JCI table of contents September 15, 2004
...l cause of lethal neonatal mitochondrial complex I deficiency AUTHOR CONTACT: David R. Thorburn Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Rd, Parkville, Victoria 3052, Australia Phone: 613-8341-6235; Fax: 613-8341-6212; E-mail: david.thorburn@mcri.edu.au View the PDF of this...Breaking new ground in germ cell guidance
...o associate with the gonadal mesoderm. The genetic deficiency responsible for the defect was identified as a maternal effect mutation, meaning that its function (or loss of function) relies entirely on transmission by the mother fly. A closer analysis of the failing pole cells indicated that they began their de...Probing the surface of white blood cells to enhance immune system medicine
...drich syndrome protein (WASP) -- the protein whose deficiency leads to the syndrome. This challenges the long-held view that an absence of WASP led to the inability to form microvilli on lymphocytes. The study represents the first quantitative characterization of lymphocyte microvilli and, in addition to c...OHSU-VAMC study sheds light on estrogen's benefit for MS
...AE). Autoimmune disease has been associated with a deficiency of FoxP3, whose expression is a reliable indicator of the regulatory T cells' function and development. "This is the first report that this single, benign compound estrogen can increase regulatory cells," said study co-author Halina Offner, Ph.D.,...UCSD biologists develop 'super-endurance' strain of mice
...ically observed in humans with phosphofructokinase deficiency and McArdle's disease. These individuals, who have an impaired ability to generate energy through anaerobic metabolism and suffer a high degree of muscle damage following exercise, also have a pronounced "second wind," the researchers state in their ...Study suggests cell-cycle triggers might be cancer drug targets
...only abnormality in the triple knockout mice was a deficiency of blood-forming cells, causing them to be pale and anemic, and was ultimately fatal. But the Dana-Farber researchers can't yet say if this would create problems for an anti-cyclin cancer therapy in patients. "It's not known whether D cyclins are req...JCI table of contents, 16 August, 2004
...e this particular form of immune surveillance. The deficiency in the ability to activate natural killer cells could be overcome in tissue culture by stimulating the cells with the cytokine IL-2 or IL-15. The authors further investigated how soluble MIC level in serum related to prostate-specific antigen (PSA); ...MICs shed light on prostate cancer
...e this particular form of immune surveillance. The deficiency in the ability to activate natural killer cells could be overcome in tissue culture by stimulating the cells with the cytokine IL-2 or IL-15. The authors further investigated how soluble MIC level in serum related to prostate-specific antigen (PSA); ...Joslin Diabetes Center launches research section on developmental and stem cell biology
...man diseases (including leukemia, lymphoma, immune deficiency and others). Transplantation of blood-forming stem cells may also be used someday to help people with diabetes, either by aiding in blocking the autoimmune process that causes type 1 diabetes, or by allowing patients to better tolerate islet transpl...Scientist who discovered Sly syndrome finds new research path to explore for treating the disease
... resulting in death - to mild. It is caused by the deficiency of an enzyme called beta-glucuronidase, which leads to an accumulation of protein-sugar molecules known as mucopolysaccharides in many of the body's organs, including the brain. Enzyme replacement therapy - injecting the missing enzyme into the body ...8 environmental stewards win $900,000 in biodiversity awards
...in their own country. She has sought to cure that deficiency in a variety of ways. She plans to use the great bulk of her award to reward others with "Filipino Conservationist Awards," that would that would assist persons "who have demonstrated an extraordinary commitment to conservation at the local level." ...'Smart gene therapy' protects against damage from heart attack
...contains both DNA sequences that can detect oxygen deficiency and a therapeutic human gene -- heme-oxygenase 1 -- that has been shown to protect cells. They then inserted the gene construct into a harmless virus known as adeno-associated virus, whose job was to transport the therapeutic gene into the genetic ma...Researchers develop better understanding of immune response to viral infection
...eron levels, other cell types compensated for this deficiency by secreting cytokines that ensured an efficient activation of NK cells and substantial control of MCMV infection. "In this study, we demonstrate that TLR9 recognizes MCMV in IPC and DC and that TLR9/MyD88 mediates a coordinate cytokine secretion by ...Only 21 states offer newborn screening tests recommended by March of Dimes
...ademy of Pediatrics also advise a test for hearing deficiency for all newborns. Newborn screening is done by testing a few drops of blood, usually from a newborn's heel, before hospital discharge. If a result is positive, the infant will usually be re-tested and given treatment as soon as possible, before becom...To understand innate immunity, silence the genome
...ing systems. Specifically they examined the Immune deficiency (Imd) pathway. Bacterial pathogens stimulate a transmembrane receptor, which activates the Imd protein, which then transmits the signal through intermediary proteins into the nucleus, to activate genes required for an immune response. Although this...JCI table of contents, 15 June 2004
...ing both diseases. TITLE: Hepatocyte-specific Pten deficiency results in steatohepatitis and hepatocellular carcinomas AUTHOR CONTACT: Akira Suzuki Akita University School of Medicine, Akita, Japan. Phone: +81-18-884-6077; Fax: +81-18-884-6077; E-mail: suzuki@med.akita-u.ac.jp View the PDF of this article at:...Loss of circadian genes results in epilepsy
...er is quick to point out that "Although vitamin B6 deficiency has been known to provoke epilepsies in humans and laboratory rodents, PDXK misregulation has never been discovered thus far." Indeed, the researchers found that Pdxk expression is regulated by the PAR bZip transcription factors in both the ...Gene therapy with growth factor seems promising therapy for incurable muscle disorder ALS
...n, stimulating new blood vessel growth, and so the deficiency of oxygen declines. VEGF also helps nerve cells to survive in stressful circumstances. Last year the work of Peter Carmeliet's team indicated that people who produce an insufficient amount of VEGF because of certain variations in the gene coding for......earning. "This is the first direct evidence that a deficiency in the CREB gene is associated with anxiety and alcohol-drinking behaviors," said Subhash Pandey, associate professor of psychiatry and director of neuroscience alcoholism research at the UIC College of Medicine. When CREB is activated, it regulates ......tter's potency. Parkinson's disease is caused by a deficiency of nerve cells that produce dopamine. A parallel study by Parkinson center researchers found that paroxetine, a popular antidepressant best known under the brand name Paxil, doesn't augment the effects of levodopa and has little benefit in reducing p...