New genetic hypothesis for the cause of autism
...sm can be explained by a complex model for genetic malfunction that may or may not include an altered DNA sequence. Where the DNA sequence is intact, the researchers believe that gene expression could be faulty. They suggest that some of these genetic factors are inherited, and others occur de novo in genes of t...A genetic disorder yields insight into genes and cognition
...searchers sought to shed light on the neurological malfunction that underlies this inability. In particular, they sought to determine whether the functional disorder could reveal the "modularity" of the processing of visual information in the brain's visual cortex. The visual cortex is basically organized into t...University of Chicago scientists pinpoint cellular cause of SIDS
... pattern for babies, the scientists suspect that a malfunction in these respiratory pacemakers is the cellular mechanism that leads to SIDS. "This paper sets the groundwork for everything that has to do with breathing," says lead author Jan-Marino Ramirez, an associate professor of organismal biology and anatom...Motion that powers sperm provides key to unravelling rare genetic disorder
...lay in Bardet-Biedl syndrome, but it's clear their malfunction is linked to a number of health problems such as obesity, kidney disease, blindness and mental retardation." "The way some cilia work is akin to trying to surf a crowd at a concert. If everyone works together, supports you and pushes you in the same ...U of T researchers isolate gene for Crohn's disease
...to the cell. The ability to test for this protein malfunction will help physicians distinguish between Crohn's d...ajor form of inflammatory bowel disease known. The malfunction is not present in ulcerative colitis, so this gene alteration provides a diagnostic test to help dis...UIC researchers discover gene that causes liver cancer in animals
... which is stimulated by growth hormone, appears to malfunction in old age and in certain rare diseases that cause premature aging. It is one of a family of genes that controls the entire life cycle of a cell, including its proliferation, maturation and death. In the current study, scientists in Costa's lab used ...Scientists seek cause for what makes good cell go bad
...ntrolled by a signal transduction network, and its malfunction causes cancers." The network that controls the movement of E. coli, a single-celled organism, is much simpler than the system that divides human cells. But signal transduction networks exhibit the same design principles across species, Cluzel said. C...Gene variants may increase susceptibility to type 2 diabetes
... thus its downstream targets, leading to beta cell malfunction and diabetes." "The observations made by these groups mark a real leap forward in our understanding of the genetics of diabetes and may provide a blueprint for finding genes in other complex diseases," said Dr. Catherine McKeon of the National Instit...Immune system's attack dogs kept on genetic leash
...dentified in humans. He hopes to look for signs of malfunction in the gene in humans with lupus and other autoimmune disorders. "This may be relevant to other diseases beyond lupus," Peng says. "In diabetes, for example, it's known that T cells, one of the cell types affected by this gene, attack the pancreas. ......But if the function of prions is mysterious, their malfunction is notorious. "The prion protein," says Scripps Research investigator Anthony Williamson, Ph.D., "has a Jekyll and Hyde personality." A New View of Normal Prions Previously, scientists viewed the normal cellular prion protein as...Metastasis of colon cancer cells reversed in vitro
...ve behavior of colon cancer cells results from the malfunction of adhesion-related ("cell-gluing") mechanisms. Cells are held together by "adhesive molecules," including two key molecules called beta-catenin and E-cadherin, which are found near the surfaces of cells. Beta-catenin also has another function: when ...Early identification of kidney disease cost-effective only when directed at high-risk patients
...of protein in the urine an early marker of kidney malfunction and premature death should be limited to those with other risk factors and older Americans, a Johns Hopkins study indicates. "Given the relatively inexpensive and safe nature of urine testing for proteinuria, physicians might assume that frequent ...Scientists work to break cellular code
...el the precise choreography by which they work or malfunction together in the cell in response to triggers from the outside world. "There is a code we need to understand to determine what happens to a cell under many different conditions, and ultimately to make predictions of how an entire genome is regulated...Sick Kids scientists identify gene for most severe form of adolescent epilepsy
...is, however, the fundamental defect triggering the malfunction was unknown. In 1998, the HSC team identified the first gene implicated in Lafora disease, called EPM2A. "While the discovery of the EPM2A gene has led to the development of diagnostics and a better understanding of the fundamental defect causing sei...UCLA researcher first to solve structure of membrane transport protein
...diabetes, stroke and depression, which involve the malfunction of membrane transport proteins....Researchers identify new cause of genomic instability
...ed. The researchers also saw cancers arising from malfunction of DNA repair in mature immune cells called B cells. "These kinds of tumors are much more relevant to what goes on in a very large percentage of lymphomas in humans, and adults, in particular," said Alt. Alt said that the biggest surprise came when ...Researchers identify key molecular signal in plant pollination
...ent was lacking in the pop2 -mutants, because the malfunction of the enzyme that breaks down GABA produces a massive increase in the chemical signal. Also, in vitro experiments revealed that pollen required GABA to stimulate growth of pollen tubes. Finally, the researchers conducted studies of various crossbr...Male sex hormones cooperate with breast cancer gene to suppress tumors
... gene may work, and how mutant forms of BRCA-2 may malfunction and therefore likely contribute to the development of breast cancer. It also gives greater insight into the causes of male breast cancer. BRCA-2 is one of two genes (the other is BRCA-1) linked to at least 10 percent of all breast cancers; the mutant...Gene defect produces lupus-like disorder
... researchers have discovered a new type of genetic malfunction that causes an autoimmune disease in mice that res...ctively involved in a quality-control pathway, its malfunction might contribute to lupus by allowing defective ribonucleoproteins to be made by cells, she said. If...... membrane structure is changed because of the wax2 malfunction of the WAX2 gene, the protective wax within the cuticle membrane is displaced, affecting transpiration. Transpiration is how plants emit waste matter though their leaf surfaces. "It's likely that the cuticle meshwork is disrupted so the wax molecules...