Researchers have identified a new mutation that leads to the cardiac disease arrhythmogenic cardiomyopathy (ACM). They assessed the effect of this mutation on heart muscle cells and obtained new ...

Researchers show how mutations of gene transcription and chromatin regulation-related genes cause autism. The loss-of-function mutation of KMT2C, a gene involved in histone modification, leads to the ...

Scientists have uncovered a surprising overlap between cancer genetics and Alzheimer’s disease, involving mutations in the ...

Inherited mutations in the gene BRCA2 significantly increase the risk of carriers to breast and ovarian cancers. BRCA2, a crucial player in the body's DNA repair system, aids in repairing damaged DNA.

UC Davis researchers have found that body temperature determines whether TRPM4 gene mutations cause skin or heart disease. Mutations activate differently in cooler skin versus warmer heart tissue, ...

Researchers have developed a new technology called tARC-seq that revealed a genetic mechanism affecting SARS-CoV-2 divergence and enabled the team to calculate SARS-CoV-2's mutation rate. Using ...

Researchers published a new study, “Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution,” in Cell that they say solves the mystery of what drives the genomic ...

Characterization of T-cell receptor repertoire and correlation with tumor mutational landscape in lung cancer. Pharmacokinetics and biomarker analysis from a phase 1/2 open-label study of the ...

Scientists studying animals at high altitudes discovered a previously unknown mechanism that is key for regulating myelin ...

Treatment with the investigational next-generation KRAS-G12C inhibitor elisrasib led to clinical benefit in patients with ...