Researchers find first gene for inherited testicular cancer in mice
...l tumors. "Dead end is the earliest acting genetic defect that leads to these tumors," said Joseph Nadeau, P...iversity School of Medicine. "Interestingly, this defect causes these mice to develop tumors during fetal development. The mutation in the dead end gene incr...Researchers find genetic link to cerebral hemorrhage and porencephaly
...rrhage. An international team discovered a genetic defect that weakens blood vessels in the brain, making an infant much more vulnerable to hemorrhaging. The team was led by Dr. Douglas Gould a postdoctoral fellow at The Jackson Laboratory and Jackson Laboratory Staff Scientist and Howard Hughes Medical Ins...Tendency to hair loss inherited from the mother
...her's side rather than their father. However, this defect is not simply caused by one gene: "We have indicat...arents' sex," Prof. Nthen stresses. The hereditary defect can therefore sometimes also be passed on directly from father to son.Bald men wanted In order to id...UCSD research reveals mechanism involved with type of fatal epilepsy
...tients. Thus, researchers have long thought that a defect in glycogen metabolism is intimately linked to the disease. Recessive mutations in two genes have been shown to cause Lafora disease. The genes encode the proteins laforin and malin, but the molecular mechanism defining how loss of laforin or malin c...Study finds research participants concerned about genetic discrimination
...verload or hereditary hemochromatosis (a metabolic defect causing accumulation of too much iron, leading to organ damage and other serious health problems), and all were told that they were being tested to see if they had too much iron in their blood or carried the genes for hereditary hemochromatosis. The...Harmful chemicals may reprogram gene response to estrogen
...e researchers used a special strain of rats with a defect in a gene called Tsc-2 (tuberous sclerosis complex... factors. A 2003 study of Jewish women born with a defect in BRCA1, the gene that is linked to inherited forms of breast and ovarian cancer, showed that those...JCI table of contents July 1, 2005
...OMMENTARY: TITLE: Harlequin ichthyosis unmasked: a defect of lipid transport AUTHOR CONTACT: Alain Hovnanian Purpan Hospital, INSERM Toulouse, France Phone: 33-561-158-432; Fax: 33-561-499-036; E-mail: alain.hovnanian@toulouse.inserm.fr View the PDF of this article at: https://www.the-jci.org/article.ph...Researchers discover gene that determines asthma susceptibility by regulating inflammation
...ext generation of asthma drugs. Suspecting that a defect in antioxidant response exacerbates asthma severity, the team of researchers began looking into the genetic factors that might contribute to this deficiency. In 2002, Biswal's lab discovered Nrf2 acts as a master regulator of the majority of antioxid...New research bolsters highly targeted gastro-intestinal cancer treatment
... growth factors can bind, but GIST cells contain a defect in one of these receptors, the KIT receptor. The defective KIT receptor gives a continuous signal to the cancer cells to multiply, enabling the cancer cells to grow irrespective of the presence of the growth factors. However, the drug Glivec works by......as myasthenia gravis, a common disorder in which a defect in nerve impulse transmission results in muscle weakness. In this and other neurological diseases, "there may be an anomaly at the receptor level, but it is impossible to pinpoint the problem with existing techniques. With our modeling technique, we ...Mutations in NOTCH1 gene cause aortic valve disease
... causes aortic valve disease, a common heart birth defect as well as a major contributor to adult heart dise... "Mutations in NOTCH1 cause an early developmental defect in the aortic valve," Dr. Garg said. The aortic valve is located between the left ventricle, or low...Defective sweet taste receptor gene shapes cat cuisine
...ltham Centre for Pet Nutrition, UK, report that a defect in a gene that codes for part of the mammalian swe...brary of Science) Genetics, the researchers show a defect in the gene encoding the T1R2 protein in domestic cats. The Monell researchers also detected the s...Motoring proteins and genetic disease
A defect in the mechanics of motors that build tiny cellular hairs is the basis of a serious genetic disorder, according to researchers at UC Davis and Simon Fraser University, Canada. Bardet-Biedl syndrome (BBS), affecting about one in 100,000 births, includ...JCI Table of contents August 1, 2005
... their model, introduction of ZAP-70 corrected the defect in thymocyte maturation and T cells in the periphery were functional and polyclonal. This work is the first demonstration of an in vivo therapy allowing specific genetic modulation of mature T lymphocytes. This has important implications, not only...Understanding Fragile X syndrome with the blink of an eye
While researchers have long known the genetic defect underlying Fragile X syndrome, they are still tracing how that defect creates the complex mix of mental retardation, hyperactive behavior, attention deficits, and other p...Protein linked to growth of organs and cancer
...searchers report, which suggests that in humans, a defect in the gene that makes YAP might contribute to cancer. "Over the past few decades, science has identified a few so-called oncogenes, whose protein products act as accelerators and trigger abnormal cell growth," said Duojia Pan, Ph.D., who carried ou...Joslin researchers discover new gene for type 2 diabetes using DNA chips
...hers then went on to show that when they created a defect in one of these genes called ARNT in mice, the mic... 2 diabetes, the genetic defects of this beta-cell defect remain unknown. The research was supported by funding from the Mary K. Iacocca Professorship and th...Type 2 diabetes: Problems in the furnace
...tes problem. Their new data also suggest the basic defect lies within the mitochondria, which exist in almos...stant participants. This also points to a dramatic defect in insulin signaling and may explain the observed abnormalities in insulin-stimulated power producti...Researchers discover new route to hemoglobin synthesis
...rrent study, the researchers traced the hemoglobin defect to the gene for an enzyme known as glutaredoxin 5 (grx5). But the researchers found early on that the enzyme was not directly connected to hemoglobin production. "Nobody had worked on this gene in vertebrates before, but we found in the scientific li...Mouse model of Rett Syndrome displays reduced cortical activity
...s appear. "It's important to note that since this defect is seen so early it suggests that the reduced cortical activity may be a primary cellular defect that may lead to other neuropathologies," shared Qiang Chang, co-first author on the paper. Future ...