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How may a regulatory ligand (or mutation) affect the free-energy landscape including energy barriers of the transition states?
The functional importance of AS is even more highlighted by the finding that about 10% of genetic diseases caused by point mutation affect the spliceosome formation [2].
To test whether this mutation affect the splicing of Sl-eIF4E1, we designed primers to amplify the full-length cDNA of the gene.
Here we determined whether, and how optineurin overexpression and E50K mutation affect the internalization of transferrin (Tf), widely used as a marker for receptor-mediated endocytosis.
The location and type of TP53 mutation affect the ability of TP53 to regulate its target genes, leading to aberrant functions (Blandino et al, 1999) with clinical implications (Kim and Deppert, 2006).
Taken together, our findings indicate that VvMYB5bL is still able to bind DNA but the structural consequences linked to the mutation affect the capacity of the protein to activate the transcription of some flavonoid genes by modifying the interaction with its co-partner(s).
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FRAP analysis reveals that the R1747Q missense mutation affects the mobility of ciliary molecules.
A temperature sensitive nonsense mutation affecting the synthesis of a major protein of Escherichia coli K12.
Cystic fibrosis phenotype heterogeneity cannot be directly attributed to the type of mutation affecting the gene encoding the CFTR protein.
Either these two strains belong to different species or one carries a regulatory mutation affecting the spine synthesis.
Djuric, U. et al. MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells.
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