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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Genome annotation errors in pathway databases due to semantic ambiguity in partial EC numbers.
PMID 16034025 · PMC1179732 · Nucleic acids research · 2005 · 7 claims · 4 setups
Partial EC numbers are semantically ambiguous, and databases that assign a gene to all reactions sharing the same partial EC number make a faulty inference, causing systematic misannotation.
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Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups
The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.
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Automatic discovery of cross-family sequence features associated with protein function.
PMID 16409628 · PMC1395344 · BMC bioinformatics · 2006 · 8 claims · 6 setups
A self-supervised data mining approach can find relationships between sequence features and functional annotations without preconceived functional categories.
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EPD in its twentieth year: towards complete promoter coverage of selected model organisms.
PMID 16381980 · PMC1347508 · Nucleic acids research · 2006 · 7 claims · 4 setups
EPD is an annotated, non-redundant collection of experimentally defined eukaryotic POL II promoters accessed via genome position pointers.
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Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours.
PMID 17940511 · PMC2360241 · British journal of cancer · 2007 · 8 claims · 4 setups
Treatment of neuroblastoma cell lines with the HDAC inhibitor trichostatin A (TSA) increased transcription of ERRFI1, PIK3CD, RBP7 and CASZ1, indicating possible epigenetic downregulation of these genes in NB
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Mutations in NYX of individuals with high myopia, but without night blindness.
PMID 17392683 · PMC2642916 · Molecular vision · 2007 · 7 claims · 5 setups
Two novel NYX missense mutations (Cys48Trp and Arg191Gln) were found in unrelated males with high myopia but no night blindness.
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A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups
A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred
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Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
PMID 17223989 · PMC1859977 · Clinical endocrinology · 2007 · 7 claims · 5 setups
MC2R mutations can be found in children diagnosed with salt-losing forms of adrenal hypoplasia
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Proteomic analysis of tumor necrosis factor-alpha resistant human breast cancer cells reveals a MEK5/Erk5-mediated epithelial-mesenchymal transition phenotype.
PMID 19087274 · PMC2656902 · Breast cancer research : BCR · 2008 · 8 claims · 7 setups
MEK5 over-expression promotes a TNF-α resistance phenotype in MCF-7 breast cancer cells
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High-throughput chromatin information enables accurate tissue-specific prediction of transcription factor binding sites.
PMID 18988630 · PMC2662491 · Nucleic acids research · 2009 · 8 claims · 8 setups
Incorporating H3K4me3 chromatin modification estimates greatly improves the accuracy of in silico prediction of in vivo TF binding for a wide range of TFs in human and mouse
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Brain-specific proteins decline in the cerebrospinal fluid of humans with Huntington disease.
PMID 18984577 · PMC2649809 · Molecular & cellular proteomics : MCP · 2009 · 8 claims · 6 setups
Brain-specific proteins are 1.8 times more likely to be observed in CSF than in plasma
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Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis.
PMID 18929582 · PMC2599865 · Mutation research · 2008 · 8 claims · 5 setups
Overall MSY1 mutation frequencies in sperm (2.68%) and blood (1.88%) are not significantly different
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A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups
A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.
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Analysis of copy number variation using quantitative interspecies competitive PCR.
PMID 18697816 · PMC2553599 · Nucleic acids research · 2008 · 7 claims · 6 setups
qicPCR uses the entire genome of a single chimpanzee as a competitor, requiring only one reference sample for all assays and enabling large-scale multiplexing
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Bayesian survival analysis in genetic association studies.
PMID 18617538 · PMC2530885 · Bioinformatics (Oxford, England) · 2008 · 7 claims · 5 setups
A novel Bayesian method (BETA-Surv) extends prior case-control haplotype-clustering work to censored survival outcomes by clustering haplotypes via gene tree/perfect phylogeny topology and relative mutation age.
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Detection of mutations in EGFR in circulating lung-cancer cells.
PMID 18596266 · PMC3551471 · The New England journal of medicine · 2008 · 8 claims · 7 setups
The CTC-chip microfluidic device isolates CTCs from NSCLC patients in sufficient quantity and purity to permit EGFR mutational analysis
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Genetics of autistic disorders: review and clinical implications.
PMID 19941018 · PMC2839494 · European child & adolescent psychiatry · 2010 · 8 claims · 8 setups
AD are predominantly genetically determined disorders with heritability of around 90%.
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Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups
Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.
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Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network.
PMID 19728866 · PMC2768980 · Genome biology · 2009 · 6 claims · 6 setups
Integrating 16 genomic features (32 sub-features) via a naïve Bayes classifier produces a genome-scale FLN of 21,657 human genes and 22,388,609 weighted links that outperforms any individual data source for inferring functional linkages.
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Mouse-specific tandem IgY7-SuperMix immunoaffinity separations for improved LC-MS/MS coverage of the plasma proteome.
PMID 19722698 · PMC2783519 · Journal of proteome research · 2009 · 7 claims · 6 setups
Tandem IgY7-SuperMix separation nearly doubles overall proteome coverage compared to IgY7 flow-through alone (523 vs 263 confidently identified proteins)