Mutations in genes that encode RBPs have been observed in patients with motor neuron disorders such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), multisystem proteinopathy (MSP) and frontotemporal lobar degeneration (FTLD). In adults, ALS is the most common motor neuron d...
aTherefore, many earlier studies have focused on identification and characterization of mutations in the candidate gene for aroma, Badh2 so far two major alleles which encode aroma (badh2-E7 and badh2-E2) have been identified. 所以,及早许多学习集中于证明,并且变化的描述特性在候选人基因为芳香, ...
Vaccine development targeting rapidly evolving pathogens such as HIV-1 requires induction of broadly neutralizing antibodies (bnAbs) with conserved paratopes and mutations, and in some cases, the same Ig-heavy chains. The current trial-and-error search for immunogen modifications that improve selection...
To directly evaluate the functional significance of NEAT1 SNVs, we use in cellulo mutagenesis to introduce tumour-like mutations in the gene and observe a significant and reproducible increase in cell fitness, both in vitro and in a mouse model. Mechanistic studies reveal that SNVs remodel the ...
Because the PR-sensitive phenotype significantly reduced viral titer, we previously suggested that these mutations would be selected against in patients. We also show that RT mutations that are known to confer a temperature sensitive phenotype are rarely found in the Stanford database....
Quality control of the DNA was performed. Their DNA sequences were compared and analyzed with the published gene sequence. The Genome Analysis Toolkit (Broad Institute, Cambridge, MA, USA) was used to detect variants in the BAM file that passed quality control and a VCF format file was ...
The essential SUP35 gene encodes yeast translation termination factor eRF3. Previously, we isolated nonsense mutations sup35-n and proposed that the viability of such mutants can be explained by readthrough of the premature stop codon. Such mutations, as well as the prion [PSI+], can appear ...
Lung cancer is still the leading cause of cancer-related mortality. Over the past two decades, the management of non-small cell lung cancer (NSCLC) has undergone a significant revolution. Since the first identification of activating mutations in the epidermal growth factor receptor (EGFR) gene in...
Adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) is a purine salvage enzyme that catalyses the reaction between adenine and 5-phosphoribosylpyrophosphate (PRPP) to form AMP. Expression of the aprt gene is not required for cell survival in culture, therefore, it may be selected against by ...
However, the range of clinical manifestations that can be present when MED12 or MED13L are mutated is strik- ingly similar. For instance, it is worthy to note that all the fea- tures shared by patients 2 and 3, both of them with mutation in the MED13L gene (hypotonia, low-set ...