3 articles for “exon case”

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Research ArticleOpen accessIn the abstractMinimum Free Energy Based Evaluation of mRNAs Secondary Structures Constructed by 18 Clinically Significant Exonic Single Nucleotide Polymorphisms (SNPs) and Haplotypes of 5 Missense SNPs of RB1 GeneSarder Nasir Uddin, Apurba Majumder, Khandker Khaldun Islam et al.Clinically significant 18 Single Nucleotide Polymorphisms (SNPs) from exon regions of Retinoblastoma gene (RB1) were analyzed to find out the structural variations in mRNAs. Online bioinformatic tools i.e., Vienna RNA, RNAfold were used for secondary structure analysis of mRNAs. Predicted minimum Free Energy Change (MFE) was calculated for mRNAs structures. It has been observed that the average of predicted MFE … …American Journal of Biochemistry and Biotechnology, Vol. 11, Issue 4 · 21 Oct 2015 · 8,556 accessesView PDF Cite

Research ArticleOpen accessIn the abstractUNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODSLivia Kotysova, Robert Petrovic, Jan ChandogaPrader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the … …OnLine Journal of Biological Sciences, Vol. 14, Issue 3 · 12 Nov 2014 · 7,006 accessesView PDF Cite

Research ArticleOpen accessIn the abstractMutations in Tumor suppressor TP53 Gene in Formalin- Fixed, Paraffin Embedded Tissues of Squamous Cell Carcinoma (SCC) of Lung CancerAbbas Mohammadi, Ali Vaziri Gohar, Mohamad Reza ShakibaieThe TP53 gene mutations have been extensively studied in lung cancer and have been used as a means to understand the origin(s) and mechanisms of these mutations in lung cancer development. TP53 gene mutations occur frequently in many human cancers. Analysis of TP53 gene mutations can also provide clues to the etiology of tumor formation. Formalin-fixed, paraffin embedded (FFPE) tissues … …American Journal of Biochemistry and Biotechnology, Vol. 4, Issue 1 · 31 Mar 2008 · 8,000 accessesView PDF Cite