Latest Mutation Stories
Scientists at Cold Spring Harbor Laboratory (CSHL) and Memorial Sloan-Kettering Cancer Center have amassed strong experimental evidence implying that commonly occurring large chromosomal deletions that are seen in many cancer types contain areas harboring multiple functionally linked genes whose loss, they posit, confers a survival advantage on growing tumors.
A research group from Ben-Gurion University of the Negev (BGU) and Soroka University Medical Center led by Prof. Ohad Birk has discovered genetic mutations that lead to intestinal blockages in newborns from two Bedouin tribes in Israel.
Vision and hearing are so crucial to our daily lives that any impairments usually become obvious to an affected person.
Researchers at the Centre for Addiction and Mental Health (CAMH) led a study discovering a gene for a new form of intellectual disability, as well as how it likely affects cognitive development by disrupting neuron functioning.
A team led by scientists at Cold Spring Harbor Laboratory (CSHL) publishes research today indicating a striking association between genes found disrupted in children with autism and genes that are targets of FMRP, the protein generated by the gene FMR1, whose dysfunction causes Fragile-X syndrome.
Just as banks store away only the most valuable possessions in the most secure safes, cells prioritize which genes they guard most closely, researchers at the European Molecular Biology Laboratory’s European Bioinformatics Institute (EMBL-EBI) have found.
Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition.
Evolutionary biologists at the University of Toronto have found that individuals with low-quality genes may produce offspring with even more inferior chromosomes, possibly leading to the extinction of certain species over generations.
Scientists have discovered a mutation limited to brain tissue that causes hemimegalencephaly (HMG), a condition where one half of the brain is enlarged and dysfunctional, leading to intellectual disability and severe epilepsy.
Researchers have turned up a new clue to the workings of a possible environmental factor in autism spectrum disorders (ASDs): fathers were four times more likely than mothers to transmit tiny, spontaneous mutations to their children with the disorders.
- Monstrous in size or character; huge; prodigious; monstrously perverse, savage, cruel, etc.