Researchers discover a large number of clustered mutations in a single gene, TRIO, that disrupt the development of the brain's connections and likely contribute to the development of autism-spectrum disorders. The scientists also find that a sister gene linked to schizophrenia, KALRN, is inactive in early brain development, but becomes active in adolescence.
When it comes to male reproductive fertility, timing is everything. Now scientists are finding new details on how disruption of this timing may contribute to male infertility or congenital illness. Researchers at Cincinnati Children's Hospital Medical Center report in Genes & Development identifying the key molecular and genetic switch that activates production of healthy male sperm -- but only when the time is right.
New research suggests that a simple genetic test could be used to identify multiple sclerosis patients at risk of developing progressive forms of the disease. Researchers are already developing a medication.
To provide a vital scientific foundation for conservation efforts, an international team has conducted a genetic analysis comparing queen conch at 19 sites throughout the Caribbean. Their findings, published Sept. 19 in the journal Diversity and Distributions, will help scientists understand how local subpopulations of conch are fragmented throughout the Caribbean, an essential first step needed to develop effective science-driven management plans and practices.
A single species gave rise to 220 more and two distinct lineages of oaks -- red oaks and white oaks -- that moved through the boreal zone to populate large swaths of the continent all the way into Mexico. These two findings -- simultaneous evolutionary diversification in the red and white oaks, each following the same geographic routes; and two relatively recent origins of the Mexican oaks -- are a surprise conclusion to a scientific mystery.
Researchers used gene transfer to block the expression of one of the two main enzymes that break down alcohol in the liver, leading to the accumulation in liver cells of acetaldehyde, a metabolic byproduct of ethanol.
New Haven, Conn. -- Scientists have uncovered two closely related cytokines -- molecules involved in cell communication and movement -- that may explain why some people develop progressive multiple sclerosis (MS), the most severe form of the disease. The findings, authored by researchers at Yale University, Ohio Health & Science University, and the University of California point the way toward developing a novel treatment to prevent progressive forms of the disease.
A team led by University of Iowa researchers has identified a gene linked to rare kidney-related birth defects. When working properly, a gene called GREB1L activates a cascade of signals that ultimately tells other genes what they need to do to create a kidney. Results published in the journal Genetics.
Salk researchers discover how oxygen-deprived tumors survive body's immune response.
Scientists at have taken an important step toward gene therapy for deaf patients by developing a way to better study a large protein essential for hearing and finding a truncated version of it.