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Most examples of antibiotic resistance in pathogenic bacteria are not the result of a mutation that alters the protein that the antibiotic attacks, although this mechanism can occur.
It represents a linker domain mutation that alters trafficking of the propeptide to early endosomes [ 29] and causes dysregulated proteostasis [ 30].
A specific example was a somatic mutation that alters the DNA-binding motif of transcription factor YY1 found in 14 patients with insulin-producing adenomas.
Scn8a med is a loss-of-function allele (29), and Scn8a med-jo is a missense mutation that alters the voltage dependence of activation and inactivation (32).
The most severe allele, tra1- SRR3413 is a triple alanine scanning mutation that alters the serine-arginine-arginine residues found at positions 3413 to 3415.
Cheng et al. [ 55], while working on mice bearing the Arctic mutation that alters the sequence of the Aβ peptide and makes it more prone to precipitate in fibrillar form (without altering the ratio Aβ42/Aβ40), demonstrated a striking dissociation between plaque formation and functional deficits.
Similar(51)
The first of these – the cognitive revolution – was the real game-changer; a genetic mutation that altered the inner wiring of Homo sapiens, enabling them to think in unprecedented ways and to communicate in an altogether new type of language which could not only convey information but also create imagined worlds.
Our analysis pinpoints key residues for mutational analysis, and provides new clues to cancer mutations that alter the canonical modes of ErbB kinase regulation.
The goal in studying the exomes is to identify mutations that alter the amino acid content of a protein, possibly resulting in altered protein function.
Shortly thereafter, mutations that altered the function of the sclerostin (SOST) gene were also associated with altered human bone mass.
Tumor-specific mutated proteins (neoantigens) are another class of tumor antigens, which arise via mutations that alter amino acid coding sequences.
More suggestions(15)
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