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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 10 of 26

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Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SC, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJ, Horvath R, Chinnery PF
(2016) Hum Mol Genet 25: 1031-41
MeSH Terms: Bayes Theorem, Child, DNA, Mitochondrial, Female, Humans, Inheritance Patterns, Mitochondrial Diseases, Models, Genetic, Pedigree, Phenotype, Point Mutation, Polymorphism, Restriction Fragment Length, Publication Bias
Added February 15, 2016
0 Communities
1 Members
0 Resources
13 MeSH Terms
The E3 ligase PARC mediates the degradation of cytosolic cytochrome c to promote survival in neurons and cancer cells.
Gama V, Swahari V, Schafer J, Kole AJ, Evans A, Huang Y, Cliffe A, Golitz B, Sciaky N, Pei XH, Xiong Y, Deshmukh M
(2014) Sci Signal 7: ra67
MeSH Terms: Animals, Apoptotic Protease-Activating Factor 1, Blotting, Western, Carrier Proteins, Cell Survival, Cells, Cultured, Cytochromes c, Fluorescent Antibody Technique, HEK293 Cells, HeLa Cells, Humans, Immunoprecipitation, Mice, Mitochondrial Diseases, Neoplasms, Neurons, Proteolysis, RNA Interference, Ubiquitination
Added October 26, 2015
0 Communities
1 Members
0 Resources
19 MeSH Terms
High-throughput sequencing in mitochondrial DNA research.
Ye F, Samuels DC, Clark T, Guo Y
(2014) Mitochondrion 17: 157-63
MeSH Terms: DNA Copy Number Variations, DNA, Mitochondrial, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Mitochondrial Diseases, Polymorphism, Single Nucleotide
Added May 27, 2014
0 Communities
1 Members
0 Resources
7 MeSH Terms
Mitochondrial DNA rearrangements in health and disease--a comprehensive study.
Damas J, Samuels DC, Carneiro J, Amorim A, Pereira F
(2014) Hum Mutat 35: 1-14
MeSH Terms: Aging, DNA, Mitochondrial, Gene Rearrangement, Genome, Mitochondrial, Humans, Mitochondria, Mitochondrial Diseases, Neoplasms, Nucleic Acid Conformation, Regulatory Sequences, Nucleic Acid, Sequence Deletion
Added December 12, 2013
0 Communities
1 Members
0 Resources
11 MeSH Terms
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.
Kim SH, Scott SA, Bennett MJ, Carson RP, Fessel J, Brown HA, Ess KC
(2013) PLoS Genet 9: e1003563
MeSH Terms: Animals, Disease Models, Animal, Electron-Transferring Flavoproteins, Humans, Mechanistic Target of Rapamycin Complex 1, Mitochondria, Mitochondrial Diseases, Molecular Targeted Therapy, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Multiprotein Complexes, Signal Transduction, TOR Serine-Threonine Kinases, Zebrafish
Added September 24, 2013
1 Communities
4 Members
0 Resources
13 MeSH Terms
Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.
Raap AK, Jahangir Tafrechi RS, van de Rijke FM, Pyle A, Wählby C, Szuhai K, Ravelli RB, de Coo RF, Rajasimha HK, Nilsson M, Chinnery PF, Samuels DC, Janssen GM
(2012) PLoS One 7: e52080
MeSH Terms: DNA, Mitochondrial, Evolution, Molecular, Genetic Heterogeneity, Genomic Instability, Humans, Mitochondrial Diseases, Mitosis, Mutation, Point Mutation
Added December 12, 2013
0 Communities
1 Members
0 Resources
9 MeSH Terms
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R
(2012) Brain 135: 3614-26
MeSH Terms: Adolescent, Adult, Age of Onset, Alanine, Child, Cohort Studies, DNA Mutational Analysis, DNA Polymerase gamma, DNA-Directed DNA Polymerase, Diffuse Cerebral Sclerosis of Schilder, Europe, Family Health, Female, Genetic Predisposition to Disease, Homozygote, Humans, Male, Middle Aged, Mitochondrial Diseases, Muscle, Skeletal, Mutation, Ophthalmoplegia, Chronic Progressive External, Statistics as Topic, Statistics, Nonparametric, Threonine, Young Adult
Added December 12, 2013
0 Communities
1 Members
0 Resources
26 MeSH Terms
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.
Bates MG, Hollingsworth KG, Newman JH, Jakovljevic DG, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS
(2013) Eur Heart J Cardiovasc Imaging 14: 650-8
MeSH Terms: Adult, Cardiomyopathies, Case-Control Studies, Cohort Studies, Contrast Media, DNA, Mitochondrial, Female, Gadolinium DTPA, Heterozygote, Humans, Hypertrophy, Left Ventricular, Magnetic Resonance Imaging, Cine, Magnetic Resonance Spectroscopy, Male, Middle Aged, Mitochondrial Diseases, Point Mutation, Prognosis, Reference Values, Statistics, Nonparametric, Ventricular Remodeling
Added March 5, 2014
0 Communities
1 Members
0 Resources
21 MeSH Terms
Epigenetics, epidemiology and mitochondrial DNA diseases.
Chinnery PF, Elliott HR, Hudson G, Samuels DC, Relton CL
(2012) Int J Epidemiol 41: 177-87
MeSH Terms: DNA Methylation, DNA, Mitochondrial, Epigenesis, Genetic, Humans, Mitochondrial Diseases
Added December 12, 2013
0 Communities
1 Members
0 Resources
5 MeSH Terms
Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine.
Mudd SH, Wagner C, Luka Z, Stabler SP, Allen RH, Schroer R, Wood T, Wang J, Wong LJ
(2012) Mol Genet Metab 105: 228-36
MeSH Terms: Adolescent, Base Sequence, DNA, Mitochondrial, Exons, Female, Glycine N-Methyltransferase, Humans, Infant, Liver, Male, Membrane Proteins, Methionine, Mitochondrial Diseases, Mitochondrial Proteins, Molecular Sequence Data, Mutation, S-Adenosylmethionine, Sequence Deletion
Added January 20, 2015
0 Communities
1 Members
0 Resources
18 MeSH Terms