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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Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid.
PMID 15841082 · PMC2361763 · British journal of cancer · 2005 · 8 claims · 5 setups
Somatic missense GRIM-19 mutations occur in a subset of sporadic Hürthle cell carcinomas but not in non-Hürthle cell thyroid carcinomas or blood donors
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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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Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas.
PMID 15083190 · PMC2410274 · British journal of cancer · 2004 · 8 claims · 2 setups
Somatic k-ras mutations occur in 9 of 54 (16.7%) MYH polyposis colorectal tumours, with frequency increasing with degree of dysplasia.
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Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.
PMID 14735200 · PMC2409576 · British journal of cancer · 2004 · 8 claims · 2 setups
Seven germline INK4a-ARF changes (five novel) were found in 7 of 89 patients (8%) suspected of genetic predisposition to melanoma.
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Expression in human prostate of drug- and carcinogen-metabolizing enzymes: association with prostate cancer risk.
PMID 9823980 · PMC2063181 · British journal of cancer · 1998 · 7 claims · 5 setups
CYP2D6, CYP3A, and an N-acetyltransferase enzyme activity are functionally expressed in human prostate tissue
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Genetic and biochemical studies in Argentinean patients with variegate porphyria.
PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups
All 18 studied VP patients harbored PPOX gene mutations in heterozygous state
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A novel approach for rapid screening of mitochondrial D310 polymorphism.
PMID 16433919 · PMC1388229 · BMC cancer · 2006 · 7 claims · 4 setups
A single-step BsaXI RFLP assay can rapidly determine 7-C carriers at the D310 first polyC stretch of mtDNA without sequencing
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Rapid detection of allele loss in colorectal tumours using microsatellites and fluorescent DNA technology.
PMID 8512811 · PMC1968523 · British journal of cancer · 1993 · 6 claims · 3 setups
Fluorescently labelled microsatellite PCR products analysed on an automated DNA sequencer allow rapid, automated quantitation (peak size, height, area) of allele loss, avoiding drawbacks of radioactive RFLP analysis.
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Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms' tumor.
PMID 10772697 · PMC11166235 · Sao Paulo medical journal = Revista paulista de medicina · 2000 · 7 claims · 3 setups
Point mutations of the p53 gene (exons 5-9) were not detected in any of the 10 Wilms' tumor samples studied
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New approaches to the analysis of palindromic sequences from the human genome: evolution and polymorphism of an intronic site at the NF1 locus.
PMID 16340004 · PMC1310899 · Nucleic acids research · 2005 · 7 claims · 8 setups
Long pure palindromes (>~200 bp) cannot be stably cloned in E.coli due to cruciform-driven instability, and no E.coli mutant fully overcomes this cloning block.
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Multiplexed genetic analysis using an expanded genetic alphabet.
PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups
MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h
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High incidence of human bocavirus infection in children in Spain.
PMID 17904416 · PMC7108365 · Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology · 2007 · 8 claims · 6 setups
HBoV is a significant contributor to acute lower respiratory tract infection in young children in Spain
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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups
dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation
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Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes.
PMID 17406619 · PMC2688820 · Nature protocols · 2007 · 8 claims · 7 setups
Combining three human-optimized DOP-PCR primers before a secondary amino-labeled PCR increases array hybridization sensitivity and reproducibility sixfold compared to the standard 6MW DOP-PCR primer
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The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.
PMID 11161380 · PMC2363702 · British journal of cancer · 2001 · 7 claims · 7 setups
No CDX2 mutations predisposing to sporadic colorectal cancer were identified
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Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.
PMID 15598343 · PMC544190 · BMC genetics · 2004 · 6 claims · 4 setups
A novel TaqMan allelic discrimination assay can reliably genotype the MnSOD -102C>T SNP from diverse DNA sources including blood, buccal swabs, frozen tissue, and paraffin blocks.
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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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Genomic variability within an organism exposes its cell lineage tree.
PMID 16261192 · PMC1274291 · PLoS computational biology · 2005 · 8 claims · 5 setups
Somatic mutations accumulated during normal development implicitly encode an organism's entire cell lineage tree with very high precision.
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Human stool contains a previously unrecognized diversity of novel astroviruses.
PMID 19814825 · PMC2765957 · Virology journal · 2009 · 8 claims · 8 setups
Human stool contains a previously unrecognized diversity of astroviruses beyond the classic 8 serotypes and AstV-MLB1/AstV-VA1
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Immuno-detection by sequencing enables large-scale high-dimensional phenotyping in cells.
PMID 29921844 · PMC6008431 · Nature communications · 2018 · 8 claims · 8 setups
ID-seq combines DNA-tagged antibodies with high-throughput sequencing to enable large-scale, high-dimensional, multiplexed (phospho-)protein phenotyping in fixed cell populations across many samples in parallel.