Sentence examples for mutations have shown from inspiring English sources
Although available imaging for the families affected by CHMP1A mutations have shown a stable course, in many cases this diagnosis implies a neurodegenerative condition (3).
Recently, a drug class called poly ADP ribose polymerase (PARP) inhibitors that targets cancers caused by BRCA mutations have shown promise in clinical trials treating breast cancer [52].
The mitochondrial protease OMI (also known as HtrA2) has been implicated in Parkinson's Disease (PD) and deletion or protease domain point mutations have shown profound neuropathologies in mice.
Knockdown and targeted mutations have shown that both CEBPA and CEBPB are important for ovulation and Cebpb-deficient mice are sterile presumably due to a granulosa cell defect [8].
On the other hand, studies on the effects of oxidative modifications and of the side-chain polarity (e.g. with M-to-S mutations) have shown that perturbations of the native state can transmit long-range and, disturbing the network of stabilizing interactions, facilitate the population of alternative states, some of which may cause the routing into the productive pathogenic conversion [31] [33].
Cancer therapies targeting defined functional mutations have shown clinical benefit.
The recent cluster analyses of driver mutations have showed that several of these mutations converge on metabolic pathways [ 58– 62], revealing that cancer hallmarks can indeed impinge on cancer metabolism.
Genetic mapping of das13 (one of the das mutations) has shown it to be in the region of the rnh gene encoding RNase H.
However, evaluation of telomere lengths of DNA samples of following generations of TERT mutations has shown a statistical trend toward further telomere shortening for three large kindreds.
Analysis of the ability of this microarray to detect known gene mutations has shown a 97% mutation detection rate for base substitutions.
Recent studies utilizing point-mutations have shown that single amino acid changes in a GABA receptor subunit will have dramatic effects on the kinetics of the receptor [49], [50].
