Phenotype in Medical News

Genome-wide association study on Parkinson's disease finds public home at NIH

... on genotype (an individuals genetic makeup), and phenotype (observable traits and characteristics). The ... such as protocols and summaries of genotype and phenotype data. The controlled-access portion of the ... to download individual-level genotype and phenotype data from which the study participants personal ...

Brain tumor treatment may increase number of cancer stem-like cells

... population" (SP) cells from mouse and human glioblastomas. "Because the SP phenotype in glioma cancer stem-like cells is mainly mediated by ABCG2, as shown by the almost complete abolition of this phenotype when ABCG2 activity is blocked, we subsequently studied the oncogenic ...

Hodgkin lymphoma -- new characteristics discovered

... a considerable part of the B cell-specific gene expression pattern. The phenotype and the characteristics of Hodgkin lymphoma cells are therefore unique. ... Hodgkin/Reed-Sternberg (HRS) cells of Hodgkin lymphoma (HL) exhibit a phenotype and characteristics that are considerably altered. Although HRS cells are ...

Chest Journal: August news briefs

... that people who are obese with asthma may carry a specific trait or phenotype that causes them to have poorer asthma control than people who are not ... function changes suggest that obese patients may have a different phenotype of asthma. This study is published in the August issue of the journal ...

Monogram Biosciences Collaborates with Gilead Sciences for Elvitegravir Phase III Studies

... conjunction with Elvitegravir during the study. Both Monogram's Integrase phenotype and genotype assays were used in Elvitegravir preclinical and Phase II ... development. PhenoSense GT(TM) is the only assay combining actual phenotype and genotype drug results in a single report. PhenoSense GT also includes ...

JCI online early table of contents: Jan. 10 2008

... genes, which make proteins that manifest the contractile phenotype of SMCs. As elimination of myocardin in SMCs isolated from the main blood ... that myocardin has a central role in maintaining the SMC contractile phenotype and that this probably explains, in part, the development of PDA in the ...

A new take on growth factor signaling in tamoxifen resistance

... ER+ breast cancer subtype. We propose that activation of GF signaling contributes to this highly proliferative, relatively tamoxifen-insensitive, phenotype and that this exists independently of HER2 overexpression. Targeting this pathway and its upstream mediators could prove to be a useful therapeutic ...

Importance of preventing congestion in heart failure

... responses, and highlight the importance of preventing congestion. Further investigation is needed to clarify whether the venous endothelial phenotype in unique individuals may ultimately allow us to track the vascular impact of subsequent environmental (i.e. biomechanical and biochemical) ...

Findings in Epilepsy Gene in Animals May Guide Treatment Directions for Infants

... funding support for this study. Marsh et al, "Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females," Brain , published online May 12, 2009. About The Children's Hospital of Philadelphia: The Children's Hospital of ...

Biodesix Advances the Field of Personalized Medicine With the Launch of VeriStrat(R)

... patient's disease. VeriStrat represents a unique advance in the field and is one of the first tests that analyzes proteins instead of genes, or the phenotype instead of the genotype. Using break-through technology to analyze a simple blood sample, VeriStrat classifies patients with different profiles ...

Wayne State University and Children's Hospital of Michigan Research Team Discover Chemical That Plays a Major Role in Pediatric Obsessive-Compulsive Disorder

... the team's study of pediatric OCD patients is the first published report examining the relationship between genetic variation and a neurochemical phenotype in OCD. This study found that there is a significant association between variation in a key glutamate receptor gene and glutamate levels in the ...

Gene Explains How High-Fructose Diets Lead to Insulin Resistance

... fructose intake and metabolic disorders." "The findings ... support the emerging role of gene/environment interaction in modulating the metabolic phenotype and disease pathogenesis. Thus, perturbations of the same regulatory motif may produce vastly different metabolic responses, depending on the ...

Avon Foundation Convened Breast Cancer Experts in Miami to Address Prevention Strategies at Annual Forum

... water, cigarette smoke and charcoal broiled foods. Her research identified that green tea (EGCG) helps prevent the PAH carcinogen-induced invasive phenotype of breast cancer cells, making her work one of the most detailed molecular characterizations of how green tea may be an effective risk-reduction ...

