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Progressive pathological aortic root enlargement as the result of degeneration of microfibril architecture and consequential loss of extracellular matrix integrity due to fibrillin-1 (FBN1) mutations are commonly diagnosed clinical manifestations of MFS.
That's important because those mutations are commonly medically relevant.
Beta-catenin mutations are commonly found in endometrial cancers with squamous cells.
S→D and S→E mutations are commonly used as phospho-mimetics, suggesting that, in cells no longer undergoing mitosis, the function of SIRT1 affected by phosphorylation at this residue is essential.
To test whether HIV-1 CTL escape mutations are commonly associated with altered recognition by myelomonocytic MHC class I receptors on myelomonocytic cells, we here focused on analyzing how escape variants in four immunodominant HIV-1 CTL epitopes change interactions between peptide/MHC class I complexes and the inhibitory myelomonocytic MHC class I receptor ILT4.
Mild activating mutations are commonly associated with Noonan and Noonan-related syndromes (Tidyman and Rauen, 2009).
Similar(25)
Among a representative sample of ARV-naïve subjects from the CASTLE study, HIV variants possessing TDR mutations were commonly detected by UDS.
We found that mutations were commonly fixed in relA, which codes guanosine tetraphosphate synthetase.
These mutations were commonly found in patients fitting the responsive profile observed in initial and subsequent clinical studies [ 3, 4, 10], specifically female non-smokers of Asian descent.
The pathogenicity of Col4a1 and Col4a2 mutations is commonly attributed to intracellular accumulation and impaired secretion of heterotrimers that incorporate mutant COL4A1 or COL4A2 proteins.
Following a further seminal study, the interference between linked mutations is commonly referred to as the Hill Robertson effect (Hill and Robertson 1966).
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