Alternative splicing as a source of phenotypic diversity

CJ Wright, CWJ Smith, CD Jiggins - Nature Reviews Genetics, 2022 - nature.com
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 …

Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature Reviews Genetics, 2023 - nature.com
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 …

A compendium of mutational cancer driver genes

F Martínez-Jiménez, F Muiños, I Sentís… - Nature Reviews …, 2020 - nature.com
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 …

Mutations and mechanisms of WNT pathway tumour suppressors in cancer

JM Bugter, N Fenderico, MM Maurice - Nature Reviews Cancer, 2021 - nature.com
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 …

Proteogenomic insights into the biology and treatment of HPV-negative head and neck squamous cell carcinoma

C Huang, L Chen, SR Savage, RV Eguez, Y Dou, Y Li… - Cancer cell, 2021 - cell.com
We present a proteogenomic study of 108 human papilloma virus (HPV)-negative head and
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 …

[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 …

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 …

To NMD or not to NMD: nonsense-mediated mRNA decay in cancer and other genetic diseases

F Supek, B Lehner, RGH Lindeboom - Trends in Genetics, 2021 - cell.com
The nonsense-mediated mRNA decay (NMD) pathway degrades some but not all mRNAs
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

S Turajlic, K Litchfield, H Xu, R Rosenthal… - The lancet …, 2017 - thelancet.com
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 …