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Chromosome 11 open reading frame 30

EMSY, EMSY protein, C11orf30
Top mentioned proteins: Iris, c-Myc, CAN, erbB-2, PCNA
Papers on EMSY
From genetics to treatment of eosinophilic esophagitis.
New
Spergel et al., Philadelphia, United States. In Curr Opin Allergy Clin Immunol, Oct 2015
Genetic studies have shown that EoE is associated with single nucleotide polymorphism on genes, which are released by the epithelium and important in atopic inflammation such as thymic stromal lymphopoietin located (TSLP) close to the Th2 cytokine cluster [interleukin (IL)-4, IL-5, IL-13] on chromosome 5q22, Calpain 14, EMSY, and Eotaxin3.
eQTL of bronchial epithelial cells and bronchial alveolar lavage deciphers GWAS-identified asthma genes.
New
Bleecker et al., Winston-Salem, United States. In Allergy, Oct 2015
CONCLUSIONS: Our study illustrates cell-type-specific regulation of the expression of asthma-related genes documenting SNPs in TSLP, GSDMB, IL33, HLA-DQB1, C11orf30, DEXI, CDHR3, and ZBTB10 affect asthma risk through cis-regulation of its gene expression.
Discovering susceptibility genes for allergic rhinitis and allergy using a genome-wide association study strategy.
Review
New
Zhang et al., Beijing, China. In Curr Opin Allergy Clin Immunol, Feb 2015
Allergic diseases and traits have been shown to share a large number of genetic susceptibility loci, of which IL33/IL1RL1, IL-13-RAD50 and C11orf30/LRRC32 appear to be important for more than two allergic phenotypes.
Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Lee et al., Berlin, Germany. In Nat Commun, 2014
C11orf30/LRRC32 (11q13.5)
Blocking the PI3K/AKT pathway enhances mammalian reovirus replication by repressing IFN-stimulated genes.
Qu et al., Harbin, China. In Front Microbiol, 2014
We also found that reovirus infection activated the IFN-stimulated response element (ISRE) in an interferon-independent manner and up-regulated IFN-stimulated genes (ISGs) via the PI3K/Akt/EMSY pathway.
[Association of polymorphisms in toll-like receptor genes with atopic dermatitis in the Republic of Bashkortostan].
Khusnutdinova et al., In Mol Biol (mosk), 2014
In this study polymorphic variants of PRR genes--Toll-like receptors (TLR1, TLR2, TLR4, TLR5, TLR6, TLR9, TLR10), NOD-like receptors (NOD1, NOD2), lipopolysaccharide receptor CD14 gene, and C11orf30 and LRRC32 genes, located in 11q13.5 region, have been investigated in AD patients and control subjects from the Republic of Bashkortostan.
A novel mechanism of regulation of the anti-metastatic miR-31 by EMSY in breast cancer.
O'Connor et al., Dublin, Ireland. In Breast Cancer Res, 2013
The recent publication by Viré et al. in Molecular Cell demonstrates for the first time that one mechanism of regulation of miR-31 is through the putative oncogene EMSY, whose amplification in breast cancer patients correlates with reduced expression of the miRNA.
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
Impact
EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium et al., Copenhagen, Denmark. In Nat Genet, 2013
We increased the number of susceptibility loci with genome-wide significant association with allergic sensitization from three to ten, including SNPs in or near TLR6, C11orf30, STAT6, SLC25A46, HLA-DQB1, IL1RL1, LPP, MYC, IL2 and HLA-B.
Genome-wide association studies of allergic diseases.
Review
Hirota et al., Japan. In Allergol Int, 2013
Interestingly, the IL1RL1, HLA, IL13 and C11orf30 regions are overlapping susceptibility loci among atopic dermatitis and asthma or allergic rhinitis.
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
Impact
Tamari et al., Yokohama, Japan. In Nat Genet, 2012
We also replicated the associations of the FLG, C11orf30, TMEM232-SLC25A46, TNFRSF6B-ZGPAT, OVOL1, ACTL9 and KIF3A-IL13 loci that were previously reported in GWAS of European and Chinese individuals and a meta-analysis of GWAS for atopic dermatitis.
The protein kinase Akt1 regulates the interferon response through phosphorylation of the transcriptional repressor EMSY.
GeneRIF
Tsichlis et al., Boston, United States. In Proc Natl Acad Sci U S A, 2012
Akt1 regulates the interferon response through phosphorylation of the transcriptional repressor EMSY
The C11orf30-LRRC32 region is associated with total serum IgE levels in asthmatic patients.
GeneRIF
Meyers et al., In J Allergy Clin Immunol, 2012
There are 2 independent signals, one in C11orf30 and the other in LRRC32, that are strongly associated with serum IgE levels. C11orf30-LRRC32 region may represent a common locus for atopic diseases via pathways involved in regulation of serum IgE levels
EMSY and CCND1 amplification in familial breast cancer: from the Ontario site of the Breast Cancer Family Registry.
GeneRIF
Andrulis et al., Hamilton, Canada. In Breast Cancer Res Treat, 2011
EMSY amplification does occur independently of CCND1 amplification in a minority of familial breast cancers, supporting its role as a possible breast cancer oncogene
EMSY overexpression disrupts the BRCA2/RAD51 pathway in the DNA-damage response: implications for chromosomal instability/recombination syndromes as checkpoint diseases.
GeneRIF
Belmaaza et al., Montréal, Canada. In Mol Genet Genomics, 2011
EMSY amplification may mimic BRCA2 deficiency, at least by overriding RPA and PALB2, crippling the BRCA2/RAD51 complex at DNA-damage and replication/transcription sites
Expression of EMSY gene in sporadic ovarian cancer.
GeneRIF
Buyru et al., İstanbul, Turkey. In Mol Biol Rep, 2011
Sporadic ovarian cancer shows overexpression of EMSY at a prevalence similar to that found in breast cancer and the overexpression is correlated with the protein level.
[Genetics of allergic diseases].
Review
Noguchi, Tsukuba, Japan. In Nihon Rinsho, 2009
Recent advances in the genetic technology allow us to perform genome-wide association studies (GWAS), and identified several novel susceptibility genes such as ORMDL3 for childhood asthma and C11orf30 for atopic dermatitis.
A common variant on chromosome 11q13 is associated with atopic dermatitis.
Impact
Ruether et al., Berlin, Germany. In Nat Genet, 2009
located 38 kb downstream of C11orf30 (P(combined) = 7.6 x 10(-10)).
Oncogenic pathways in hereditary and sporadic breast cancer.
Review
Verheijen et al., Amsterdam, Netherlands. In Maturitas, 2004
However, non-mutational functional suppression could result from various mechanisms, such as hypermethylation of the BRCA1 promoter or binding of BRCA2 by EMSY.
The BRCA2-EMSY connection: implications for breast and ovarian tumorigenesis.
Review
Impact
Haber, United States. In Cell, 2003
In this issue, Hughes-Davies et al. describe a novel gene product, EMSY, which suppresses the transactivational activity of BRCA2.
EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer.
Impact
GeneRIF
Kouzarides et al., Cambridge, United Kingdom. In Cell, 2003
The remarkable clinical overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer.
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