Our mutational screening also revealed a nonsense mutation affecting the catalytic domain of KIT that requires further experimental evaluation to assess its functional significance.
In contrast, a construct expressing a mutated variant of p300, with a mutation affecting the Histone Acetyl-Transferase domain (LY-RR) (36), failed to stabilize endogenous ΔNp63 α in HaCaT cells (Fig. 2B).
A temperature sensitive nonsense mutation affecting the synthesis of a major protein of Escherichia coli K12.
Either these two strains belong to different species or one carries a regulatory mutation affecting the spine synthesis.
Cystic fibrosis phenotype heterogeneity cannot be directly attributed to the type of mutation affecting the gene encoding the CFTR protein.
For a brief moment in the mid-1990s, leptin seemed to be a potential wonder cure for obesity, when Friedman and others showed that a mutation affecting the leptin gene caused morbid obesity in mice and humans.
The remarkable association between the DMRT3 nonsense mutation and gaitedness across horse breeds, combined with the demonstration that mouse Dmrt3 is required for normal development of a coordinated locomotor network in the spinal cord, allow us to conclude that DMRT3_Ser301STOP is a causative mutation affecting the pattern of locomotion in horses.
All this evidence has supported the view that the severity and manifestation of intestinal disease in CF is dependent on the influence of modifier genes, that is to say on the existence of other genes that can modify the course of the disease independently of the type of mutation affecting the CFTR gene17,18,19,20.
Our goal is to identify factors that normally function in antagonizing CO formation; as part of our strategy, we are conducting a genetic screen for suppressors of a temperature-sensitive mutation affecting the conserved CO-promoting complex MSH-4/MSH-5.
Nevertheless, one prominent example of genetic mutation affecting the Hippo pathway is Neurofibromatosis 2, a dominantly inherited familial syndrome caused by mutations in the NF2 gene.
That finding, Chen says, shows that a mutation affecting the glutamate receptor gene "might be relevant, but can't show it's the cause one way or the other in humans".
