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miR-210 loss leads to widespread phenotypic and gene expression changes in human 293T cells.
Front Genet
December 2024
Department of Zoology, College of Life Sciences, Nanjing Agricultural University, Nanjing, Jiangsu, China.
Introduction: Hypoxia responses are critical for myriad physiological and pathological processes, such as development, tissue repair, would healing, and tumorigenesis. microRNAs (miRNAs) are a class of small non-coding RNAs that exert their functions by inhibiting the expression of their target genes, and miR-210 is the miRNA universally and most conspicuously upregulated by hypoxia in mammalian systems. For its relationship to hypoxia, miR-210 has been studied extensively, yet no consensus exists on the roles and mechanisms of miR-210 in human physiological processes or diseases, and we know little about genuine miR-210 target genes in humans.
View Article and Find Full Text PDFScrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens.
Hum Genomics
December 2024
Department of Clinical Neurosciences, 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania.
Neurodegenerative diseases present complex genetic architectures, reflecting a continuum from monogenic to oligogenic and polygenic models. Recent advances in multi-omics data, coupled with systems genetics, have significantly refined our understanding of how these data impact neurodegenerative disease mechanisms. To contextualize these genetic discoveries, we provide a comprehensive critical overview of genetic architecture concepts, from Mendelian inheritance to the latest insights from oligogenic and omnigenic models.
View Article and Find Full Text PDFInternational consensus on research priorities in hypospadias using a Delphi study approach.
J Pediatr Urol
December 2024
Department of Public Health, College of Health Sciences, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar.
Introduction: Hypospadias is a common congenital anomaly of the male genitalia that poses significant management and treatment challenges. Gaining a comprehensive understanding of priority research questions in hypospadiology will be essential to reach agreement on the optimal approach to assessment, treatment, and outcome prediction for affected patients.
Methods: We employed a consensus-building Delphi method to identify and prioritize research questions in the hypospadias field.
Tumor gene expression is associated with venous thromboembolism in patients with ductal pancreatic adenocarcinoma.
Thromb Res
December 2024
Department of Medicine, Division of Thrombosis and Hemostasis, Leiden University Medical Center, the Netherlands.
Introduction: In patients with pancreatic cancer, the risk of venous thromboembolism (VTE) is high compared to other cancer types, suggesting that tumor-intrinsic features drive hypercoagulability. Tumor gene expression analysis may help unravel the pathogenesis of VTE in these patients and help to identify high-risk patients.
Aim: To evaluate the association between tumor gene expression patterns and VTE in patients with pancreatic cancer.
Unravelling Heterogeneity: A Rare PNPT1 Variant in Childhood-Onset Spinocerebellar Ataxia with Sensorineural Hearing Loss.
Cerebellum
December 2024
Department of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.
Spinocerebellar ataxias (SCAs) are a diverse and heterogeneous group of inherited neurodegenerative disorders marked by progressive ataxia and cerebellar degeneration. This case report details an 11-year-old Indian boy with childhood-onset ataxia and severe sensorineural hearing loss, a rarely reported concomitance in pediatric neurology. Genetic analysis identified a unique heterozygous 3' splice site variant in the PNPT1 gene (c.
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