We find that a noncoding mutation acquired during lymphoma progression affects noncoding rRNA processing, thereby rewiring protein synthesis leading to oncogenic changes in the lymphoma proteome.doi:10.1038/s41588-023-01561-1Rebecca J. Leeman-Neill...
Despite the oncogenic roles of FOXA1, therapeutic avenues to inhibit its activity in prostate cancer are lacking. In the breast cancer setting for instance, the use of cyclin-dependent kinases inhibitors have been suggested based on their ability to block FOXA1 activity on chromatin28. As such, ...
The HGMD regulatory mutation model was trained with L1 regularization parameter 20 and L2 regularization parameter 2,000 for ten iterations. eQTL and GWAS SNP models were trained with L1 regularization parameter 0 and L2 regularization parameter 10 for 100 iterations. 可以看到这两个数据是分开train的,...
lung cancermutationtargeted sequencingcancer of unknown originLung cancer arises from the accumulation of genetic mutations, usually in exons. A recent study identified indel mutations in the noncoding region of surfactantdoi:10.2139/ssrn.3279166Nakagomi, Takahiro...
In human mutation R482X, the protein is truncated in the middle of a domain that interacts with the C-terminus of the α1A subunit. Noncoding Variation in CACNB4 Eight noncoding variants were identified by CSGE analysis of exons amplified from genomic DNA (table 1). Two of these non...
Genome-wide cancer mutation analyses revealed that the aberrant expressions of thousands of lncRNAs are associated with different cancer types. Some of them have been linked to malignant transformation and have been proposed as potential biomarkers in cancer. lncRNAs function either by guiding epigenetic...
Unraveling functional noncoding variants associated with complex diseases is still a great challenge. We present a novel algorithm, Prioritization And Functional Assessment (PAFA), that prioritizes and assesses the functionality of genetic variants by in
Ladanyi M, Su P-F, Sequist LV, Khuri FR, Garon EB, Pao W, Rudin CM, Schiller JH, Haura EB, Giaccone G, Minna JD, Bunn PA (2013b) A multicenter effort to identify driver mutations and employ targeted therapy in patients with lung adenocarcinomas: the lung cancer mutation consortium ...
MALAT1 lncRNA expression levels seem to be correlated with c-KIT mutation status. The percentage of both H19 and MALAT1 upregulation was significantly higher in patients with time to progression (TTP) < 6 months as compared to patients with TTP > 6 months. The median TTP was...
5 Somatically acquired noncoding mutation activating TAL1 in T-ALL sample SJALL018373. (a) The heterozygous C to T mutation (indicated by arrow, with mutant allele T shown in red) was only present in the tumor DNA but not in the remission sample from whole genome sequencing data. (b) ...