Nature

Cryptic mitochondrial DNA mutations coincide with mid-late life and are pathophysiologically informative in single cells across tissues and species

Diseases of later life represent a formidable human challenge 1. Existing hallmarks of ageing point to disparate but interconnected classes of causal factors leaving the search for unifying factors in ...
Nature

Aging alters genomic instability at endogenous mutation hotspots in mice

Aging is a critical risk factor for cancer development with genetic instability presenting as a common hallmark. Alternative DNA-forming sequences are endogenous sources of genetic instability that ...
News Medical

HiDEF-seq technique reveals the origins of DNA mutations in single strands

Mutations are changes in the molecular "letters" that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...
SiliconANGLE

DeepMind launches AlphaGenome to predict how DNA mutations affect genes

Alphabet Inc.’s Google DeepMind today introduced AlphaGenome, a new artificial intelligence tool that can comprehensively predict how mutations or variants in human DNA sequences impact gene ...
Science Daily

DNA damage can last unrepaired for years, changing our view of mutations

While most known types of DNA damage are fixed by our cells' in-house DNA repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that ...
Medical Xpress

Study uncovers mutations and DNA structures driving bladder cancer

How bladder cancer originates and progresses has been illuminated as never before in a study led by researchers at Weill Cornell Medicine and the New York Genome Center. The researchers found that ...
Labroots

A Mitochondrial DNA Mutation that Alters Immunity

Mitochondria are well known as the powerhouses of the cell because of their energy generating capabilities. These little organelles are very special, because they also carry their own tiny little ...
ascopubs.org

Synthetic Lethal Co-Mutations in DNA Damage Response Pathways Predict Response to Immunotherapy in Pan-Cancer

Despite the significance of immune checkpoint inhibitors (ICIs) in solid tumor treatment, identifying ICI-sensitive populations remains a challenge. Mutations in DNA damage response (DDR) pathway ...

CRISPR enzyme precisely detects and shreds DNA in cancer mutations once considered 'undruggable'

In 2020, Jennifer Doudna won the Nobel Prize in chemistry for her work on the CRISPR-Cas9 gene-editing technology that allows ...
Science Daily

This DNA repair gene went rogue and exposed a cancer weakness

Scientists have discovered that a gene normally considered a DNA-protecting "good guy" can become dangerous when cells make too much of it. The gene, EXO1, acts like molecular scissors that help ...
ascopubs.org

AlphaMissense for Identifying Pathogenic Missense Mutations in DNA Damage Repair Genes in Cancer

Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...