Fibroblasts invade at a snail's pace

... in mesenchymal tissue surrounding tumors and wounds. Because Snail1 expression is thought to be required for maintenance of the mesenchymal phenotype in cancer, Rowe et al. were surprised to see that normal fibroblasts retained many mesenchymal characteristics when Snail1 was removed. The authors ...

Experimental Biology 2009 meets April 18-22

... Research. The American Society for Nutrition dedicates its Presidential Symposium to the emerging field of epigenetics, the study of changes in phenotype caused by mechanisms other than changes in the underlying DNA sequence. Do dietary changes in one's parents influence health and disease in ...

Genetic interactions are the key to understanding complex traits

... into context, there are about 85,000 SNP differences between the two strains of yeast, and by moving just four of them, we effectively reversed the phenotype of the two strains," Cohen says. The researchers also exchanged every combination of the four SNPs between the yeast strains to determine how the ...

IPA 7 Introduces Unique Contextual Search and Analysis Capabilities

... functions, chemicals, and disease of interest. For example, a CNS researcher can run an analysis and identify molecular interactions and gene to phenotype associations that have specifically been demonstrated in CNS tissues or cell lines -- effectively narrowing the hypothesis space to those most ...

NO help: Nitric oxide monitoring does not help most children with asthma

... University of Otago, in New Zealand, pointed out in separate editorial, "FENO measurements shed complementary light on the underlying inflammatory phenotype and, more importantly, on the potential response to anti-inflammatory treatment. Historically, this has been assessed either by empiric "trials of ...

Studies on Smoking Genes and Transcriptional Control of Chronic Fatigue Syndrome Revealed in Molecular Medicine

... who never smoked. Other researchers have also found similar patterns in genome-wide association studies with cigarettes and other drugs of abuse - a phenotype of substance dependence. The authors did not find genetic linkage in social smokers (people who smoked at low and steady levels but who were ...

A new light on tumor immunotherapy for gastric cancer

... These cells were cultured with cytokines GM-CSF, IL-4, and TNF-alpha to induce their maturation. They were analysed by morphological observation, phenotype analysis, and mixed lymphocyte reaction (MLR). BM-DCs were pulsed with tumor cell lysate obtained by rapid freezing and thawing at a 1:3 DC:tumor ...

Also in the Nov. 11 JNCI

... are expressed in several malignancies, including ovarian cancers. To determine if LPA and its receptors directly contribute to the oncogenic phenotype in ovarian tumors, Gordon Mills, M.D., Ph.D., of the University of Texas M. D. Anderson Cancer Center in Houston and colleagues engineered human ...

Repligen Reports Second Quarter Fiscal Year 2009 Financial Results

... inhibitors improved disease symptoms in a transgenic animal model of the disease. The study, entitled "The HDAC Inhibitor 4b Ameliorates the Disease phenotype and Transcriptional Abnormalities in Huntington's Disease Transgenic Mice" was published in the Proceedings of the National Academy of Sciences. ...

Maternal obesity can program fetal brain to induce adult-onset obesity

... rats during the suckling period, which induces permanent changes at the molecular level in our rat model," Patel said. "The HC (high carbohydrate) phenotype is maintained for life and is spontaneously transmitted to succeeding generations." Unlike many models investigating the role of maternal obesity ...

Study Ties Herpes Virus to Emerging Form of Diabetes

... those with non-ketotic DM-2 and 40 percent of the control participants. "Our preliminary study shows a strong link between ketosis-prone DM-2 phenotype and markers of HHV-8 infection," the authors wrote. "Patients with ketosis-prone DM-2 have a very high prevalence of HHV-8 infection, whereas ...

Children with Down Syndrome sleep poorly and have more fragmented sleep

... more stage 1 sleep, and less REM sleep, said Dr. Phillips, adding that this sleep pattern may emerge during childhood and may reflect a developmental phenotype in this pediatric population. Poor sleep quality and decreased amounts of REM sleep may further impair cognitive, behavioral, and physical growth, ...

Genetic mutation linked to walking on all 4s

... for the condition in four different families. "In families A and D there were mutations in VLDLR on chromosome 9, and in family B the phenotype maps to chromosome 17 to a region that contains at least 157 genes, and we are still looking for the precise mutation. Neither region appears to be ...

Mapping of prostate cancer genes opens the door to new treatments

... cells. The cells renew themselves, are highly invasive, and have a longer lifetime than normal stem cells. They also feature a primitive epithelial phenotype and can differentiate to recapitulate phenotypes seen in prostate tumors. The cells are found in all stages and types of prostate cancer. ...

