but was the result of so-called “gain of function” research in a Wuhan lab, where scientists “spiked” a virus found in animals so it could infect humans. If true, the Chinese are directly responsible for the resulting pandemic’s massive economic and human ...
Gain-of-function has also been identified in humans, typically through duplication or triplication of the MECP2 gene, and is associated with the more recently defined neurodevelopmental disorder MECP2 duplication syn- drome. These bidirectional associations point to a funda- mental role for MECP2 ...
Mutant p53 gain of function: repression of CD95(Fas/APO-1) gene expression by tumor-associated p53 mutants. Oncogene 2003; 22: 5667–5676. 36 Weisz L, Zalcenstein A, Stambolsky P, Cohen Y, Goldfinger N, Oren M et al. Transactivation of the EGR1 gene contributes to mutant p53 gain ...
5.4.1 Response of antenna stations The principle physics signal measurable at each antenna station is the electric-field strength vector as a function of time. However, a single antenna cannot measure the vector, but only one projection. Moreover, the time resolution and the frequency bandwidth ...
Journal of Biomedical Science 2014, 21:40 http://www.jbiomedsci.com/content/21/1/40 RESEARCH Open Access Characterization of a new mouse p53 variant: loss-of-function and gain-of-function James Yi-Hsin Chan1,2, Ying-Chuan Chen3, Shu-Ting Liu3, Wei-Yuan Chou3*, Ching-Liang Ho4* ...
Our results demonstrate that gain-of-function mutations in the tumor suppressor SAMD9L cause cytopenia, immunodeficiency, variable neurological presentation, and predisposition to MDS with −7/del(7q), whereas hematopoietic revertant mosaicism commonly ameliorated clinical manifestations. The findings ...
Our research provides essential insights into diseases triggered by impaired AR function in musculoskeletal system and delivers a much deeper knowledge of skeletal muscle tissue pathophysiological characteristics this is certainly instrumental to build up effective treatment for muscle conditions. Dystonia is ...
Mutant p53 can attenuate the function of wild-type p53, p63 and p73. An aggregation-nucleating sequence in p53 that is revealed in structurally destabilized mutants can induce coaggregation with p63 and p73, resulting in their sequestration in cellular i
Therefore, all six mutations can be defined as gain- of-function, as they would give rise to an increased channel activity in response to a given mechanical stimulus. Discussion We present a comprehensive analysis of DHS-causing PIEZO1 mutations. Four novel PIEZO1 mutations were identified in ...
Svere combined immunodeficiencies (SCID) constitute a heterogeneous group of life-threatening genetic disorders that typically present in the first year of life. They are defined by the absence of autologous T cells and the presence of an intrinsic or extrinsic defect in the B-cell compartment. ...