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 ...

Neurogeneticists have discovered a novel genetic mutation and associated buildup of toxic proteins in the brain -- a type of buildup distinct from amyloid or tau, proteins that have long been the ...

The ARX gene, which encodes a paired-type homeobox transcription factor, is crucial in forebrain development and interneuron specification. Mutations in ARX have been implicated in a spectrum of ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

Researchers are adding new evidence to the emerging concept that 'silent' or synonymous mutations may have crucial consequences. Their study showed how a synonymous mutation in one gene can ...

A rare form of diabetes is emerging in the very first weeks of life, reshaping how doctors think about blood sugar disorders ...

Human semen not only accumulates genetic mutations with age; as the percentage of sperm carrying potentially serious mutations increases, so does the risk of developing diseases in offspring. This is ...

Germ cell tumors (GCTs) are a heterogeneous group of neoplasms that predominantly affect adolescents and young adults. Notably, geographical disparities in GCT incidence exist, with higher rates ...

A rare genetic mutation that causes a deficiency in an immune regulator called ISG15 is known to make people more vulnerable to some bacterial infections and cause persistent inflammation — but it can ...

A review article led by researchers from the B·ARGO group at the Germans Trias i Pujol Research Institute (IGTP) and from the ...