JCI table of contents June 1, 2005
...ersity of Muenster generated mice with a selective deletion of the ANP receptor, called GC-A, in endothelial cells in order to dissociate the endothelial functions of the ANP/GC-A system from other endocrine cardiovascular functions of the ANP/GC-A system. The endothelial functions of ANP were unknown. The a...JCI table of contents July 1, 2005
...he latter T cells are silenced in young animals by deletion in the thymus and by peripheral tolerance, but with age they can mature and cause disease. These studies of a spontaneous T-cell avidity maturation response advance our understanding of the progression of autoimmune diabetes. Title: Developmental c...JCI table of contents July 1, 2005
...BIOLOGY The brain is at the heart of a chromosomal deletion disorder Williams Syndrome (WS) is a disease caused by a chromosomal deletion and is characterized by several neural and behavioral abnormalities. There have been indications th...Researchers track down cause of a disfiguring bone disorder
...e strong evidence that "the (Van Buchem) noncoding deletion removes a SOST-specific regulatory element," the team reported, indicating that the disease is caused by the absence of one or more distant enhancer elements in the deleted region that help direct the expression of the SOST gene in adult humans. In a......f scientists provides convincing evidence that the deletion of a large non-coding DNA segment on human chromos...no avail. Recently, however, a large 52-kilobase deletion was identified at a significant distance approximately 35 kilobases from the SOST gene in humans...Imprinting disorders and ART world's largest study results are reassuring
... acquired because of either a maternal or paternal deletion on a chromosome or from inheritance of both chromosomes of a pair from one parent. "It has been known for some time that BWS, for example, was associated with ART", said Dr. Sutcliffe, "and we set out to look at the association of all four disorders...Defective sweet taste receptor gene shapes cat cuisine
...mino acid sequence of a given protein. We found a deletion of 247 base pairs in the gene that codes for T1R2 in the cat. As a consequence of this deletion, the stop point is shifted. The T1R2 protein is not made and thus is unavailable to join with T1R3 to form a working sweet taste receptor." "Our resu...Customized gene chip provides rapid detection of genetic changes in children's cancer
...t abnormality is loss of heterozygosity (LOH), the deletion of one copy of a pair of genes. When the gene involved is a tumor suppressor gene, LOH removes a brake on uncontrolled cell growth, the growth that is the hallmark of cancer. Researchers in Dr. Maris' laboratory previously established that LOH in a...... of pre-mRNA splicing. The researchers found that deletion of the yeast gene ISY1 reduces the efficiency of the first step of the splicing reaction and decreases 3'-splice site accuracy. Dr. Villa and Guthrie believe that Isy1p interacts with the ATPase Prp16p to regulate spliceosomal conformation, and there...Leptin-signaling protein maintains normal body weight and energy balance in mice
...rmal control mice. "These results demonstrate that deletion of the SH2-B gene causes severe leptin resistance, which appears to be the major factor responsible for obesity in our experimental mice," Rui says. In future research, Rui hopes to learn exactly how SH2-B modulates leptin sensitivity in deferent hy...Bacteria are key to 'green' plastics, drugs
... strains of E. coli and has been modified with the deletion of four genes, each of which codes for a protein that interferes with or limits E. coli's ability to turn glucose into succinate. Bennett and San activated a second pathway and stimulated production by adding genes from lactococcus bacteria and sorgh...JCI table of contents September 1, 2005
...nductance regulator (CFTR) cellular processing. A deletion in phenylalanine 508 is a mutation that disrupts the function of this cellular channel and causes cystic fibrosis. The authors screen 150,000 compounds using a cell-based functional assay, and test structural analogs of active compounds. Compounds w...Flipped, expelled, copied, and shrunk
...tions," says Dr. Mager, "and it lends insight into deletion mechanisms that help to counterbalance genome expa...ticity at the Williams-Beuren syndrome locus The deletion of a 1.5-megabase segment spanning at least 26 genes on human chromosome 7 causes Williams-Beuren sy...Big differences in duplicated DNA distinguish chimp and human genomes
...ng one-third of duplication differences are due to deletion of segments in one of the two species the segment is deleted from the genome, copy by copy, over time. The researchers found that many of the species-specific duplications have also caused differences in gene expression. Of the individual genes wit...New genome comparison finds chimps, humans very similar at DNA level
...llion sites that differ because of an insertion or deletion in one of the lineages, along with a much smaller number of chromosomal rearrangements. Most of these differences lie in what is believed to be DNA of little or no function. However, as many as 3 million of the differences may lie in crucial protein-......ot show any signs of psoriasis. It is the combined deletion of JunB and c-Jun, a closely related gene, that brings forth the typical symptoms of the disease in mice. The disease-prone animals which were generated at the IMP carry a double mutation which can be induced by tamoxifen. Further studies on the muta...Researchers to gain wider access to knockout mice
... objective data on the impact of the specific gene deletion on the mouse's phenotype, which includes appearance, health, fitness, behavior, ability to reproduce, and radiological and microscopic data. Such comprehensive information on such a large group of mice has never been available to public sector resear...JCI table of contents November, 2005
...authors demonstrate the atheroprotective effect of deletion of TLR2. With bone marrow transplant studies, they show cells not of bone marrow origin mediate this effect. With TLR2 agonist injections, the researchers observe a profound increase in lesion severity in these mice fed a high-fat diet. This effect i...Other highlights in the October 19 JNCI
...n Sydney, Australia, and colleagues screened yeast deletion strains to identify yeast genes that are necessary for GSAO resistance. They then used knowledge of the function of these yeast genes to investigate the mechanism of tumor cell resistance to GSAO. Contact: Dan Gaffney, University of New South Wales, ...Teens with deletion syndrome confirm gene's role in psychosis
...schizophrenia. Youth with this genetic chromosomal deletion syndrome already had a nearly 30-fold higher-than-...he gene version appeared to worsen symptoms of the deletion syndrome by chronically boosting the chemical messenger dopamine to excessive levels in the brain's ...