Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of ...

Neurofibromatosis type 2 is caused by a change in the NF2 gene located on chromosome 22. This gene encodes a protein known as merlin. Mutations in the NF2 gene disrupt the function of merlin, which is ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

The tiny little powerhouses of our cells, the mitochondria, are unique among organelles because they carry their own tiny ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

A new study suggests a gene mutation could have a protective effect against Alzheimer's. The research looked specifically at blood stem cells, which live in the bone marrow and make different types of ...