Gain and loss of function assays to validate the role of miR-143 in young (6 mo) and old (30 mo) rat SVF derived cells, post-adipogenesis.Jia FeiHolly TamskiCarla CookNalini Santanam
FUS loss-of-function and toxic gain-of-function mechanisms have been proposed to explain how mutant FUS leads to motor neuron degeneration, but neither has been firmly established in the pathogenesis of ALS. Here we characterize a series of transgenic FUS mouse lines that manifest progressive, ...
The most powerful approach for studying gene function in an intact animal is to regulate the levels of the gene product and thereby see gains-of-function or losses-of-function. The occasional...DOI: 10.1385/1-59259-046-2:149 被引量: 46 年份...
This study emphasizes the regulatory function of the 3'-UTR intron. In addition, we also studied the genomic loss and show that "in-frame" deletion of 12 nucleotides led to loss of amino acids IHDF resulting in the generation of a prepro-processing site in BmGlv2. As a result, the ...
However, this mutation causes increased levels of ACOX1 protein and function resulting in elevated levels of reactive oxygen species in glia in flies and murine Schwann cells. ACOX1 (p.N237S) patients exhibit a severe loss of Schwann cells and neurons. However, treatment of flies and primary ...
loss-of-function and gain-of-function James Yi-Hsin Chan1,2, Ying-Chuan Chen3, Shu-Ting Liu3, Wei-Yuan Chou3*, Ching-Liang Ho4* and Shih-Ming Huang3* Abstract Background: p53 is a major tumor suppressor that is inactivated in over 50% of human cancer types through either mutation ...
Ioannis Zaganas1, Georgia Xiromerisiou2, George M Hadjigeorgiou5 and Cleanthe Spanaki1 Parkinson's disease (PD), a common neurodegenerative disorder characterized by progressive loss of dopaminergic neurons and their terminations in the basal ganglia, is thought to be related to genetic and environme...
gloverin paralogs that lacked intronV were independent of chorion factor 2 regulation and expressed in embryo. These results suggest that change in cis-regulation because of intron loss resulted in embryonic expression of Bmglv2-4, a gain of function over Bmglv1. Studies on the significance of...
Peptide mediated gain-of-toxic function is central to pathology in Alzheimer’s, Parkinson’s and diabetes. In each system, self-assembly into oligomers is observed and can also result in poration of artificial membranes. Structural requirements for pora
These variants impair ligand binding and G protein-dependent signalling in cells. Transgenic mice harbouring a loss of function GPR10 variant found in an individual with obesity, gain excessive weight due to decreased energy expenditure rather than increased food intake. This evidence supports a role...