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).

• Genetic variation in PARL influences mitochondrial content.

  PMID 19862556 · PMC2829432 · Human genetics · 2010 · 7 claims · 5 setups

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  PARL is a key regulator of mitochondrial integrity and function and plays a role in cellular apoptosis

  genomic nuclear parl pcr snp real-time

• Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

  PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups

  Has reproduction · 75

  Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes

  patients family saccharomyces cho-k1 mutation deletion yeast

• Longitudinal analysis of early stage sarcopenia in aging rhesus monkeys.

  PMID 18983905 · PMC2693938 · Experimental gerontology · 2009 · 8 claims · 6 setups

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  mtDNA deletion mutations induce ETS enzyme abnormalities (COXneg/SDHhyp phenotypes) linked to intra-fiber atrophy and fiber loss

  rhesus vastus muscle single dual hematoxylin immunohistochemistry

• The mitochondrial genome, a growing interest inside an organelle.

  PMID 18488415 · PMC2526360 · International journal of nanomedicine · 2008 · 8 claims · 8 setups

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  mtDNA mutations are causally linked to a wide range of mitochondrial diseases, aging, and chronic degenerative diseases

  post-mitotic mtdna homozygous high-fat southern rflp-pcr dhplc

• MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.

  PMID 19758471 · PMC2745589 · BMC bioinformatics · 2009 · 8 claims · 5 setups

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  MtSNPscore, a weighted scoring pipeline combining literature evidence, in silico predictions, and case/control frequency, can prioritize likely pathogenic mtDNA variations

  sporadic mitochondrial reported ataxia mitochondrial functional compensatory

• Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.

  PMID 18775783 · PMC2729512 · Molecular and cellular neurosciences · 2008 · 8 claims · 8 setups

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  Six 22q11 genes (Mrpl40, Prodh, Slc25a1, Txnrd2, T10, Zdhhc8) encode proteins that localize to mitochondria, including neuronal/synaptic mitochondria.

  orthologues nih-3t3 3t3 mefs bioinformatic egfp co-transfection

• A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

  PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups

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  The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls

  peripheral cos-7 dhplc immunofluorescence

• Discovery of genes activated by the mitochondrial unfolded protein response (mtUPR) and cognate promoter elements.

  PMID 17849004 · PMC1964532 · PloS one · 2007 · 8 claims · 5 setups

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  mtUPR responsive genes (YME1L1, MPPβ, Tim17A, NDUFB2, Endonuclease G, Thioredoxin 2, plus previously known ClpP, Cpn60/10, MtDnaJ) all contain a CHOP element in their promoters

  genome cos-7 promoters bioinformatic promoter-luciferase site-directed

• Leber's hereditary optic neuropathy--case report and literature review.

  PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups

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  Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON

  peripheral left optic visual pcr muscle visual

• Endogenous Fatty Acid Synthesis Drives Brown Adipose Tissue Involution.

  PMID 33440156 · PMC8240962 · Cell reports · 2021 · 8 claims · 8 setups

  Has reproduction

  Endogenous fatty acid synthesis (DNL), regulated by ChREBP, is the central driver of BAT whitening/involution at thermoneutrality.

  bat fatty lipidomics qpcr

• Large-scale analysis of human alternative protein isoforms: pattern classification and correlation with subcellular localization signals.

  PMID 15860772 · PMC1087780 · Nucleic acids research · 2005 · 8 claims · 8 setups

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  Constructed a large-scale dataset of 6876 human alternative protein isoforms from 2624 genes by combining H-Invitational full-length cDNA data and SwissProt VARSPLIC entries

  full-length alternative refseq genome pairwise mitochondrial signal

• LaSSO, a strategy for genome-wide mapping of intronic lariats and branch points using RNA-seq.

  PMID 24709818 · PMC4079972 · Genome research · 2014 · 8 claims · 8 setups

  Has reproduction · 68

  LaSSO (Lariat Sequence Site Origin) identifies intronic lariat reads and pinpoints branch points genome-wide from RNA-seq data by considering every intronic base as a potential branch point and including all possible exon-skipping lariats.

  schizosaccharomyces pombe rna-seq lasso lariat-specific

• Celline: a flexible tool for one-step retrieval and integrative analysis of public single-cell RNA sequencing data.

  PMID 41458999 · PMC12738925 · Frontiers in bioinformatics · 2025 · 8 claims · 7 setups

  Has reproduction · 64

  Celline is a Python package executing an entire scRNA-seq workflow (retrieval, preprocessing, integration, analysis) using single-line commands per step

  mus brain integrated homo droplet-based scrna-seq cell-type

• Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

  PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups

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  Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes

  peripheral saccharomyces yeast ins-1e dhplc proton western

• mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice.

  PMID 19763141 · PMC2909846 · Journal of human genetics · 2009 · 8 claims · 8 setups

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  The G10398A cybrid shows slower proliferation and delayed cell cycle progression (G1 accumulation, decreased G2/M) compared to wild-type G10398 cybrid

  blood mitochondria g10398a cybrid pcr cybrid spectrophotometric

• Pleiotropic effects of MORC2 derive from its epigenetic signature.

  PMID 40302207 · PMC12782172 · Brain : a journal of neurology · 2026 · 8 claims · 8 setups

  Has reproduction

  A MORC2-specific DNA methylation episignature exists that is universal across all MORC2-associated phenotypes and conserved across blood and fibroblast tissue

  blood fibroblasts fibroblast patient-derived methylation svm phenotype-specific

• Brown adipose tissue thermogenic adaptation requires Nrf1-mediated proteasomal activity.

  PMID 29400713 · PMC5839993 · Nature medicine · 2018 · 8 claims · 10 setups

  Has reproduction · 88

  Cold adaptation increases proteasomal activity in BAT, which is required for non-shivering thermogenesis

  bat body adipocytes mitochondria proteasomal core qpcr