CARD9

CARD9

A gene on chromosome 9q34.3 that encodes a protein which activates NF-kappa-B by binding to BCL10 by a CARD–CARD interaction. It is highly expressed in the spleen, less so in the liver, placenta, lung, leukocytes and brain.

Molecular pathology
CARD9 mutations cause autosomal recessive chronic mucocutaneous candidiasis type 2.
References in periodicals archive ?
The role of Card9 over-expression in peripheral bloodmononuclear cells from patients with aseptic acute pancreatitis.
In addition, TNFSF15, TRADD, and CARD9 genes were also reported to be important in the regulation of Th17 cell development and proliferation [49, 50].
CMC may be the single or coexisting infectious condition in some other PID syndromes such as autosomal recessive (AR) autoimmune polyendocrinopathy syndrome type I (AR AIRE mutations), autosomal dominant (AD) hyper IgE syndrome (AD STAT3 mutations), AR caspase recruitment domaincontaining protein 9 (CARD9) deficiency with invasive fungal diseases, AR IL12 receptor-beta1, and IL12-p40 deficiency causing susceptibility to mycobacterial diseases.
This proposal has been reinforced with the new discovery of genetic associations with each respective phenotype, including genetic loci of 2p15(REL), 3p21(MST1), and 9q35(CARD9) [23].
With the rapid development of new high-throughput technologies and largescale collaborations worldwide, researchers have found 200 genetic risk loci associated with IBD, including NOD2/ CARD15, ATG16L1, IRGM, CARD9, RNF186, PRDM1, IL-23R, and IL-10 [74-76].
Leducq et al., "CARD9 impacts colitis by altering gut microbiota metabolism of tryptophan into aryl hydrocarbon receptor ligands," Nature Medicine, vol.
The messenger RNA (mRNA) expressions of toll-like receptor-2 (TLR2), TLR4, and CARD9 were moderately up-regulated in HaCaT within 6-h applications of both supernatants.
(6-14,15,17-21-23) Table 3: Summary of the most frequent genomic alterations in BPDCN Change Chromosome Cytoband Loss 13 q12.11-q34 Loss 12 p13.2 Loss 9 p21.3 Loss 9 q34 Loss 5 q23.1-a35.2 Loss 15 q11.2-a26.3 Loss 3 p22.2-p21.1 Loss 19 p13.4-p13.2 Loss 17 p13.3-p11.2 Loss 7 p22.3-p22.1 Loss 6 q23.3-q27 Change % of patients Candidate genes Loss 50-78 RB1 Loss 50-67 CDKN1B, ETV6 Loss 50-66 CDKN2A, CDKN2B, MTAP Loss 50-55 NOTCH, TRAF2, CARD9 Loss 21-44 SMAD5, MSH3, MCC, APC Loss 33-36 CYP1A1 Loss 29 PTPN23 Loss 22-29 CDKN2D, PRKCSH Loss 22 TP53 Loss 21 MAD1L1 Loss 11-21 PARK2 Table 3: Summary of the most frequent genomic alterations in BPDCN.
/DATA-'lucas.sav" /FACTORS=Preco(LINEAR LESS)DURABILIDADE(LINEAR MORE) PARCELAMENTO (LINEAR MORE) COMPRAPRAJUDARCLUBE(DISCRETE) /SCORE-CARD1 TO CARD9 /UTILITY-'lucas.sav" /PRINT ALL /PLOT-ALL /SUBJECT-id Fonte: Elaborado pelo autor com base na reducao ortogonal do software SPSS 18.0 3.2.4 PERFIL DOS RESPONDENTES
The Consortium is currently testing all novel loci in an independent set of 10,000 UC patients and a similar number of population controls to confirm these findings, but even the preliminary results provide "convincing evidence," he said, of associations to genes of biological significance to disease pathogenesis: TNFRSF14, JAK2, CARD9 and others.
A mutation can interfere with one link in that chain, a molecule called CARD9, the researchers found.
CahootCredit Card9.8%I nterest-free period: 46 days