Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.
Pharmacogenomics (PGx) studies the use of genetic data to optimize drug therapy. Numerous clinical centers have commenced implementing pharmacogenetic tests in clinical routines. Next-generation sequencing (NGS) technologies are emerging as a more comprehensive and time- and cost-effective approach in PGx. This review presents the main considerations for applying NGS in guiding drug treatment in clinical practice. It discusses both the advantages and the challenges of implementing NGS-based tests in PGx. Moreover, the limitations of each NGS platform are revealed, and the solutions for setting up and management of these technologies in clinical practice are addressed.
MicroRNA (miRNA)-dependent pathways are one of the newest gene regulation mechanisms in various diseases, particularly in cancers. miRNAs are endogenous noncoding RNAs with about 18 to 25 nucleotide length, which can regulate the expression of at least 60% of human total genome posttranscriptionally. Quercetin is the most abundant flavonoid in a variety of fruits, flowers, and medical herbs, known as a strong free radical scavenger that could show antioxidant, anti-inflammatory, and antitumor activities. Recent studies also reported its strong impact on various miRNA expressions in different abnormalities. In this review, we aimed to summarize the studies focused on the effects of quercetin on different miRNA expressions to more clear the main possible mechanisms of quercetin influences and introduce it as a beneficial agent for regulation of miRNAs in various biological directions.
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