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 ...

AIP (Aryl Hydrocarbon Receptor Interacting Protein) is the name of the gene which causes pituitary adenomas in some families with acromegaly and occasionally prolactinomas, and very rarely with other ...

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 ...

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the ...

Scientists have made a rare discovery that allows them to attribute two types of tumour almost entirely to specific mutations that lie in two related genes. These mutations are found in nearly 100 per ...

Despite progress in defining functional elements of noncoding DNA, it is still not fully understood. Researchers, using an experiment that elucidated the function of tens of thousands of noncoding ...