David Samuels’ peer-reviewed publications on mitochondria and disease. Papers dealing with HIV/AIDS are listed separately.

Links to full text are in the journal names.

 

 

Mitochondrial haplogroups are associated with severity of diabetic retinopathy

Christopher B. Estopinal, Isaac M. Chocron, Megan B. Parks, Emily A. Wade, Rachel M. Roberson, L. Goodwin Burgess, Milam A. Brantley Jr, David C. Samuels (2014) Investigative Ophthalmology & Visual Science 55(9) 5589-5595

 

A systematic survey of human mitochondrial DNA rearrangements in health and disease

Joana Damas, David C. Samuels, Joao Carneiro, Antonio Amorim, Filipe Pereira (2014), Human Mutation 35(1) 1-14.

 

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7410 cases and 5200 controls

Gavin Hudson, Kalliope Panoutsopoulou, Ian Wilson, Lorraine Southam, Nigel W. Rayner, Nigel Arden, Fraser Birrell, Ian Carluke, Andrew Carr, Kay Chapman, Panos Deloukas, Michael Doherty, Andrew McCaskie, William E.R. Ollier, Stuart H. Ralston, Mike R. Reed, Tim D. Spector, Ana M. Valdes, Gillian A. Wallis, J. Mark Wilkinson, Eleftheria Zeggini, arcOGEN Consortium, David C Samuels, John Loughlin, Patrick F. Chinnery (2013), Annals of the Rheumatic Diseases (72) 136-139. PMC3551219

 

What is influencing the phenotype of the common homozygous polymerase gamma mutation p.Ala467Thr?

Vivienne C.M. Neeve, David C. Samuels Laurence Bindoff, Bianca van den Bosch, Gert Van Goethem, Bert Smeets, Anne Lombes, Michio Hirano, Salvatore DiMauro, Maaike De Vries, Jan Smeitink, Bart Smits, Carsten Saft, Bianca-Cortina Keiling, Birgit Czermin, Angela Abicht, Hanns Lochmüller, Gavin Hudson, Grainne G. Gorman, Doug M. Turnbull, Robert W. Taylor, Elke Holinski-Feder, Patrick F. Chinnery, Rita Horvath (2012) Brain (135) 3614-3626. PMC3525059

 

Adult onset spinocerebellar ataxia syndromes due to MTATP6 mutations

G. Pfeffer, A. Hassani, E.L. Blakely, C.L. Alston, M. Boggild, R. Horvath, D.C. Samuels, R.W. Taylor, P.F. Chinnery (2012), Journal of Neurology, Neurosurgery and Psychiatry 83, 883-886.

 

Epigenetics, epidemiology and mitochondrial DNA diseases

P.F. Chinnery, H.R. Elliot, G. Hudson, D.C. Samuels, C.L. Relton (2012), International Journal of Epidemiology 41, 177-187.

 

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

P. Yu-Wai-Man, K.S. Sitarz, D.C. Samuels, P.G. Griffiths, A.K. Reeve, L.A. Bindoff, R. Horvath, P.F. Chinnery (2010), Human Molecular Genetics 19(15), 3043-3052. PMC2901142.

 

Pathogenic mitochondrial DNA mutations are common in the general public

H.R. Elliot, D.C. Samuels, J.A. Eden, C.L. Relton, P.F. Chinnery (2008). American Journal of Human Genetics 83: 254-260. PMC2495064.

 

What causes mitochondrial DNA deletions in human cells?

K.J. Krishnan, A.K. Reeve, D.C. Samuels, P.F. Chinnery, J.K. Blackwood, R.W. Taylor, S. Wanrooj, J.N. Spelbrink, R.N. Lightowlers, D.M. Turnbull (2008) Nature Genetics 40 (3): 275-279. PMID:18305478.

 

Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A>G mutation in blood

H.K. Rajasimha, P.F. Chinnery, D.C. Samuels (2008), American Journal of Human Genetics 82: 333-343. PMC2427290.

 

Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A -> G

S.E. Durham, D.C. Samuels, L.M. Cree, P.F. Chinnery (2007) American Journal of Human Genetics 81 (1): 189-195. PMC1950909.

 

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A -> G mtDNA mutation

A. Pyle, R.W. Taylor, S.E. Durham, M. Deschauer, A.M. Schaefer, D.C. Samuels, P.F. Chinnery (2007), Journal of Medical Genetics 44 (1): 69-74. PMC2597915.

 

Is selection required for the accumulation of somatic mitochondrial DNA mutations in post-mitotic cells?

S.E. Durham, D.C. Samuels, P.F. Chinnery (2006) Neuromuscular Disorders 16 (6): 381-386. PMID:16684599.

 

The power to detect disease associations with mitochondrial DNA haplogroups

D.C. Samuels, A.D. Carothers, R. Horton, P.F. Chinnery (2006) American Journal of Human Genetics 78 (4): 713-720. PMC1424681.

 

Two direct repeats cause most human mtDNA deletions

D.C. Samuels, E.A. Schon, P.F. Chinnery (2004), Trends in Genetics 20 (9): 393-398. PMID:15313545.

 

Mitochondrial DNA mutations accumulate in ageing, cancer and mitochondrial disease: Is there a common mechanism?

P.F. Chinnery, D.C. Samuels, J.L. Elson, D.M. Turnbull (2002) Lancet 360 (9342): 1323-1325. PMID:12414225.

 

The length of cytochrome c oxidase negative segments in muscle fibres in patients with mtDNA myopathy

J.L. Elson, D.C. Samuels, M.A. Johnson, D.M. Turnbull, P.F. Chinnery (2002), Neuromuscular Disorders 12 (9): 858-864. PMID:12398838.