MicroRNAs (miRNAs) play key roles in cancer development by regulating genes involved in cell growth, differentiation, invasion, metastasis and angiogenesis. Because their expression patterns differ across tumor types and stages, miRNA profiles hold strong potential as noninvasive diagnostic and prognostic biomarkers.
Esophageal cancer is among the most lethal cancers with a high mortality rate worldwide. Chinese researchers have explored the potential link between long intergenic non-protein coding RNA 1354 (LINC01354) and esophageal cancer.
Hirsutism is the excessive hair growth in women in male-typical areas, usually associated with androgen excess and other conditions such as polycystic ovary syndrome (PCOS). The genetic basis of hirsutism remains poorly understood; researchers from the University of Oulu and collaborators performed a meta-analysis of genome-wide association studies from 4,834 cases of hirsutism and 352,966 controls across three cohorts.
Restrictive element-1 silencing transcription factor (REST) has key roles in neuronal differentiation, structural remodeling and plasticity, contributing to neuronal homeostasis in postnatal neurons. It acts as a suppressor of neuronal gene expression in stem and progenitor cells, and abnormal accumulation of it has been linked to several neurological disorders, like Huntington’s disease, epilepsy and stroke.
Primary open-angle glaucoma (POAG) is among the leading causes of irreversible blindness. Early detection and treatment are crucial for vision preservation, and research to identify genes associated with POAG is ongoing.
Meningiomas are usually grade I benign tumors that can turn into aggressive grade II or III malignant tumors. Genome-wide methylation analysis has shown that microRNA 1265 (miR-1265) is hypermethylated in meningiomas.
Endometrial cancer is the most prevalent gynecological malignancy in high-income countries, and the discovery of new biomarkers may aid in earlier detection and improve the prognosis of patients.
To identify potential biomarkers of interstitial lung disease, researchers at West China Hospital of Sichuan University and Minda Hospital of Hubei Minzu University mined the Gene Expression Omnibus database of transcriptomes as well as compared tissues across healthy individuals and patients with connective tissue disease, who had interstitial lung disease or not.
A recent study published in PLOS Genetics has identified several novel genetic variants associated with the risk of orofacial clefts, a common and complex congenital disability. Orofacial clefts are caused by a combination of genetic and environmental factors and can occur in isolation or simultaneously with other birth defects.
A team of U.S. and South Korean researchers have developed an AI model called MSI-SEER that can not only predict microsatellite instability-high (MSI-H) tumors based on tissue slides, but also flag “what it does not know.” “Have you ever asked ChatGPT anything, and the response was, ‘I don’t know?’” Cheong Jae-ho asked during an interview with BioWorld. “Probably not, and that is the problem with AI now.”
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