Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 CARD15 mutations in Blau syndrome.

Literature DB >> 11528384

CARD15 mutations in Blau syndrome.

C Miceli-Richard¹, S Lesage, M Rybojad, A M Prieur, S Manouvrier-Hanu, R Häfner, M Chamaillard, H Zouali, G Thomas, J P Hugot.

Abstract

We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German families with Blau syndrome. Our findings indicate that, in addition to Crohn disease, CARD15 is involved in the susceptibility to a second granulomatous disorder.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2001 PMID： 11528384 DOI： 10.1038/ng720

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

Keyword Cloud
Cited

279 in total

1. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.

Authors: H M Hoffman; A A Wanderer; D H Broide
Journal: J Allergy Clin Immunol Date: 2001-10 Impact factor: 10.793

2. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

Authors: Catherine Dodé; Nathalie Le Dû; Laurence Cuisset; Frank Letourneur; Jean-Marie Berthelot; Gérard Vaudour; Alain Meyrier; Richard A Watts; David G I Scott; Anne Nicholls; Brigitte Granel; Camille Frances; François Garcier; Patrick Edery; Serge Boulinguez; Jean-Paul Domergues; Marc Delpech; Gilles Grateau
Journal: Am J Hum Genet Date: 2002-04-25 Impact factor: 11.025

3. Genetic evidence for interaction of the 5q31 cytokine locus and the CARD15 gene in Crohn disease.

Authors: Muddassar M Mirza; Sheila A Fisher; Kathy King; Andrew P Cuthbert; Jochen Hampe; Jeremy Sanderson; John Mansfield; Peter Donaldson; Andrew J S Macpherson; Alastair Forbes; Stefan Schreiber; Cathryn M Lewis; Christopher G Mathew
Journal: Am J Hum Genet Date: 2003-03-03 Impact factor: 11.025

CARD15 mutations in Blau syndrome.

1. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.

2. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

3. Genetic evidence for interaction of the 5q31 cytokine locus and the CARD15 gene in Crohn disease.

4. Investigation of the differential potentials of TLR agonists to elicit uveitis in mice.

Review 5. Inhibition of pattern recognition receptor-mediated inflammation by bioactive phytochemicals.

6. Card15 gene overexpression in mononuclear and epithelial cells of the inflamed Crohn's disease colon.

Review 7. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.

8. NOD1 expression in the eye and functional contribution to IL-1beta-dependent ocular inflammation in mice.

9. Blimp-1/PRDM1 mediates transcriptional suppression of the NLR gene NLRP12/Monarch-1.

10. A genome-wide siRNA screen reveals positive and negative regulators of the NOD2 and NF-κB signaling pathways.