO was identified as the causal gene of IP (Smahi et al., 2000).”
• Bcl10 activates the NF-κB pathway through ubiquitination of NEMO (2004, background): “This region of NEMO contains a putative zinc finger motif which is required for full IKK activatio”