Tag: dna tests
AVIA 3.0: Interactive Portal for Genomic Variant and Sample Level Analysis
Motivation: The Annotation, Visualization and Impression Evaluation (AVIA) is an online utility combining a number of options to annotate and visualize genomic variant information. Customers can examine practical significance of their genetic alterations throughout samples, genes, and pathways. Model 3.Zero of AVIA presents filtering choices by way of interactive charts and by linking illness related information sources. Newly […]
In vivo MRS measurement of 2-hydroxyglutarate in patient-derived IDH-mutant xenograft mouse models versus glioma patients.
To produce a preclinical model isocitrate dehydrogenase (IDH) of the mutant glioma glioma patients and devise methods to test the compatibility MRS 2-hydroxyglutarate production (2HG) between preclinical models and patients. Five patient-derived xenograft (PDX) rat glioma generated from two patients with IDH1 R132H mutation. A sequence PRESS adjusted at 9.4 T, with a phantom computer […]
Evidence for distinct forms of compulsivity in the SAPAP3 mutant-mouse model for obsessive-compulsive disorder.
Specific mechanisms underlying the compulsive behaviors of obsessive-compulsive disorder (OCD) is unknown. It has been suggested that these compulsivity may have its origin in cognitive dysfunction such as impaired information processing feedback – received after completion of goal-directed action. Signal attenuation (SA) models such task processing deficits in animals by weakening the strength of the […]
Micturition defects and altered bladder function in the klotho mutant mouse model of aging
Introduction and objectives: Symptoms associated with detrusor underactivity (DU) or an underactive bladder (UAB) can greatly affect a person’s quality of life and growing old is a major etiologic factor DU and UAB. Klotho gene has been associated with suppression several phenotypes of aging, and there is a moderate klotho expression in the bladder. Considering […]
Metabolic insights from a GHSR-A203E mutant mouse model.
Ghrelin binding to its receptor, growth hormone secretagogue receptor (GHSR) stimulates GH release, induce eating, and increase blood glucose. This process can also be influenced by the constitutive activity of GHSR (ghrelin-independent), as suggested by the findings of short stature in people with naturally occurring mutations GHSR-A204E and reduces food intake and blood glucose in […]
The Jeff Mouse Mutant Model for Chronic Otitis Media Manifests Gain-of-Function as Well as Loss-of-Function Effects
Chronic otitis media (OM) is the most common cause of hearing loss worldwide, but the underlying genetic and molecular pathology are poorly understood. Jeff mutant mouse is a mouse model for OM identified a single gene on the screen deaf as part of an ENU mutagenesis program at MRC Harwell. Jeff brings a missense mutation […]