SOX17 mutations are linked to severe pulmonary arterial hypertension often diagnosed in childhood, though some develop the ...

A rare but serious clotting disorder linked to certain COVID-19 vaccines and natural adenovirus infections has puzzled scientists for years.

Scientists have discovered the same genetic mutation in 11 types of West Nile- and malaria-spreading mosquitoes -- a mutation that may explain their growing immunity to insecticides. The findings ...

Flinders University researchers have discovered a rare genetic mutation that could explain why some people do not respond to ...

When the TREX1 gene is functioning normally, it produces a protein that helps maintain DNA in cells throughout the body. Mutations in the TREX1 gene are known to cause a rare and serious disease ...

A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...

A research group from the National Cancer Research Centre (CNIO) has found that an alteration in the POT1 gene prevents lung tissue from regenerating, which over time makes breathing difficult. A ...

Researchers have created the first complete map showing how hundreds of mutations in a key cancer gene affect tumor growth.

New research from UC Davis Comprehensive Cancer Center has uncovered an evolutionary change that may explain why certain immune cells in humans are less effective at fighting solid tumors compared to ...

A study led by Aaron Hobbs, Ph.D., and Rachel Burge, Ph.D., at MUSC Hollings Cancer Center, reveals why a specific gene mutation behaves differently from other variants. Subscribe to our newsletter ...