The first results from a nationwide project to study the genetic causes of rare developmental disorders have revealed 12 causative genes that were unidentified before. The Deciphering Developmental Disorders (DDD) project, the world's largest, nationwide genome-wide diagnostic sequencing programme, sequenced DNA and compared the clinical characteristics of over a thousand children to find the genes responsible for conditions that include intellectual disabilities and congenital heart defects, among others.
Body
Scientists have taken microscopic images revealing that the protein ties tethering cells together are severed in lung cancer cells - meaning they can break loose and spread, according to research published in Cell Reports* today (Wednesday).
The researchers at the Cancer Research UK Manchester Institute discovered that the ties which lash cells together - controlled by a protein called TIAM1 - are chopped up when cell maintenance work goes wrong.
By mimicking the red and green colors of falling leaves, Bornean lizards avoid falling prey to birds while gliding, new research has found.
The work suggests that populations of the gliding lizard, Draco cornutus, have evolved extendable gliding membranes, like wings, which closely match the colors of falling leaves to disguise themselves as they glide between trees in the rainforest.
Found throughout South-East Asia, Draco is the only living genus of lizard with extendable gliding membranes - call patagia - which allow them to glide between trees in their territories.
A three-year clinical trial suggests that a novel pre-operative drug therapy reduces antibodies in kidney patients with greater success than with traditional methods, with the potential to increase the patients' candidacy for kidney transplantation and decrease the likelihood of organ rejection.
The study, titled "Prospective Iterative Trail of Proteasome Inhibitor-Based Desensitization," appears in the January 2015 edition of the American Journal of Transplantation.
Previous studies of hair loss have identified signals from the skin that help prompt new phases of hair growth. However, how different types of cells that reside in the skin communicate to activate hair growth has continued to puzzle biologists. A new study reveals a new way to spur hair growth.
Patients who were obese before developing heart failure lived longer than normal weight patients with the same condition according to a new study in the Journal of the American College of Cardiology that examined the "obesity paradox" by following obese and non-obese heart failure patients for more than a decade.
Famine, drug abuse and even stress can "silence" certain genes, causing health problems in generations to come. Scientists have been pursuing therapies that change gene expression in parents in order to help their children. A new study from scientists at The Scripps Research Institute (TSRI) suggests this is possible. The research showed that the offspring of mice treated with a drug also had delayed onset and reduced symptoms of Huntington's disease, an inherited, degenerative disease that causes a loss of motor skills, cognitive impairment and death.
Cells have finger-like projections called filopodia that they use to feel their surroundings. They can detect the chemical environment and they can 'feel' their physical surroundings using ultrasensitive sensors. New research from the Niels Bohr Institute shows how the finger-like structures can extend themselves, contract and bend in dynamic movements.
Sensory hair cell loss is the major cause of hearing loss and balance disorders and the postnatal mammalian inner ear harbors progenitor cells which have the potential for hair cell regeneration - and hearing recovery - but the mechanisms that control their proliferation and hair cell regeneration are yet to be determined.
New research shows that modern human skeletons evolved into their lightly built form only relatively recently--after the start of the Holocene about 12,000 years ago and even more recently in some human populations. The work, based on high-resolution imaging of bone joints from modern humans and chimpanzees as well as from fossils of extinct human species shows that for millions of years extinct humans had high bone density until a dramatic decrease in recent modern humans.
Paleontologists have documented the evolutionary adaptations necessary for ancient lobe-finned fish to transform pectoral fins used underwater into strong, bony structures, such as those of Tiktaalik roseae. This enabled these emerging tetrapods, animals with limbs, to crawl in shallow water or on land. But evolutionary biologists have wondered why the modern structure called the autopod--comprising wrists and fingers or ankles and toes--has no obvious morphological counterpart in the fins of living fishes.
A new study of over 17,000 Israelis has found that long-term exposure to the threat of terrorism can elevate resting heart rates and increase their risk of dying - and if even Israelis are not immune to the physical effects of terrorism by now, you can imagine the effect it has no the rest of the world. This is the first statistics-based study, and the largest of its kind, which indicates that fear induced by consistent exposure to the threat of terror can lead to negative health consequences and increase the risk of mortality.
Results of a small study show that hospitalized children given high-dose IV infusions of the antibiotic vancomycin to treat drug-resistant bacterial infections face an increased risk for kidney damage -- an often reversible but sometimes serious complication.
The findings published in Annals of Pharmacotherapy highlight the importance of prescribing the medication cautiously, the investigators say, and also underscore the need for newer, safer drugs to treat resistant infections.
The combination of the common antibiotic clarithromycin with some statins increases the risk of adverse events, which may require hospital admission for older people, according to a new study published in CMAJ (Canadian Medical Association Journal).
Statins, used to lower cholesterol, are one of the most widely prescribed drugs, with projections estimated at more than 1 billion people around the globe. Although uncommon, severe adverse events can occur in some patients when certain medications interact with the statin and affect the way it is metabolized.
The health effects of air pollution are a major concern for urban populations all over the world. Children, the elderly, and people with impaired respiratory systems (such as asthmatics) tend to be especially sensitive to the impact of exposure to ozone, nitrogen dioxide, sulphur dioxide, and particulate matter.