In this study, we dissected the function and association between mtp53 and PARP using a number of different cell lines, patient-derived xenografts (PDX), tissue microarrays (TMA), and The Cancer Genome Atlas (TCGA) database. Endogenous mtp53 R273H and exogenously expressed R273H and R248W ...
We use essential cookies to make sure the site can function. We also use optional cookies for advertising, personalisation of content, usage analysis, and social media. By accepting optional cookies, you consent to the processing of your personal data - including transfers to third parties. Some...
Suppressing the aggregation propensity of this sequence by mutagenesis abrogated gain of function and restored activity of wild-type p53 and its paralogs. In the p53 germline mutation database, tumors carrying aggregation-prone p53 mutations have a significantly lower frequency of wild-type allele loss...
We use essential cookies to make sure the site can function. We also use optional cookies for advertising, personalisation of content, usage analysis, and social media. By accepting optional cookies, you consent to the processing of your personal data - including transfers to third parties. Some...
Following the identification of UCC_UUU_CGU as the site of +1 PRF in influenza A virus [6], we screened 37,257 human mRNA RefSeq CDSs from the National Center for Biotechnology Information (NCBI) database for in-frame UCC_UUU_CGU sequences. We found 12 unique matches (i.e. excluding ...
The information of the p53 protein sequence (PDB: 6GGC) was detected on the Protein Data Bank (PDB) database, which molecular three dimensional (3D) visualization by PyMOL software. The 3D structure of mutant p53 proteins after TP53 amino acid residues were mutated as p.R175H, p.R273H,...
(2)S, the authors hypothesized that patients possessing gain-of-function polymorphisms of the CBS gene will experience a decreased incidence of delayed cerebral ischemia (DCI) following aneurysmal subarachnoid hemorrhage (aSAH).Patients were enrolled in a prospective observational database of aSAH ...
This is the first description of a case of PME caused by a heterozygous gain-of-function c.890C > A mutation in KCNA2. The mutation leads to the amino acid substitution p.Arg297Gln, which involves the second of the critical arginine residues in the S4 voltage sensor of the voltage...
of the two mutations associated with this phenotype showed almost complete loss of function with a dominant-negative effect. Two further individuals presented with a different and more severe epileptic encephalopathy phenotype. They carried mutations inducing a drastic gain-of-function effect leading to ...
However, recent data point to certain highly prevalent neoplasms not included in the TCGA database (Table 2 and reference therein). The frequency of Gαs activating mutations in adenocarcinoma is comparable between the two data sets. The striking difference is the common © The Author(s). ...