Speeding the search for elusive chromosomal errors
...e all of a patient's chromosomes to identify small defects that cause genetic diseases. Because currently use...ital problems, such as developmental delays, heart defects and facial abnormalities, have gone undiagnosed because they may not have an easily recognizable syn...'Cellular antennae' on algae give clues to how human cells receive signals
...lia published in the May 5 issue of Cell. Genetic defects in cilia can cause people to develop debilitating kidney disease or to be born with learning disabilities, extra fingers or toes, or the inability to smell. But no one really knows how cilia work, or, in some parts of the body, what their function i...Gut reaction: Researchers define the colon's genome
...ce or presence of beneficial microbes, can trigger defects in metabolism and development of diseases such as inflammatory bowel disease." As in studies of other animals, the scientists began by collecting droppings. They collected fecal samples from two anonymous, healthy adults who'd gone without antibiot...Embryo tests give parents the choice
...ere performed to identify embryos at risk of birth defects or being miscarried. However, the survey also revealed that applications of PGD have broadened to include choosing the baby's sex, as well as screening for diseases that may not strike until late in life, if at all. Non-medical sex selection account...Solvent exposure linked to birth defects in babies of male painters
...g their unborn children at increased risk of birth defects and low birth weight. A study of construction wo...Edmonton, Canada, links low birth weight and birth defects to paternal, airborne exposure to organic solvents such as paints, thinner and cleansers. The stud...When nerve cells can't make contact
...d, with few exceptions, nobody knows which genetic defects are present in the abundance of other autism patients. ...UNC scientists solve mystery of how largest cellular motor protein powers movement
...raction with a particular regulator protein causes defects in nerve cell transmission and mimics the symptoms of people with amyotrophic lateral sclerosis (ALS). ...Age-related changes in DNA repair illuminate the connection between age and genetic damage
...line of evidence supporting the connection is that defects in certain genes needed for DNA repair produce maladies that mimic those of accelerated aging. In humans and other mammals, these effects include elevated occurrence of malignancies, osteoporosis, hearing loss, graying of hair, and hair loss. It is a...Insulin receptor stops progression of Alzheimer's disease
...y administering PPAR, they were able to bypass the defects in insulin signaling and preserve the cells that need insulin to thrive. PPAR molecules go directly to the nucleus of cells and tell DNA to turn on or off genes that are normally regulated by insulin, thus preventing them from dying and allowing them...Researchers discover new gene responsible for brittle bone disease
...national research team in the analysis of skeletal defects caused by lack of effective function in the newly ...make either too little or weak collagen because of defects or mutations in one of the collagen genes, of which there are more than 20. The current study found ...Getting to the heart of the heart
...e to regenerate tissues to repair congenital heart defects in children and damage caused by heart attacks in ... use cardiac stem cells to repair congenital heart defects such as defective heart valves, missing or undeveloped arteries, or underdeveloped heart chambers. ...Critical hearing gene helps send auditory messages to brain
...rvous system," Petit said. While outer hair cell defects can lead to considerable hearing loss, she added, ...ey suggest that people who are deaf as a result of defects in otoferlin "will benefit from cochlear implants," the researchers said. Cochlear implants analyze ...Autoimmune disease triggered if T cells miss a single protein early on
...linking gene knockouts in the thymus to autoimmune defects in body tissues. The study, however, did not link a specific organ autoimmune attack with a specific protein missing in the thymus. In the new study, the researchers carried out a detailed analysis of the autoimmune attack that is directed against ...Proteins anchor memories in our brain
...linking gene knockouts in the thymus to autoimmune defects in body tissues. The study, however, did not link a specific organ autoimmune attack with a specific protein missing in the thymus. In the new study, the researchers carried out a detailed analysis of the autoimmune attack that is directed against ...How brain injury leads to seizures, memory problems
...to be an underlying reason for seizures and memory defects experienced by people who have suffered a traumatic brain injury (TBI). "A traumatic brain injury occurs to someone in the United States every 23 seconds," said study team leader Akiva S. Cohen, Ph.D., of The Children's Hospital of Philadelphia, add...Cellular traffic backups implicated in skeletal malformations
...nticulo-Sutural Dysplasia) with strikingly similar defects to the crusher fish. Although CLSD is a rare syn...ogies of the skeleton, some of which might involve defects in this protein trafficking pathway. Knapik's model may provide insights into these disorders. "...Researchers create genetically matched embryonic stem cells for transplantation
... customized embryonic stem cells to repair genetic defects in mice. But somatic cell nuclear transfer (sometimes called therapeutic cloning) is a technically demanding and inefficient process that involves transferring the nucleus of a donor cell into an egg from which the nucleus has been removed. "We wi...Two central mysteries in genome inheritance solved at UCSD
...ors in genome distribution result in genetic birth defects and contribute to the genesis of cancer. Accurate distribution of the genome, which is split into chromosomes of varying number depending on the species, requires specialized protein polymers called microtubules. "After the genome is replicat......erly in egg cells, also is thought to be caused by defects in kinesins. Finding methods to stimulate kinesin activity might help in the treatment of these human diseases, the researchers said. Conversely, drugs that inhibit kinesin activity might be a potential approach to slowing the uncontrolled cell divi...