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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Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.
PMID 11850598 · PMC3054831 · Journal of Korean medical science · 2002 · 7 claims · 5 setups
MELAS muscle shows strongly SDH-positive blood vessels (SSVs) and many COX-positive ragged-red fibers, while MERRF muscle shows neither SSVs nor COX-positive RRFs, giving distinct histochemical staining patterns between the two diseases.
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A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
PMID 18804929 · PMC2702532 · Brain & development · 2009 · 6 claims · 8 setups
A novel homozygous POMT2 mutation (c.604T>G, p.F202V) causes mild congenital muscular dystrophy with normal brain MRI
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Has reproduction · 100
Constructing eRNA-mediated gene regulatory networks to explore the genetic basis of muscle and fat-relevant traits in pigs.
PMID 38594607 · PMC11003151 · Genetics, selection, evolution : GSE · 2024 · 8 claims · 8 setups
H3K27ac ChIP-seq and RNA-seq were used to construct eRNA expression profiles across multiple tissues in Enshi Black (ES) and Duroc pigs, revealing tissue-level eRNA regulatory landscapes
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A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups
A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family
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The mitochondrial genome, a growing interest inside an organelle.
PMID 18488415 · PMC2526360 · International journal of nanomedicine · 2008 · 8 claims · 8 setups
mtDNA mutations are causally linked to a wide range of mitochondrial diseases, aging, and chronic degenerative diseases
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Has reproduction · 59
Global chromatin accessibility profiling analysis reveals a chronic activation state in aged muscle stem cells.
PMID 36093058 · PMC9459695 · iScience · 2022 · 8 claims · 8 setups
PFA-perfusion-based isolation preserves the true in vivo chromatin accessibility state, avoiding artifacts caused by tissue dissociation-induced activation
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
PMID 16919418 · PMC2842930 · Genomics · 2006 · 8 claims · 8 setups
Human FXN YAC transgenes containing GAA repeat expansions (YG22, YG8) rescue the embryonic lethality of homozygous Fxn knockout mice
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Development of animal models to test the fundamental basis of gene-environment interactions.
PMID 19037209 · PMC2703424 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups
Selective breeding for low and high intrinsic aerobic treadmill running capacity produced divergent rat lines (LCR and HCR) that contrast in propensity for complex disease
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Endurance exercise as a countermeasure for aging.
PMID 18716044 · PMC2570389 · Diabetes · 2008 · 8 claims · 8 setups
Reduced insulin sensitivity with age is likely related to adiposity and physical inactivity rather than being an inevitable consequence of aging.
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Cross species genomic analysis identifies a mouse model as undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma.
PMID 19956606 · PMC2779485 · PloS one · 2009 · 8 claims · 7 setups
A 100-gene signature from LSL-KrasG12D;Trp53Flox/Flox mouse sarcomas (vs normal muscle) is specifically and significantly enriched in human MFH but not other soft tissue sarcoma subtypes across three independent human datasets.
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Has reproduction
Brown fat activation reduces hypercholesterolaemia and protects from atherosclerosis development.
PMID 25754609 · PMC4366535 · Nature communications · 2015 · 7 claims · 8 setups
β3-AR agonist-mediated BAT activation reduces plasma triglycerides and cholesterol and protects against atherosclerosis development in APOE*3-Leiden.CETP mice.
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Alternative splicing of human peroxisome proliferator-activated receptor delta (PPAR delta): effects on translation efficiency and trans-activation ability.
PMID 17705821 · PMC2045109 · BMC molecular biology · 2007 · 8 claims · 8 setups
Multiple alternatively spliced 5'-UTR isoforms of human PPARdelta mRNA differ in translation efficiency
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Genomics--from Neanderthals to high-throughput sequencing.
PMID 16934106 · PMC1779599 · Genome biology · 2006 · 8 claims · 8 setups
Next-generation sequencing platforms (GS20/454 and Solexa) can deliver the throughput and cost reductions needed for population-scale and medical resequencing.
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Dcode.org anthology of comparative genomic tools.
PMID 15980535 · PMC1160116 · Nucleic acids research · 2005 · 8 claims · 7 setups
The dcode.org suite (zPicture, Mulan, eShadow, rVista 2.0, multiTF, Creme 2.0, ECR Browser) provides integrated tools for comparative genomic analysis and non-coding regulatory element discovery.
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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups
A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).
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In silico promoters: modelling of cis-regulatory context facilitates target predictio.
PMID 18505473 · PMC3823354 · Journal of cellular and molecular medicine · 2009 · 8 claims · 8 setups
An integrated 'profiling of transcriptional targets' (PTT) strategy by Freebern et al. identified IGF-1 as a co-modulator of immune cell function genes in mitogen/drug-activated T cells.