Search results for "12a"
showing 10 items of 44 documents
CCDC 235065: Experimental Crystal Structure Determination
2005
Related Article: G.Stajer, F.Miklos, I.Kanizsai, F.Csende, R.Sillanpaa, P.Sohar|2004|Eur.J.Org.Chem.|2004|3701|doi:10.1002/ejoc.200400247
CCDC 838880: Experimental Crystal Structure Determination
2012
Related Article: J.Barjau, J.Fleischhauer, G.Schnakenburg, S.R.Waldvogel|2011|Chem.-Eur.J.|17|14785|doi:10.1002/chem.201102722
Associations of classic Kaposi sarcoma with common variants in genes that modulate host immunity
2006
AbstractClassic Kaposi sarcoma (CKS) is an inflammatory-mediated neoplasm primarily caused by Kaposi sarcoma–associated herpesvirus (KSHV). Kaposi sarcoma lesions are characterized, in part, by the presence of proinflammatory cytokines and growth factors thought to regulate KSHV replication and CKS pathogenesis. Using genomic DNA extracted from 133 CKS cases and 172 KSHV-latent nuclear antigen-positive, population-based controls in Italy without HIV infection, we examined the risk of CKS associated with 28 common genetic variants in 14 immune-modulating genes. Haplotypes were estimated for IL1A, IL1B, IL4, IL8, IL8RB, IL10, IL12A, IL13, and TNF. Compared with controls, CKS risk was decrease…
Association of JAK-STAT pathway related genes with lymphoma risk: results of a European case-control study (EpiLymph)
2011
Previous studies have suggested an important role for the Janus kinase-signal transducer and activator of transcription (JAK-STAT) signalling pathway in tumour development. Therefore, we explored genetic variants in JAK-STAT pathway associated genes with lymphoma risk. In samples of the EpiLymph case-control study we genotyped 1536 single nucleotide polymorphisms (SNPs) using GoldenGate BeadArray™ Technology (Illumina, San Diego, CA, USA). Here, we report the associations between selected SNPs and haplotypes of the JAK-STAT pathway and risk of Hodgkin lymphoma (HL), B-cell non-Hodgkin lymphoma (B-NHL) and most frequent B-NHL subtypes. Among 210 relevant JAK-STAT pathway-related SNPs, polymo…
Molecular mimicry may explain multi-organ damage in COVID-19
2020
International audience
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
2010
A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 × 10−11, odds ratio (OR) = 1.46), IRF5-TNPO3 (P = 2.8 × 10−10, OR = 1.63) and 17q12-21 (P = 1.7 × 10−10, OR = 1.38).
Detection and clinical implications of a novel BCR-ABL1 E12A2 insertion/deletion in a CML patient expressing the E13A2 isoform
2019
Background/Aim: The Philadelphia chromosome is the most frequent cytogenetic abnormality in chronic myelogenous (CML). More than 95% of CML patients are diagnosed with the e13a2 or e14a2 BCR-ABL1 fusion transcripts while, in about 1% of these individuals, the break generates the e1a2 rearrangement. Furthermore, about 5% of CML patients are diagnosed with rare BCR-ABL1 fusion transcripts, such as e19a2, e8a2, e13a3, e14a3, e1a3 and e6a2. However, there is limited evidence concerning the clinical and prognostic implications of these infrequent oncogenic variants for CML patients receiving tyrosine kinase inhibitors (TKIs). Case Report: We describe a novel atypical e12a2 insertion/deletion (In…
CCDC 652752: Experimental Crystal Structure Determination
2009
Related Article: A.Valkonen, M.Lahtinen, J.Tamminen, E.Kolehmainen|2008|J.Mol.Struct.|886|197|doi:10.1016/j.molstruc.2007.11.018
IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci
2010
A recent meta-analysis identified seven single-nucleotide polymorphisms (SNPs) with suggestive evidence of association with multiple sclerosis (MS). We report an analysis of these polymorphisms in a replication study that includes 8,085 cases and 7,777 controls. A meta-analysis across the replication collections and a joint analysis with the discovery data set were performed. The possible functional consequences of the validated susceptibility loci were explored using RNA expression data. For all of the tested SNPs, the effect observed in the replication phase involved the same allele and the same direction of effect observed in the discovery phase. Three loci exceeded genome-wide significa…
CCDC 219569: Experimental Crystal Structure Determination
2005
Related Article: A.Valkonen, M.Lahtinen, E.Virtanen, S.Kaikkonen, E.Kolehmainen|2004|Biosens.Bioelectron.|20|1233|doi:10.1016/j.bios.2004.06.029