Integrated whole transcriptome and small RNA analysis revealed multiple regulatory networks in colorectal cancer حسب Hibah Shaath (5599658)

"…Herein, we performed microRNA (miRNA) sequencing on fifteen CRC and their non-tumor adjacent tissues and whole transcriptome RNA-Seq on six paired samples from the same cohort and identified alterations in miRNA, mRNA, and lncRNA expression. Computational analyses using Ingenuity Pathway Analysis (IPA) identified multiple activated signaling networks in CRC, including ERBB2, RABL6, FOXM1, and NFKB networks, while functional annotation highlighted activation of cell proliferation and migration as the hallmark of CRC. …"

Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia حسب Ali Zaki Ibrahim (17092957)

"…The PCCA gene sequencing revealed a novel homozygous missense variant affecting the locus (chr13:100962160) of exon 16 of the PCCA gene, resulting in the substitution of the amino acid arginine with proline at site 476 (p.Arg476Pro). Computational analyses revealed that the novel variant might have a pathogenic effect that attributed to decreased protein stability, and also has an effect on the biotin carboxylase c-terminal domain of the propionyl carboxylase enzyme. …"