Alternative splicing as a source of phenotypic diversity
A major goal of evolutionary genetics is to understand the genetic processes that give rise to
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …
Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …
A compendium of mutational cancer driver genes
A fundamental goal in cancer research is to understand the mechanisms of cell
transformation. This is key to developing more efficient cancer detection methods and …
transformation. This is key to developing more efficient cancer detection methods and …
Mutations and mechanisms of WNT pathway tumour suppressors in cancer
Mutation-induced activation of WNT–β-catenin signalling is a frequent driver event in human
cancer. Sustained WNT–β-catenin pathway activation endows cancer cells with sustained …
cancer. Sustained WNT–β-catenin pathway activation endows cancer cells with sustained …
Proteogenomic insights into the biology and treatment of HPV-negative head and neck squamous cell carcinoma
We present a proteogenomic study of 108 human papilloma virus (HPV)-negative head and
neck squamous cell carcinomas (HNSCCs). Proteomic analysis systematically catalogs …
neck squamous cell carcinomas (HNSCCs). Proteomic analysis systematically catalogs …
Quality and quantity control of gene expression by nonsense-mediated mRNA decay
T Kurosaki, MW Popp, LE Maquat - Nature reviews Molecular cell …, 2019 - nature.com
Nonsense-mediated mRNA decay (NMD) is one of the best characterized and most
evolutionarily conserved cellular quality control mechanisms. Although NMD was first found …
evolutionarily conserved cellular quality control mechanisms. Although NMD was first found …
[HTML][HTML] Genomic basis for RNA alterations in cancer
PCAWG Transcriptome Core Group Calabrese Claudia … - Nature, 2020 - nature.com
Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …
RNA alterations have been described in cancer, including overexpression, altered splicing …
Nonsense-mediated RNA decay: an emerging modulator of malignancy
K Tan, DG Stupack, MF Wilkinson - Nature Reviews Cancer, 2022 - nature.com
Nonsense-mediated RNA decay (NMD) is a highly conserved RNA turnover pathway that
selectively degrades RNAs harbouring truncating mutations that prematurely terminate …
selectively degrades RNAs harbouring truncating mutations that prematurely terminate …
To NMD or not to NMD: nonsense-mediated mRNA decay in cancer and other genetic diseases
The nonsense-mediated mRNA decay (NMD) pathway degrades some but not all mRNAs
bearing premature termination codons (PTCs). Decades of work have elucidated the …
bearing premature termination codons (PTCs). Decades of work have elucidated the …
Insertion-and-deletion-derived tumour-specific neoantigens and the immunogenic phenotype: a pan-cancer analysis
Background The focus of tumour-specific antigen analyses has been on single nucleotide
variants (SNVs), with the contribution of small insertions and deletions (indels) less well …
variants (SNVs), with the contribution of small insertions and deletions (indels) less well …