function, suggesting different pathogenic mechanisms might be involved in the epileptic phenotype (Endele et al., 2010,Addis et al., 2017). This also highlights the importance of characterizing the functional consequences of each variant to develop adequate and personalized therapy for patients ...
Figure 1. Loss-of-Function Mutations in dACOX1 in Flies Cause Lethality (A) Schematic representation of the molecular lesion in dACOX1, the dACOX1 deletion (dACOX1ywg), and the insertional mutation (dACOX1T2A). (B) Summary of complementation tests. GR: Genomic Rescue construct. The numbers ...
p53 is mutated in over half of human cancers. In addition to losing wild-type (WT) tumor-suppressive function, mutant p53 proteins are proposed to acquire gain-of-function (GOF) activity, leading to novel oncogenic phenotypes. To study mutant p53 GOF mechanisms and phenotypes, we genetically e...
B chromosomes are extra, non-essential chromosomes present in addition to the normal complement of A chromosomes. Many species of cichlid fish in Lake Malawi carry a haploid, female-restricted B chromosome. Here we show that this B chromosome exhibits drive, with an average transmission rate of ...
2-oxoglutarate dioxygenases enzymes, suggesting that oxygen deprivation (hypoxia) may influence histone trimethylation. Using the MCF7 breast epithelial adenocarcinoma cell model, we have determined the relationship between epigenomic and transcriptomic reprogramming as a function of fluctuating oxygen tension....
in vivo RNAi. The amino acid biosynthesis pathways in MED/Q genome are partitioned among the host and endosymbiont genomes in a manner distinct from other hemipterans. Evidence of horizontal gene transfer to the host genome may explain their obligate relationship. Putative loss-of-function in the...
Boaz Cook and colleagues show that dominant disease-causing mutations in genes encoding P-type ATPases result in a gain-of-function ionic leakage phenotype that is exacerbated at elevated temperatures. The authors propose that the mutations promote leaka
of mutant p53 function in a controlled context and has led to observations that challenged the mutant p53 gof hypothesis in myeloid malignancies 27 . given the potential of using mutant p53 protein as a therapeutic target in many cancer types, and the longstanding debate of whether gof activities...
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