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We found that the effects of the candidate TFT mutation were indeed modulated by the nuclear background, suggesting that such nuclear modifiers might well exist.
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However, prior to gene expression, it is important to analyze the DNA construct to see whether the introduction of the mutation was indeed successful.
These data demonstrated that the ropB point mutation was indeed responsible for the lack of SpeB expression in the clinical isolate 5628.
The structure of the human PITX2 homeodomain-DNA complex showed that the p.R113P mutation is indeed likely to affect the DNA-binding function of PITX3 [27].
Through genotyping of four patients and two normal relatives in the RP9 family, we found the H137L mutation in the RP9 gene co-segregated with the disease, strongly indicating that the mutation is indeed the genetic cause of the disease.
First, others' structural studies have suggested that BicD typically attaches to cargos via its C-terminal domain, but our sequencing analysis (Fig. 6A) indicated that the location of the point mutation is indeed as expected, in BicD's very N-terminal domain, far from the C-terminal cargo-attachment region.
The A* mutation was indeed designed with this goal in mind.
If a mutation is indeed a true source-gene mutation, the amino acid it encodes may be reflected in the NANOG proteins of other vertebrates.
Interestingly, the R658C (TTD) mutation is indeed known to be temperature sensitive, and human TFIIH complex stability is sensitive to elevated temperature (Vermeulen et al., 2001).
Viability and fertility are rescued by a 20-kb transgene covering scaf6 (Pacman genomic clone CH322-104B15; Vetken et al. 2009), implying that the scaf6 mutation is indeed causative.
In the unique previous study on this issue, no BRAF mutation was indeed observed in a small subset of human HCC patients.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com