The SMARCA2 gene, which encodes BRM in the SWI/SNF chromatin-remodeling complex, was recently identified as being associated with schizophrenia (SZ) in a genome-wide approach. Polymorphisms in SMARCA2, associated with the disease, produce changes in the expression of the gene and/or in the encoded amino acid sequence. We show here that an SWI/SNF-centered network including the [...]
CHARGE syndrome is an autosomal dominant disorder caused in about two-third of cases by mutations in the CHD7 gene. For other genetic diseases e.g. hereditary spastic paraplegia, it was shown that interacting partners are involved in the underlying cause of the disease. These data encouraged us to search for CHD7 binding partners by a yeast [...]
Lafora disease (LD) is an autosomal recessive, progressive myoclonus epilepsy, which is characterized by the accumulation of polyglucosan inclusion bodies, called Lafora bodies, in the cytoplasm of cells in the central nervous system and in many other organs. However, it is unclear at the moment whether Lafora bodies are the cause of the disease, or [...]
It has been suggested that the higher susceptibility of Hispanics to metabolic disease is related to their Native American heritage. A frequent cholesterol transporter ABCA1 (ATP-binding cassette transporter A1) gene variant (R230C, rs9282541) apparently exclusive to Native American individuals was associated with low high-density lipoprotein cholesterol (HDL-C) levels, obesity and type 2 diabetes in Mexican [...]
Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs), additional risk modifiers for BRCA1 and BRCA2 may be identified from promising signals discovered in breast [...]
Kawasaki disease (KD; OMIM 611775) is an acute vasculitis syndrome which predominantly affects small- and medium-sized arteries of infants and children. Epidemiological data suggest that host genetics underlie the disease pathogenesis. Here we report that multiple variants in the caspase-3 gene (CASP3) that are in linkage disequilibrium confer susceptibility to KD in both Japanese and [...]
Genome-wide association studies have identified many common genetic variants that are associated with polygenic traits, and have typically been performed with individuals of recent European ancestry. In these populations, many common variants are tightly correlated, with the perfect or near-perfect proxies for the functional or true variant showing equivalent evidence of association, considerably limiting the [...]
Biliary atresia (BA) is characterized by the progressive fibrosclerosing obliteration of the extrahepatic biliary system during the first few weeks of life. Despite early diagnosis and prompt surgical intervention, the disease progresses to cirrhosis in many patients. The current theory for the pathogenesis of BA proposes that during the perinatal period, a still unknown exogenous [...]
Anti-aging compound appears to function in multiple ways.
Donations from the medical device industry are providing key funds to many orthopedic surgery programs. But are patients ending up with back, knee, and hip surgeries they don’t need? Surgery – Massachusetts General Hospital – Orthopedic surgery – Medicine – Mayo Clinic
Medical device industry donations keep many orthopedic surgery programs in the black. But are patients getting aggressive back, knee, and hip surgeries they don’t need? Surgery – Massachusetts General Hospital – Orthopedic surgery – Medicine – Mayo Clinic
There is little doubt that the search for the responsible genes in unifactorial neuromuscular disorders has been a phenomenal success. No less than 350 such disorders are currently listed in the Gene Table . Such information is of course essential for diagnosis, genetic counselling, prenatal diagnosis, attempts to understand pathogenesis and of course for new [...]
Seem to be involved with insulin-making cells, insulin performance, scientists say Source: HealthDay Related MedlinePlus Pages: Diabetes, Genes and Gene Therapy (Source: MedlinePlus Health News)
It turns out that not all the hairlike cilia projecting from the surfaces of many cells in the human body are equal–there are the myriad ones for sweeping, swimming and other functions, and then there is the until recently mysterious primary cilium. Nearly all human cells contain these numerous microscopic projections. The more abundant variety [...]
For the first time, scientists have succeeded in tracking the progression of reprogrammed stem cells through live imaging to learn more about how they are reprogrammed, and how the new cells evolve over time. This will allow researchers to develop techniques and choose the right cells for replacement therapy and give invaluable insight into how [...]
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Scientists from the University of Warwick and University Hospitals Coventry and Warwickshire NHS Trust, are the first to directly measure a specific region of DNA in human embryos. The length of this region could be a quality marker for embryonic development. Researchers at the University of Warwick’s Warwick Medical School and University Hospital, Coventry, have [...]
Researchers at the University of Leicester have demonstrated that movable sequences of DNA, which give rise to genetic variability and sometimes cause specific diseases, are far more common than previously thought. In a paper published in the leading journal Cell, Dr Richard Badge and his collaborators examined L1 (or LINE-1) retrotransposons: DNA sequences which can [...]
New research led by the University of Leicester and published in a prestigious international scientific journal has revealed for the first time the mechanism by which memories are formed. The study in the Department of Cell Physiology and Pharmacology found one of the key proteins involved in the process of memory and learning. The breakthrough [...]
Cancer occurs when human cells move and multiply inappropriately. Within cells, a process called phosphorylation serves as an on/off switch for a number of cellular processes that can be involved in cancer, including metabolism, transcription, configuration, movement, cell death and differentiation. This process is controlled by a group of enzymes called protein kinases that – [...]
