The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
Abstract
The transcription factor NF-kappaB regulates the expression of numerous genes controlling the immune and stress responses, inflammatory reaction, cell adhesion, and protection against apoptosis. Incontinentia pigmenti (IP) is the first genetic disorder to be ascribed to NF-kappaB dysfunction. IP is an X-linked dominant genodermatosis antenatally lethal in males. A complex rearrangement of the NEMO (NF-kappaB essential modulator) gene accounts for 85% of IP patients, and results in undetectable NEMO protein and absent NF-kappaB activation. On the other hand, hypohidrotic/anhidrotic ectodermal dysplasia (HED/EDA) has been ascribed to at least three genes also involved in NF-kappaB activation: ectodysplasin (EDA1), EDA-receptor (EDAR) and EDAR-associated death domain (EDARADD). During hair follicle morphogenesis, EDAR is activated by ectodysplasin, and uses EDARADD as an adapter to build a signal transducing complex that leads to NF-kappaB activation. Hence, several forms of HED/EDA also result from impaired activation of the NF-kappaB cascade. Finally, hypomorphic NEMO mutations have been found to cause anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), whilst stop codon mutations cause a more severe phenotype associating EDA-ID with osteopetrosis and lymphoedema (OL-EDA-ID). The immunological and infectious features observed in patients result from impaired NF-kappaB signalling, including cellular response to LPS, IL-1beta, IL-18, TNF-alpha, Tlr2 and CD40 ligand. Consistently, mouse knockout models have shown the essential role of NF-kappaB in the immune, inflammatory and apoptotic responses. Unravelling the molecular bases of other forms of EDA not associated with mutations in NEMO will possibly implicate other components of the NF-kappaB signalling pathway.
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Cites
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Self-citationGenomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti
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A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function
Feske, S., Gwack, Y., Prakriya, M., Srikanth, S., Puppel, S.-H., Tanasa, B., Hogan, P. G., Lewis, R. S., Daly, M., & Rao, A. (2006) · Nature · doi:10.1038/nature04702 · Cited by 2,288
Nuclear factor-?B: its role in health and disease
Kumar, A., Takada, Y., Boriek, A., & Aggarwal, B. (2004) · Journal of Molecular Medicine · doi:10.1007/s00109-004-0555-y · Cited by 933
The IKK Complex, a Central Regulator of NF- B Activation
Israel, A. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a000158 · Cited by 849
Bustamante, J., Boisson-Dupuis, S., Abel, L., & Casanova, J.-L. (2014) · Seminars in Immunology · doi:10.1016/j.smim.2014.09.008 · Cited by 684
SHARPIN is a component of the NF-κB-activating linear ubiquitin chain assembly complex
Tokunaga, F., Nakagawa, T., Nakahara, M., Saeki, Y., Taniguchi, M., Sakata, S.-I., Tanaka, K., Nakano, H., & Iwai, K. (2011) · Nature · doi:10.1038/nature09815 · Cited by 609
Metadata
- Authors
- Smahi, A.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2002-10-01
- Volume
- 11
- Issue
- 20
- Pages
- 2371-2375
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2131653304
- Cited by
- 300
- References
- 37
- FWCI
- 8.84
- Type
- journal article
- Language
- en
- Open access
- closed
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- Smahi, A. (2002). The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Human Molecular Genetics. https://doi.org/10.1093/hmg/11.20.2371
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