Deletion in Medical News

Does 1q31.1-32.1 harbor a tumor suppressor gene related to Chinese SCC patients?

... has become an effective way to find allelic deletion regions and then to find candidate tumor ... tumor suppressor gene(s). However, the allelic deletion region contained so many genes that it was ... and found a minimal region of frequent deletion located within a 2-cM genomic segment at ...

St. Jude Discovery Offers New Avenues to Understanding an Aggressive Form of Leukemia

... of cancer. The most common change was deletion of the gene for Ikaros. The gene was deleted ... whom also had lost the gene for Ikaros. The PAX5 deletion occurred in 51 percent of the BCR-ABL1 ... converted to ALL, two out of three had the deletion of the Ikaros gene; a lower percentage of those ...

St. Jude discovery offers new avenues to understanding an aggressive form of leukemia

... as "cooperating oncogenic lesions," include the deletion of a gene, IKZF1, whose protein, Ikaros, normally ... progression of cancer. The most common change was deletion of the gene for Ikaros. The gene was deleted ... whom also had lost the gene for Ikaros. The PAX5 deletion occurred in 51 percent of the BCR-ABL1 ALL ...

New Map of Genomic Variation Will Enable Disease Research

... three unique CNVs were relatively small in size, but the third CNV was a deletion in chromosome 17 that encompassed 51 genes, including several that are ... child's parents, strongly supporting the conclusion that the chromosome deletion arose spontaneously in the patient and that it caused the child's disease. ...

Gene Studies Reveal Cancer's Secrets

... in 10 percent of these patients. The mutations were associated with a deletion of the genes IKZF1 and CDKN2A/B and poor outcome. And, over four years, 71 ... looked at the number of copies of the UGT2B7 gene and found that although deletion patterns for UGT2B17 and UGT2B28 genes were between 3.4 percent and 19.9, ...

Researchers identify mechanism, possible drug treatment for tumors in neurofibromatosis

... experiments. Previously, Dr. Parada had shown that mice with a targeted deletion of the NF1 gene in their Schwann cells and an NF1+/- genetic background develop plexiform neurofibromas, while mice with the same targeted deletion and an NF1+/+ genetic makeup do not develop the tumors. Drs. Parada and ...

Study raises questions about prostate cancer therapies targeting IGF-1

... compromised. The results were as predicted: Prostate epithelial-specific deletion of IGF-1R facilitated the emergence of aggressive prostate cancer in the ... mechanism, according to the authors. Title of the paper is Conditional deletion of insulin-like growth factor-1 receptor in prostate epithelium. If our ...

'Innocent bystanders' can be the cause of tumor development

... that encircle the epithelium, researcher Pekka Katajisto discovered that deletion of the tumor suppressor gene Lkb1 leads to excessive proliferation of ... cells and tumor development. The results demonstrate that Lkb1 deletion in smooth muscle cells disturbes the signaling between cells. Normally the ...

JCI table of contents: Oct. 18, 2007

... at: https://www.the-jci.org/article.php?id=30727 UROLOGY: deletion of the transient receptor potential cation channel TRPV4 impairs bladder ... development of therapeutics to treat human bladder disorders. TITLE: deletion of the transient receptor potential cation channel TRPV4 impairs murine ...

DMP1 deletion cooperates with oncogenic K-ras in lung cancer

... a study designed to investigate the collaborative effects of Dmp1 deletion and K-ras activation in the genesis and progression of lung cancer. ... K-rasLA mice, lung carcinomas were associated with either p53 mutations or deletion of Dmp1 to inactivate the Arf-p53 pathway. Consistent with this finding, ...

Eliminating Cell Receptor Prevents Infections in Animal Study

... and Melissa D. Sanchez, D.V.M., Ph.D., of the University of Pennsylvania School of Veterinary Medicine. Kallewaard et al, "Tissue-specific deletion of the coxsackievirus and adenovirus receptor (CAR) protects mice from virus-induced pancreatitis and myocarditis," Cell Host and Microbe , ...

Air Methods Petitions NTSB for Reconsideration of Probable Cause Determination

... on approach to the helipad". Specifically, Air Methods' petition seeks the following of the NTSB [Board]: Reconsideration and deletion of the Board's finding that a contributing cause in the accident was "the failure of Air Methods' pilot to follow arrival and noise abatement ...

