Splicing

Genomic study advances prioritization of variants in cancer diagnostics

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Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among the large number of variants of uncertain significance (VUS) detected in comprehensive genomic profiling (CGP) of cancers. This framework could improve the accuracy of precision oncology by more reliable prioritization of VUS. Comprehensive genomic profiling (CGP) enables comprehensive detection of … Read more

Predicting cancer behavior through splicing fingerprints

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Cancer is caused by faulty genes, but what also shapes a cancer cell’s behaviour is how a gene’s instructions are trimmed and rearranged before they are turned into the proteins that keep a cell alive. A study published in Nature Communications reveals a new way of measuring that editing process, known as splicing, directly. It … Read more

FOXJ3 gene identified as the critical link between abnormal brain development and epilepsy

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Researchers have discovered that mutations in the FOXJ3 gene act as a “master switch” failure, disrupting how the brain builds its layers and leading to FCD, a primary cause of drug-resistant epilepsy. The study reveals how FOXJ3 controls the formation of brain cortical layers during brain development by regulating the PTEN–mTOR signaling pathway. The PTEN-mTOR … Read more

Researchers uncover a new genetic cause of neurodevelopmental disorders

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A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been searching … Read more

Groundbreaking study unveils key mechanism for neuronal identity regulation

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A team of researchers from the Institute for Neurosciences, a joint center of the Spanish National Research Council (CSIC) and the Miguel Hernández University (UMH) of Elche, in collaboration with researchers from Columbia University (New York, USA), has identified a mechanism that regulates the production of two different proteins from the same gene. This discovery, … Read more

Understanding the role of alternative splicing in cardiovascular diseases

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Announcing a new article publication for Cardiovascular Innovations and Applications journal. Alternative splicing (AS), a critical process for gene expression regulation, allows a single precursor RNA to produce multiple transcript variants. Alterations in exon exclusion, intron retention, or the selection of alternative splice sites modify transcript isoforms, which can consequently affect RNA molecules, including mRNA … Read more