CARD15 mutations in Blau syndrome

By C. Miceli-Richard, S. Lesage, M. Rybojad, A. Prieur, S. Manouvrier-Hanu, R. Häfner, M. Chamaillard, H. Zouali, G. Thomas, J. Hugot. Nature Genetics, 2001

984 citations recorded by the source corpus.

Subfields: Epidemiology, Molecular Biology, Physiology

View Paper: https://www.semanticscholar.org/paper/4fc4102e29b00f791fa541c2cd58d81eaf0d9b56

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Epidemiology

1. Shizuo Akira
2. Satoshi Uematsu
3. J. Tschopp
4. K. Takeda
5. G. Núñez
6. Taro Kawai
7. O. Takeuchi
8. R. Medzhitov

In Molecular Biology

1. Shizuo Akira
2. C. A. Dinarello
3. G. Núñez
4. Kate Schroder
5. J. Tschopp
6. L. Franchi
7. Satoshi Uematsu
8. N. Warner

In Physiology

1. G. Núñez
2. Kate Schroder
3. J. Tschopp
4. L. Franchi
5. C. A. Dinarello

Citations in the corpus

• Genome-Wide Analysis of NBS-LRR–Encoding Genes in Arabidopsis Online version contains Web-only data. Article, publication date, and citation information can be found at www.plantcell.org/cgi/doi/10.1105/tpc.009308. (2003, background): “…these proteins have been implicated in autoinflammatory diseases, suggesting that NBS-LRR proteins may be involved directly in the regulation of programmed cell death and innate immune responses in animals (Hoffman et al., 2001; Hugot et al., 2001; Miceli-Richard et al., 2001; Ogura et al., 2001).”
• Toll-like receptors and innate immunity (2006, background): “In the NOD2 signaling pathway, activation of RICK leads to K63 (Lys63)-linked polyubiquitylation of NEMO/IKKγ, which is followed by phosphorylation of IKKβ and the phosphorylation of IκB, leading to the translocation of NF-κB to the nucleus [81, 82].”
• De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. (2002, background): “Within the last 5 years, the genetic basis of several autoinflammatory diseases with Mendelian inheritance, including familial Mediterranean fever (FMF) (4,5), familial Hibernian fever (now renamed the tumor necrosis factor receptor–associated periodic syndrome [TRAPS]) (1), the hyperimmunoglobuline”
• Toll-like receptors in innate immunity. (2004, positive): “NOD2 mutations are also associated with Blau syndrome, a disease characterized by granulomatous arthritis, uveitis and skin rash (63).”
• Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). (2009, background): “Whereas certain variants in NOD2 are risk factors for CD, a different subset of NOD2 sequence substitutions are high-penetrance, dominantly inherited mutations that cause BS (28).”
• Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. (2002, background): “Several other proteins from the CED4/Apaf1 family of proteins (Zou et al. 1997), including members of the caspase activation and recruitment domain family, share the same domain architecture (Hlaing et al. 2001; Mar-tinon et al. 2001; Miceli-Richard et al. 2001).”