Process controlling T cell growth and production identified

... of T cells extracted from patients to heighten immune response", said Lacorazza. "In addition, a future line of study is to determine whether deletion of KLF4 expands pre-leukemic clones leading to overt leukemia in pediatric patients". Lacorazza said these are still hypotheses, but ...

Computer Administrator Pleads Guilty to Hacking Former Employer's Computer System

... computer network. LifeGift suffered damage and losses in excess of $94,200 as a result of Duann's computer intrusion and intentional, unauthorized deletion of programs and files. Duann is scheduled to be sentenced by Judge Hittner on July 28, 2009. She faces a maximum punishment of 10 years in ...

New target for maintaining healthy blood pressure discovered

... assessed the impact of the PG F2-alpha receptor mutations on both blood pressure and RAAS activity. They found that under a variety of circumstances deletion of the PG F2-alpha receptor lowered blood pressure coincident with suppression of RAAS activity. "Precisely how these two observations are ...

Study IDs Variations in Black, White Genomes

... in 45 percent of the 435 whites in the study and in 8 percent of the 435 blacks. This region has been implicated in mental retardation caused by the deletion of two genes due to duplication. The two genes aren't located within the 17q21 region, but are very close to it, the researchers said. "It would ...

Cell pathway on overdrive prevents cancer response to dietary restriction

... and tumor size was smaller in the DR group. This research was confirmed in two mouse models of cancer, one with prostate cancer caused by PTEN deletion and one with lung cancer and a functioning PTEN gene. Again, the mice without the PTEN gene did not respond to dietary restriction, but the mice ...

Protein helps immune cells to divide and conquer

... said, adding that this proved the protein was essential to expanding the number of immune cells, a necessary step in the immune response. While deletion of the protein didn't impair early B cell activation, it did inhibit later activation of elements along the signaling pathway that push the cell ...

TB breakthrough could lead to stronger vaccine

... BCG antigens to enter pathways leading to improved immunization," Hunter said. "In addition, Dr. Jagannath had previously demonstrated that genetic deletion of the fpbA gene has similar effects." Rapamycin is a drug used to fight cancer and inflammation. In 1992, the Organ Transplantation Center at ...

60 Million Worldwide Carry Heart Disease Mutation

... the DNA of about 800 patients at cardiac centers in India. The study was published in the Jan. 18 issue of Nature Genetics . The mutation, a deletion of 25 letters of genetic code from the heart protein gene MYBPC3, was discovered five years ago in two Indian families with a history of ...

LOH analysis on 4q in sporadic colorectal carcinoma

... great deal of evidence supported the presence of TSGs in the short arm of chromosome 4. Much less studies have been reported in colorectal cancer. By deletion dense markers mapping, they detected two obvious high frequency LOH regions (4q12-21.1 and 4q25-31.1). PTPN13 (4q21.3), Caspase3 (4q34) and caspase6 ...

Protein 'switch' suppresses skin cancer development

... in preventing skin cancer, as well as the mechanism of how IKKα acts in these processes," Hu said. "We will further investigate how IKKα deletion targets a single cancer initiation cell, which will provide new avenues to treat cancer." ...

The first autism disease genes

... encoding neurexin, which is a tightly linked protein to neuroligin, implicated in synapse formation for glutamate neurons. This revealed a hemizygous deletion of coding exon for neurexin gene for a pair of affected siblings. Accumulating evidence thus points out that neurexin/neuroligin/Shank3 (NLGN3/4, ...

Scientists identify another piece of the weight-control puzzle

... energy balance regulation," explains Qingchun Tong, PhD, a postdoctoral fellow in the Lowell laboratory and the study's first author. "However, the deletion of AgRP and NPY [two neuropeptides released from the AgRP neurons] produces little metabolic effect." An alternate theory proposed that release ...

Turned-off cannabinoid receptor turns on colorectal tumor growth

... the methyl groups, restoring gene expression in 7 of 8 cell lines and full expression of CB1 protein in three lines. Next, the group found that deletion of the CB1 gene in a strain of mice that spontaneously develops precancerous polyps resulted in a 2.5-to-3.8-fold increase in the number of polyps ...

Also in the June 24 JNCI

... 1p36.31. Garrett Brodeur, M.D., of the Children's Hospital of Philadelphia and colleagues previously identified the smallest region spanned by the deletion in more than 1,200 patient tumors and found that 23 genes were located within the region. In the current study, Brodeur and colleagues examined ...

