UCSF study offers insight into human circadian rhythms
...elated to circadian rhythms. The gene was found on chromosome 17. (The mutated form was compared to the gene in family members who did not have FASPS.) Next, they determined that, in a test tube, the activity of the enzyme (CK1 delta) encoded by the mutated gene was decreased. Finally, to explore the effect of ...Gene for age-related macular degeneration discovered by Yale researchers
...-related macular degeneration (AMD) on a region of chromosome 1, leading the way for targeted treatment for this... a substance known as complement factor H (CFH) on chromosome 1 is associated with AMD. "This is the first study to identify a common variant of the specific ge...Mouse gene shows new mechanism behind cardiac infarction in man
...panese research group, have scrutinised an area on chromosome 1 that is of demonstrable importance to the development of arteriosclerosis. The TNFSF4 gene was identified as the one responsible, as mice with mutations in this gene displayed a lower degree of atherosclerosis, while mice with more active variants ...Columbia researchers receive $3 million to combat genetic killer of infants & toddlers
...ients. He is interested in how information in the chromosome is converted into messenger RNA to produce the SMN protein and is trying to understand the defect in that process that results in SMA disease. Thomas Jessell, Ph.D., Investigator at the Howard Hughes Medical Institute and Director of the Neuroscience...Vaccine may complement conventional treatment for chronic leukaemia
...chromosomes 9 and 22, which results in a shortened chromosome called the Philadelphia chromosome. Cells with the abnormal chromosome make a protein that encourages aberrant growth and division. Patients with CML can be treated with a...Mothers' exposure to air pollutants linked to chromosome damage in babies
...gnated as having "high exposure." "We observed 4.7 chromosome abnormalities per thousand white blood cells in newborns from mothers in the low exposure group, and 7.2 abnormalities per thousand white blood cells in newborns from the high exposure mothers," said Perera. "In particular, stable alterations were in...Newly identified gene cluster on mouse X chromosome provides insights into fertility
...ter have discovered a cluster of 12 genes on the X chromosome in mice that appears to play an important role in ...nd two versions of mouse Rhox genes on the human X chromosome - they are both expressed in human testes. "Little is known about the causes of human infertility, a...Leukemia drug breakthrough study in New England Journal of Medicine
... this study, 91 percent of the MDS patients with a chromosome abnormality named 5q minus syndrome became transfusion independent. The defective 5q chromosome abnormality may be linked to other serious cancers, including leukemias and small cell lung cancer. ...Gender bias in child growth evaluations may miss disease in girls
...ong them, hormone deficiencies, Turner syndrome (a chromosome abnormality found only in females), and gastrointestinal conditions such as celiac disease or inflammatory bowel disease. "Many of these diseases have better outcomes when they are treated early, so a delayed diagnosis can have serious medical conseq...USC researchers find evidence that progesterone signaling influences ovarian cancer risk
...GINS allele. (A haplotype is a set of alleles on a chromosome that are closely linked together, and which are usually passed down as a single unit.) In fact, the two haplotypes-dubbed simply 4-D and 4-E-were found to raise ovarian cancer risk by almost 3.5-fold in women who carry two copies of either haplotype,...Research in yeast yields missing link in DNA maintenance machinery
...ther chromosomes. Many types of cancer result from chromosome fusions." The scientists created an experimental ...NA repair and what the protein complex does to the chromosome structure at the double strand break. "We have introduced a whole new player that has never been se...Researchers describe how human blood stem cells transform themselves to repair injured animal hearts
...nd then they stained the cells so that the human X chromosome would show up in one color, and the mouse X chromosome would be highlighted in a different hue. The majority (73 percent) of HLA-positive myocytes contain...Novel drugs help solve Gleevec resistance
...genetic material in bone marrow stem cells between chromosome 9 and 22, producing an abnormality called the Philadelphia chromosome (named for the city from where the first patient in whom it was seen resided). Specifically, a fusi...Long-term benefits for newly diagnosed patients with CML receiving first-line therapy with imatinib
..., lasting for at least four weeks; however, the Ph chromosome positive (Ph+) cells may still be present. In McyR...less than 35% of cells containing the Philadelphia chromosome (the genetic abnormality that characterizes most cases of CML) are detected. In CcyR, Ph+ cells rema...Stem cells to the rescue - or not?
...nt cardiac and skeletal muscle (evidenced by the Y chromosome from male donor cells present within the recipient female muscle), these donor cells were only able to restore sarcoglycan expression in 2 muscle fibers. This finding demonstrates that BM-SP stem cells can produce delta -sarcoglycan but do so at a ne...Spina bifida: 70% of cases preventable by folic-acid supplementation
... The causes of this disorder are varied, including chromosome abnormalities and gene disorders. The cause is not known in most cases. Laura Mitchell (The Texas A&M University System Health Science Center, USA) and colleagues highlight how up to 70% of spina bifida cases can be prevented by maternal folic acid ...Mutations in a multifunctional protein cause parkinsonism
...this form of inherited parkinsonism to a region of chromosome 12 called PARK8. Mayo Clinic neuroscientist Matthew Farrer, Ph.D., and his team, continued to perform sophisticated genetic analyses on DNA collected from family members. Their work revealed the culprit gene and the multifunctional protein that i...Improved acute lymphoblastic leukemia treatment offers hope for eliminating irradiation
...on in their leukemic cells called the Philadelphia chromosome were considered lower risk. The classification system used in Study XIIIB, a revision of the one used in Study XIIIA, improved investigators' ability to identify patients who should get more intensive post-remission treatment to increase the chance ......Tyrosine Phosphatase N1) and is found on the human chromosome 20, which has long been targeted by investigators ... technologies to work through the entire region of chromosome 20, "genotyped hundreds of markers," and found the different forms of PTPN1. Besides Bowden, Bento ...Newly-described route to cancer solves a mystery in lung cancer
...ical Center, the investigators found that parts of chromosome 3p (a region known as 3p21.3) are often missing in lung cells at the very beginning of cancer development. "One of two inherited copies of this chromosomal region is missing and we speculate this is a fragile site that breaks easily in response to ex...