Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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A critical reassessment of the role of mitochondria in tumorigenesis.
PMID 16187796 · PMC1240051 · PLoS medicine · 2005 · 8 claims · 8 setups
A significant number of published medical mtDNA cancer studies are based on obviously flawed sequencing results.
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Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia.
PMID 19119453 · PMC2610644 · Journal of Korean medical science · 2008 · 7 claims · 3 setups
Bone marrow cells from AA patients show significantly more mtDNA aberrations (mean=25.6) than healthy controls (mean=12.8)
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mtDNA nt13708A variant increases the risk of multiple sclerosis.
PMID 18270557 · PMC2217590 · PloS one · 2008 · 8 claims · 5 setups
The mtDNA nt13708 G/A polymorphism (nt13708A allele) is significantly associated with increased risk of MS (OR=1.71, P=0.0002) across three well-matched European cohorts.
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Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer.
PMID 18842121 · PMC2571110 · BMC cancer · 2008 · 8 claims · 2 setups
Somatic mutations in the mtDNA D-loop are found in 57% of ovarian cancer samples, mostly C-tract length changes and substitutions
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Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
PMID 17895983 · PMC1976591 · PloS one · 2007 · 8 claims · 5 setups
Sequencing of complete mtDNA genomes in 23 pediatric patients identified 27 significant variants (12 novel, 15 known) associated with mitochondrial encephalomyopathies.
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External contamination in single cell mtDNA analysis.
PMID 17668059 · PMC1930155 · PloS one · 2007 · 8 claims · 6 setups
External DNA contamination is a real and non-negligible problem in single-cell mtDNA sequence analysis
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A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
PMID 18629826 · PMC2697596 · Human mutation · 2008 · 8 claims · 5 setups
A novel 154-bp mtDNA control region deletion (m.16154_16307del154) was identified in a healthy family
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Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.
PMID 20022607 · PMC3891822 · Journal of the neurological sciences · 2010 · 8 claims · 7 setups
The heteroplasmic m.12276G>A mtDNA tRNA Leu(CUN) mutation causes a childhood-onset, slowly progressive encephalopathy with ataxia, cognitive impairment, dyspraxia, and sensorineural hearing loss
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Performance of mitochondrial DNA mutations detecting early stage cancer.
PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups
The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.
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MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups
Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype
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MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
PMID 19758471 · PMC2745589 · BMC bioinformatics · 2009 · 8 claims · 5 setups
MtSNPscore, a weighted scoring pipeline combining literature evidence, in silico predictions, and case/control frequency, can prioritize likely pathogenic mtDNA variations
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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups
GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss
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Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.
PMID 18820594 · PMC2905378 · Pharmacogenetics and genomics · 2008 · 7 claims · 8 setups
The tRNA-Thr G15927A mutation has a potential modifier role that increases penetrance and expressivity of A1555G-associated deafness.