New Roche Chlamydia Test Approved for Use in European Union

... "Because it is impossible to predict when these mutations will occur, we have designed this test to detect all Chlamydia strains that may cause a deletion in the cryptic plasmid, including the variant originally detected in Sweden in 2006." Chlamydia trachomatis is often referred to as a "silent" ...

CSHL scientists trace causal link between a tumor suppressor gene and liver cancer

... the promotion of liver cancer. Specifically, the team demonstrated that RhoA is required for maintaining the tumor-formation process stimulated by deletion of the DLC1 gene. "This suggests an opportunity for molecularly targeted therapies," Dr. Lowe said. "For a variety of reasons, tumor ...

UCLA researchers identify leukemia stem cells

... this case, we were able to find those alterations. The alterations found that collaboratively contribute to leukemia stem cell formation were the deletion of the PTEN tumor suppressor gene, a chromosomal translocation involving c-myc, a gene known to result in cancer that is usually regulated and kept ...

Families shed light on likely causative gene for Alzheimer's

... pairs that form the rungs of the ladder-like DNA, Dr. Poduslo says. An SNP represents a change in either side of a rung. "The mutation could be a deletion of some of the nucleotides, could be an insertion, or something in the promoter gene that turns the gene off so it's never transcribed. It could be a ...

Potential viral therapy weapon for difficult cancers is safe and effective in study

... its ability to damage targeted cancer cells. The rRp450 virus is different because it retains both copies of the virulence gene but is attenuated by deletion of a different gene. Earlier preclinical studies showed that deleting just the single gene increases rRp450s ability to degrade cancer cells, but ...

JCI online early table of contents: April 8, 2008

... T cells contributes to the inability of these cells to persist and clear virus in individuals chronically infected with HBV. TITLE: Bim-mediated deletion of antigen-specific CD8+ T cells in patients unable to control HBV infection AUTHOR CONTACT: Mala K. Maini University College London, ...

Data-handling technique finds genes to be team players in curbing brain cancer cell growth

... growth of normal glial cells in check, Chin states. When p16 goes out of commission, p18 is signaled to pick up the slack. We demonstrated that the deletion of both genes is required for glioblastoma to develop. The feedback loop is the latest evidence that cancer gene pathways are not as ...

Schizophrenia Tied to Multiple Genetic Errors

... than healthy individuals did. "We found they had a lot more," McClellan said. "So there was about a threefold increased risk of having a rare deletion or duplication in someone with schizophrenia versus healthy people." For those who developed schizophrenia early in life, there was a fourfold ...

Scripps Florida scientists develop a process to disrupt hepatitis C virion production

... that an early event in virus assembly had been affected. Using genetic mapping and biochemical analyses, the authors were able to show that their deletion altered a phosphorylation signal controlling the switch from RNA replication to virus particle assembly. This signal was attributed to the activity ...

Investigational drug tested for preventing muscle fiber death in muscular dystrophy

... Debio-025 for use in the study. The researchers also found their study may have implications beyond skeletal muscle disease as cyclophilin D deletion reduced cardiac dysfunction caused by calcium-overload induced necrosis. This led the team to suggest that mitochondrial-dependent necrosis may also ...

Sticky blood protein yields clues to autism

... Center for Molecular Neuroscience. This took us to platelets. In platelets, SERTs accumulate serotonin produced in the gut. SSRIs or genetic deletion of SERT in animals prevents serotonin uptake in the platelet. Prior research had fingered the integrin beta3 gene as a determinant of blood ...

Researchers find possible target to treat deadly bloodstream infections

... Samant discovered that 19 E. coli mutants out of more than 4,000 she tested could not grow in blood. The majority of the mutants carried a deletion of a gene involved in making nucleotides, the building blocks of DNA and RNA. The result suggested that the biosynthesis nucleotides is crucial ...

Researchers create first chikungunya animal model

... for severe disease with neurological manifestations, which are mainly observed among newborns and the elderly. The CHIKV animal model carries a deletion of a gene encoding one of the key proteins in the innate antiviral immune response. When only one of the two copies of the gene is deleted, the mice ...

Peptide discovered in scorpion venom may hold key to secretory diseases

... with one or more amino acids deleted, and consequently misfolded. In the most common CFTR mutation leading to cystic fibrosis, the location of the deletion causes the chaperone proteins which are responsible for quality assurance within cells to bind to the misfolded proteins and discard them from the ...