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While most mutations that we examined caused increased intracellular and decreased extracellular COL4A1 and COL4A2, we identified three mutations with distinct biosynthetic signatures.
We have now identified the CHD orthologs of Dictyostelium and associate loss-of-function mutations with distinct developmental phenotypes and altered gene expression profiles.
However, potential issues of using domain-centric ontologies arise when a common domain harbors multiple mutations with distinct and uniquely expressed phenotypes.
Next, we selected a subset of Col4a1 mutations with distinct characteristics and we evaluated the effects of reduced temperature or 4PBA treatment by measuring intracellular and extracellular COL4A1 levels 12 h after inducing collagen secretion.
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AML is characterized by somatic cytogenetic and molecular mutations associated with distinct clinical outcomes.
To test the efficacy of FAK inhibition in KRAS mutant NSCLC with distinct mutation cohorts (A: TP53, CDKN2A wild type, B: TP53 wild type, CDKN2A altered, C: TP53 mutant, CDKN2A wild type, and D: TP53 mutant, CDKN2A altered), a phase II multi-center study is currently underway in patients with KRAS mutant NSCLC who have already received one platinum doublet regimen.
Different driver mutations were associated with distinct patterns of specific metabolites, such as lower levels of several lipid-glycerophosphocholines in tumors with mutated TP53.
In conclusion, TP53 mutations are associated with distinct clinic-biological features and poor prognosis in de novo AML patients and are rather stable during disease progression.
Unlike β-mannosidosis, where mutations are homozygous with distinct expression, β-mannosidosis can be either heterozygous or homozygous, which significantly reduces the chances of identification in patients with mild mutations.
Also, given that there was significant homogeneity in the FIC1 patients who shared the same mutation compared to the BSEP patients who were unrelated with distinct mutations, it is possible that the specific mutation in the FIC1 patients may intrinsically be associated with a milder disease and more favorable outcome in this study.
Moreover, ASXL1 mutation was associated with distinct clinical and biological features and a poorer outcome.
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