Imogen G. Franklin
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View article: Scientific Business Abstracts
Scientific Business Abstracts Open
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View article: T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants
T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants Open
Pathogenic mitochondrial DNA (mtDNA) single-nucleotide variants are a common cause of adult mitochondrial disease. Levels of some variants decrease with age in blood. Given differing division rates, longevity, and energetic requirements wi…
View article: T cell differentiation drives the negative selection of pathogenic mtDNA variants
T cell differentiation drives the negative selection of pathogenic mtDNA variants Open
Pathogenic mitochondrial (mt)DNA single nucleotide variants are the most common cause of adult mitochondrial disease. Whilst levels of the most common heteroplasmic variant (m.3243A>G) remain stable in post-mitotic tissues, levels in mitot…
View article: Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder
Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder Open
Maternally inherited mitochondrial diseases are caused by pathogenic mitochondrial (mt)DNA variants. Affecting individuals at any age, they are often multi-systemic and manifest extreme clinical variability. We have limited understanding o…