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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Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.
PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups
Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells
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PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.
PMID 20035629 · PMC2806268 · BMC medical genetics · 2009 · 8 claims · 7 setups
All UK vCJD cases tested (147/147) are methionine homozygous (MM) at PRNP codon 129
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Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups
CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease
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Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups
Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series
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Sequence variations of GRM6 in patients with high myopia.
PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups
Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls
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Connecting synthetic chemistry decisions to cell and genome biology using small-molecule phenotypic profiling.
PMID 19825513 · PMC2787914 · Current opinion in chemical biology · 2009 · 8 claims · 8 setups
Multidimensional phenotypic profiling leverages information content from multiple parallel or multiplexed measurements of compound action on cells, unlike hierarchical screening which filters to few 'interesting' compounds.
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Genomic diversity among drug sensitive and multidrug resistant isolates of Mycobacterium tuberculosis with identical DNA fingerprints.
PMID 19823582 · PMC2756628 · PloS one · 2009 · 8 claims · 8 setups
M. tuberculosis isolates with identical DNA fingerprints can harbour substantial genomic diversity at the whole-genome level
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Limited copy number-high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies.
PMID 19811662 · PMC2766370 · Molecular cancer · 2009 · 7 claims · 6 setups
LCN-HRM enables detection and sequencing-based characterisation of low-level mutations that are undetectable by direct sequencing alone
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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups
A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls
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Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.
PMID 19750224 · PMC2735778 · PLoS pathogens · 2009 · 7 claims · 5 setups
The IRGM −261TT genotype is negatively associated with (protective against) pulmonary TB caused by M. tuberculosis
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Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
PMID 19744353 · PMC2749023 · BMC medical genetics · 2009 · 8 claims · 6 setups
Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2
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Helicobacter Pylori's plasticity zones are novel transposable elements.
PMID 19727398 · PMC2731543 · PloS one · 2009 · 8 claims · 8 setups
Plasticity zones are a novel class of transposable elements (named TnPZs), flanked by direct repeats of 5'AAGAATG and inserted at multiple discrete chromosomal sites
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Visualization of shared genomic regions and meiotic recombination in high-density SNP data.
PMID 19696932 · PMC2725774 · PloS one · 2009 · 8 claims · 7 setups
SNPduo is a command-line (SNPduo++) and web-accessible tool that analyzes and visualizes relatedness between two individuals using identity by state (IBS) from SNP genotypes.
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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.
PMID 19668202 · PMC3661775 · Nature methods · 2009 · 8 claims · 8 setups
BreakDancer (BreakDancerMax + BreakDancerMini) is a software package that predicts a wide variety of structural variants including deletions, insertions, inversions, and intra/inter-chromosomal translocations from paired-end short-insert sequencing reads.
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Integrating proteomic, transcriptional, and interactome data reveals hidden components of signaling and regulatory networks.
PMID 19638617 · PMC2889494 · Science signaling · 2009 · 8 claims · 6 setups
Pathway reconstruction can be modeled as a prize-collecting Steiner tree problem, balancing penalties for excluding terminal nodes against costs for including edges, controlled by a parameter β.
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Ectopic expression of BEX genes in T-cell acute lymphoblastic leukemia.
PMID 40811813 · PMC12830129 · Blood advances · 2026 · 6 claims · 8 setups
Bex1 (and to a lesser extent Bex4) is ectopically expressed in Pten-deficient mouse T-ALL blasts
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CTCF's loop-independent functions prevail over chromatin looping in the acute degradation system.
PMID 41191909 · PMC13107559 · Protein & cell · 2026 · 8 claims · 8 setups
CTCF regulates Ppa2 and Zbtb39 expression through mechanisms independent of chromatin looping
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Integrated multi-omic atlas reveals the hierarchy of spatiotemporal regulatory networks of mouse gastrulation.
PMID 41526381 · PMC12902073 · Nature communications · 2026 · 8 claims · 8 setups
BioCRE, a novel bi-orientation regression algorithm, more accurately links genes to candidate cis-regulatory elements (CREs) than existing tools Signac and ArchR
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Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.
PMID 17088437 · PMC2705832 · Molecular cancer therapeutics · 2006 · 8 claims · 3 setups
137 oncogenic mutations were identified across 14 of 24 screened cancer genes (APC, BRAF, CDKN2A, CTNNB1, HRAS, KRAS, NRAS, SMAD4, PIK3CA, PTEN, RB1, STK11, TP53, VHL) in the NCI-60 panel
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Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.
PMID 17324265 · PMC1810516 · BMC medical genetics · 2007 · 8 claims · 3 setups
Developed a real-time TaqMan PCR method that quantifies PARK2 exon 1-12 copy number by comparing amplification signal to the β-globin internal control gene