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The tectorial membrane (TM) is an extracellular matrix of the cochlea whose prominent role in hearing has been demonstrated through mutation studies.
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Their key roles in the cell have been demonstrated through the description of numerous mutations in human sHSPs found to be involved in severe pathologies (desmin-related myopathy [4], neurodegenerative diseases, distal hereditary motor neuropathy, cataract or tumors) [5] [7].
The pathologic effects of this mutation have been demonstrated through induction of necrosis-like programmed cell death in the human monocytic line THP-1 and ASC-dependent NF-κB activation (3).
Finally, the generality and robustness of the barcoding-SMRT approach for mutation identification and SNP phasing in a complex genome is demonstrated through analysis of target amplicons from primary lymphomas and derived cell lines.
The clinical utility of this method was demonstrated through genetic analysis of the released cells, using PCR and Sanger sequencing to reveal a mutation characteristic of A549 cells, KRASG12S.
Our strategy is demonstrated through successful construction of an E. coli K12 malic enzyme expression library that contains members with simultaneous mutations on amino acid residues G311, D345 and G397.
Antibody specificity was demonstrated through peptide blocking.
Although mutations in eIF4G factors responsible for potyvirus resistance were never identified in the natural diversity of cultivated species, the requirement of eIF4G for potyvirus infection was demonstrated through susceptibility analysis of A. thaliana knocked-out for eIF4G genes [58].
It has been demonstrated that telomerase mutations cause aging-related diseases such as idiopathic pulmonary fibrosis.
Although the utility of GS has been demonstrated repeatedly through phenotypic observation, the nature of the mutations accumulated during the strain evolution has not been tracked through genome resequencing.
Only the oxidase activity has been demonstrated in vivo, through functional complementation of the dsbA mutation in E. coli [ 22].
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