Abstract DNA base damage is a major source of oncogenic mutations1. Such damage can produce strand-phased mutation patterns and multiallelic variation through the process of
Editor’s summary Mutations in the KRAS gene are one of the most frequent oncogenic events in human cancer. Drugs that inhibit KRAS have recently been
Summary The first step of oncogenesis is the acquisition of a repertoire of genetic mutations to initiate and sustain the malignancy. An important example of this initiation phase
Abstract Mirror movements (MM) disorder is characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side. We
Dynamic changes in human genomes Postzygotic mutations accrue throughout a person’s lifetime, beginning in utero. Despite their pervasiveness, the impact of these mutations on health
Abstract DNA topoisomerase II (TOP2) is an enzyme that resolves DNA topological problems and plays critical roles in various nuclear processes. Recently, a heterozygous H58Y
Another brick in the wall against herpes A wide variety of host immune defenses are mobilized to contain human infection with the HSV-1 herpesvirus. Herpes
Abstract Purpose: Large-scale sequencing efforts have established that cancer-associated genetic alterations are highly diverse, posing a challenge to the identification of variants that regulate complex
First off the COVID block The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has been characterized by waves of transmission initiated by new variants
Gene interactions and global fitness The effect of a particular mutation in a given environment often varies systematically with the fitness of the genetic background
Abstract Mutations in the putative glutamatergic synapse scaffolding protein SAP97 are associated with the development of schizophrenia in humans. However, the role of SAP97 in
Highlights •p300 acetylates BRAF at K601 to promote BRAF kinase activity •Deacetylation of BRAF by SIRT1 decreases BRAF kinase activity •BRAF-K601 acetylation modulates the interaction
Abstract Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is not always confined to the respiratory system, as it impacts people on a broad clinical
Abstract Ionizing radiation causes DNA damage and is a mainstay for cancer treatment, but understanding of its genomic impact is limited. We analyzed mutational spectra
Abstract A key driver of patients’ well-being and clinical trials for Parkinson’s disease (PD) is the course that the disease takes over time (progression and
Abstract Identification and quantification of low-frequency mutations remain challenging despite improvements in the baseline error rate of next-generation sequencing technologies. Here, we describe a method,
Abstract Developing safe and efficient non-viral delivery systems remains a major challenge for in vivo applications of gene therapy, especially in cystic fibrosis. Unlike conventional
Highlights •First synonymous BAP1 mutation that leads to exon skipping and loss of function •Exon 11 skipping is a hotspot for BAP1 inactivation •First synonymous mutation reported
Serum samples from 20 individuals who received the Pfizer-BioNTech vaccine against SARS-CoV-2 thwarted a version of the coronavirus with the so-called N501Y mutation, according to
The mitogen-activated protein kinase (MAPK) pathway is an important bridge in the switch from extracellular signals to intracellular responses. Overactivation of the MAPK pathway is
When COVID-19 spread around the globe this year, David Montefiori wondered how the deadly virus behind the pandemic might be changing as it passed from
How a cancer evolves and how mutations are generated are highly intertwined processes, and both are nearly impossible to observe directly. Instead, we are usually
Understanding how normal tissues give rise to cancer is crucial for improving prevention and early detection of this deadly disease. Over the past two decades,
Models of acquired drug resistance Models of resistance mechanisms to epidermal growth factor receptor (EGFR) inhibitors in colorectal cancer include preexisting resistance, drug-induced mutagenesis, and
When I visited Ricaurte, Colombia, in 2016, I was surrounded by men with long faces and prominent ears. As we spoke, they would ask repetitive
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