Mutations in Non-coding-DNA RegionsSynonyms: heteromorphisms, structural variants, polymorphisms.doi:10.1007/978-3-319-54099-3_3Claudia BehrendPraxis für Medizinische GenetikJavad Karimzad HaghPraxis für Medizinische GenetikParvin MehdipourTehran University of Medical SciencesGesa Schwanitz...
Long noncoding RNAs (lncRNAs) are linked to cancer via pathogenic changes in their expression levels. Yet, it remains unclear whether lncRNAs can also impact tumour cell fitness via function-altering somatic “driver” mutations. To search for such drive
Evolutionary conservation has been previously used for predicting the effect of SNPs on protein function [19,7] as well as on non-coding DNA [7]. In SIFT [19] the conservation of amino-acid residues are measured using protein sequence homology. In this method, a non-synonymous SNP (nsSNP)...
and in healthy breast cells. They found significant differences in how the cells expressed more than 1,800 long noncoding RNAs. About 500 of those were transcribed from locations on the opposite DNA strand from known protein-coding genes. Such RNAs are called...
Katainen, R., Donner, I., Cajuso, T.et al.Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer.Nat Protoc13, 2580–2600 (2018). https://doi.org/10.1038/s41596-018-0052-3 ...
Mutations in PMP22 and P0 genes were also excluded in this family. Cx32 gene analysis carried out by PCR-SSCP on family members genomic DNAs, running a 321 bp fragment spanning the TATA box, the trasciptional start site, and the non coding exon 1b, revealed a shift correlated with a ...
Glioblastoma (GBM) has one of the worst 5-year survival rates of all cancers. While genomic studies of the disease have been performed, alterations in the non-coding regulatory regions of GBM have largely remained unexplored. We apply whole-genome sequen
The primary objective of the present study was to search for genetic variation in the HNF-1alpha gene in nine nonrelated Danish Caucasian subjects with MODY. Direct sequencing of the coding region and intron-exon boundaries of the HNF-1alpha gene revealed 2 novel and 1 previously reported ...
ARTICLE Received 2 Feb 2015 | Accepted 25 Sep 2015 | Published 2 Nov 2015 DOI: 10.1038/ncomms9718 OPEN Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing Daniele Merico1,*, Maian Roifman2,3,4,*, Ulrich Braunschweig5, Ryan K...
(33/55) of the putativeFOXA1plexus CREs are positively marked by H3K27ac profiled in primary prostate tumors38, indicative of active CREs in tumors (Fig.2b)39. Next, considering that noncoding SNVs can target a set of CREs that converge on the same target gene in cancer32, we ...