These sequences are extremely prone to mutations and rank among the most functionally important regions in the entire human ...

A new paper from the laboratory of David Liu, PhD, at the Broad Institute describes a genome-editing strategy that could result in a one-time treatment for multiple unrelated genetic diseases. The new ...

A novel nonsense variant in RTEL1 gene contributes to familial pulmonary fibrosis, emphasizing telomere-related gene mutations in interstitial lung disease. Genetic testing is essential for diagnosing ...

A gene mutation is a permanent alteration in the DNA sequence of a gene. These changes can be as small as a single base pair or involve a large segment of DNA. Gene mutations are primarily categorized ...

Edward Lear, author of “The Owl and the Pussy-cat” and “A Book of Nonsense,” felt such a kinship with parrots that he wished he could become one. By Jon Scieszka Jon Scieszka is the author of many ...

TP53 mutations, including missense and inactivating (frameshift, splice site, and nonsense) mutations, occur in approximately 10% of myeloid neoplasms and confer adverse outcomes. Classification of ...

Background: Congenital erythropoietic porphyria (CEP, OMIM #263700) is a rare autosomal recessive disease characterized by skin photosensitivity, hypertrichosis, scarring in light-exposed areas, ...

Models for mutation effect prediction in coding sequences rely on sequence-, structure-, or homology-based features. Here, we introduce a novel method that combines a codon language model with a ...

Here, the authors developed a cell-based screening assay for the identification of small molecule inhibitors of nonsense-mediated decay (NMD), and used it to validate KVS0001, a new small molecule ...