Scientists Explore Human Gene Pool With Help From Microsoft Research

... even smaller studies in which subjects are selected from a larger population, will require innovative means to extract a reliable, useful phenotype from electronic health records data. Hripcsak proposes to develop advanced informatics methods to convert raw health records data into ...

MicroRNAs, EMT and cancer progression

... team led by Dr. Marcus Peter (University of Chicago) identifies the microRNA miR-200 as both a powerful indicator and regulator of the epithelial phenotype of cancer cells. EMT (the epithelial-to-mesenchymal transition) is the conversion of an epithelial cell into a mesenchymal cell. Morphologically, ...

MRI: A window to genetic properties of brain tumors

... based on MRI scans alone, said Kuo. We were also able to link the MRI with a group of genes that appear to be involved in tumor cell invasiona phenotype associated with a reduced rate of patient survival. Laboratory work that relies on tissue samples is routinely used to diagnose and guide ...

A protein that triggers aggressive breast cancer

... tumors, which depends on SATB1's reprogramming of the gene expression profile," Kohwi-Shigematsu says. "What results is a new and aggressive cancer phenotype that promotes both tumor growth and metastasis." The discovery of SATB1's key part in aggressive breast cancer has profound implications for ...

Scripps research scientists find new genetic mutation that halts the development of lupus

... functional alterations in T cells, including reduced migration, survival, and activation. The study also showed that the Lmb3 autoimmune-suppressing phenotype could be transmitted only through Coro1aLmb3 T cells. The fact that its action appears to be somewhat specific for T cells is unusual, Kono said. ...

Other highlights in the Jan. 8 JNCI

... weeks old. Treatment with the drug rapamycin reduced kidney size and increased survival time. Because BHD-targeted mice develop a striking kidney phenotype over a very short time, this model may be useful for the development and testing of new therapies or drugswith which to treat BHD patients and ...

EpiCept Releases New Data Demonstrating Prolonged Five-Year Leukemia-Free Survival for AML Patients Treated with Ceplene(TM) + IL-2

... mononuclear phagocytes, Ceplene synergized with IL-2 in promoting cell cycle proliferation. Based on these findings, researchers concluded that the phenotype of T-cells with spontaneous reactivity against AML blasts is highly sensitive to oxidants and that by inhibiting oxygen radical formation, Ceplene ...

Flip-flopping gene expression can be advantageous

... different, but genetically identical. Only one of the two phenotypes might thrive in a given environmental condition; however, the less advantageous phenotype could come in handy if the environmental conditions unexpectedly changed. By having both phenotypes, the chances would be better that the best one ...

JCI table of contents: Nov. 21, 2007

... in the retina (the thin layer of neural cells that lines the back of the eyeball) and that this causes additional visual deficits. TITLE: Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders AUTHOR CONTACT: ...

Biomarkers predict risk for invasive breast cancer years before the tumor develops

... indicative of a short-circuited response to cellular stress predicts DCIS with a worse outcome and is a defining characteristic of an aggressive phenotype called basal-like tumors. Conversely, a disease-free prognosis is associated with an intact response to cellular stress. Mechanistic studies ...

The structural basis of familial hypertrophic cardiomyopathy is revealed

... sarcomere affects ability of the heart to function properly and may lead to compensatory hypertrophy in cardiac muscle tissue, which is a trademark phenotype of FHC. This study allows for a better understanding of the origination of FHC at the molecular level, which may open doors for the development of ...

Ninety-one Percent of BARACLUDE(R) (entecavir) Treated Patients in a Four-Year Cohort Demonstrated Virologic Suppression to Undetectable Levels

... Patients with HBV DNA levels of greater than or equal to 300 copies/mL at weeks 48, 96, 144, 192, or at the end of dosing were genotyped and a phenotype was determined for all novel emerging substitutions. All patients experiencing a virologic breakthrough (greater than or equal to 1 log(10) increase ...

USC granted $8.4 million for autism research

... autism and to explore the differences in their genetic profiles. We are trying to establish a correspondence between gene and phenotype, with the phenotype being autism and its many manifestations, Lehner said. A unique feature of this grant is the extensiveness of phenotyping. This is one of our largest ...