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Publication : NF-kappaB-related genetic diseases.

First Author  Courtois G Year  2006
Journal  Cell Death Differ Volume  13
Issue  5 Pages  843-51
PubMed ID  16397577 Mgi Jnum  J:126297
Mgi Id  MGI:3760960 Doi  10.1038/sj.cdd.4401841
Citation  Courtois G, et al. (2006) NF-kappaB-related genetic diseases. Cell Death Differ 13(5):843-51
abstractText  The recent identification of genetic diseases (incontinentia pigmenti, anhidrotic ectodermal dysplasia with immunodeficiency and cylindromatosis) resulting from mutations affecting components of the nuclear factor-kappaB (NF-kappaB) signaling pathway provides a unique opportunity to understand the function of NF-kappaB in vivo. Besides confirming the importance of NF-kappaB in innate and acquired immunity or bone mass control, analysis of these diseases has uncovered new critical roles played by this transcription factor in the development and homeostasis of the epidermis and the proper function of lymphatic vessels. In addition, the identified mutations will help understanding at the molecular level how NF-kappaB is activated in response to cell stimulation.
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