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Robert N. Lightowlers
Researcher at Newcastle University
Publications - 215
Citations - 15257
Robert N. Lightowlers is an academic researcher from Newcastle University. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrion. The author has an hindex of 60, co-authored 213 publications receiving 14134 citations. Previous affiliations of Robert N. Lightowlers include University of Newcastle & University of Oregon.
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Journal ArticleDOI
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
Journal ArticleDOI
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease
TL;DR: How much there is still to learn about mitochondrial genetics is reiterated to discuss recent observations that have addressed several fundamental issues and to predict the segregation and transmission of a mutant genome.
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Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
Lyndsey Craven,Helen A. L. Tuppen,Gareth D. Greggains,Stephen J. Harbottle,J.L. Murphy,Lynsey M. Cree,Alison Murdoch,Patrick F. Chinnery,Robert W. Taylor,Robert N. Lightowlers,Mary Herbert,Douglass M. Turnbull,Douglass M. Turnbull +12 more
TL;DR: It is shown that transfer of pronuclei between abnormally fertilized human zygotes results in minimal carry-over of donor zygote mtDNA and is compatible with onward development to the blastocyst stage in vitro.
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What causes mitochondrial DNA deletions in human cells
Kim J. Krishnan,Amy K. Reeve,David C. Samuels,Patrick F. Chinnery,John K. Blackwood,Robert W. Taylor,Sjoerd Wanrooij,Johannes N. Spelbrink,Robert N. Lightowlers,Douglass M. Turnbull +9 more
TL;DR: It is concluded that mtDNA deletions are most likely to occur during repair of damaged mtDNA rather than during replication, having important implications for prevention of mtDNA disease and, potentially, for the understanding of the aging process.
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Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
TL;DR: M measurement of the level of the A3243G and A8344G mutations in muscle will allow the identification of individuals who are at risk of developing specific complications, thus improving the prognostic advice that can be given to patients and family members who carry these mutations.