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Whereas overexpression of wild-type Twinkle promote recombination of mouse heart mtDNA, mice carrying the Twinkle dup352 364 mutation show a strong mtDNA replication stalling phenotype, similar to the one observed in cultured cells expressing the same mutation [19].
Individuals with a T=>G mutation show a substantially increased risk for developing colorectal cancer.
In puromycin, cells carrying the Oct site mutation show a slight shift to lower GFP levels.
This would predict that heterozygotes for this mutation show a 50% reduction in expression of functional Na+ channels.
However, this theory conflicts with some previous studies showing papillary carcinomas with BRAFV599R mutation show a poor prognosis (Xing et al, 2005).
Horses homozygous for the mutation show a more rapid greying process and tend to become whiter than heterozygous Grey horses [ 2].
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Humans carrying this mutation show an increased basal heart rate and decreased heart rate variability.
We further demonstrate that cells carrying the erg26 -1 mutation show an increased rate of mitochondrial DNA loss and delayed G1 to S phase transition.
All 13 cases of colorectal carcinoma with a KRAS mutation showed a gross polypoid configuration, compared to no KRAS mutation in the colorectal carcinomas with ulcerative configuration.
Fibroblast cells derived from DOA patients with missense mutation showed a significant impairment of oxidative phosphorylation (OXPHOS), mostly mediated by complex I [27].
The proband, who carried the mutation, shows a more severe phenotype than his brother and exhibited sleep disorder during early childhood whereas his brother did not.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com