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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N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.
PMID 18402670 · PMC2330028 · BMC medical genetics · 2008 · 7 claims · 6 setups
NAT8 is a novel positional candidate gene for blood pressure and renal function based on its chromosomal location within a BP linkage region and its expression in embryonic/adult kidney and liver
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No evidence of a Neanderthal contribution to modern human diversity.
PMID 18304371 · PMC2374707 · Genome biology · 2008 · 8 claims · 7 setups
There is no evidence of any Neanderthal contribution to modern human genetic diversity
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Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.
PMID 18270997 · PMC2909109 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups
The G/A and A/A genotypes of G472A (Val158Met) are point-wise significantly associated with opiate addiction in Hispanic women but not men (P=0.049)
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Individual and additive effects of the CNR1 and FAAH genes on brain response to marijuana cues.
PMID 20010552 · PMC2820137 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2010 · 6 claims · 4 setups
Carriers of the CNR1 rs2023239 G allele show significantly greater neural activation to marijuana cues than A/A homozygotes in reward-related regions (OFC, IFG, insula, ACG).
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SuperCYP: a comprehensive database on Cytochrome P450 enzymes including a tool for analysis of CYP-drug interactions.
PMID 19934256 · PMC2808967 · Nucleic acids research · 2010 · 8 claims · 6 setups
SuperCYP is a comprehensive relational database aggregating CYP enzyme, drug metabolism, SNP/mutation, and structural information from literature and web resources.
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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups
Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains
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Catalogues of mammalian long noncoding RNAs: modest conservation and incompleteness.
PMID 19895688 · PMC3091318 · Genome biology · 2009 · 8 claims · 6 setups
MacroRNA and lincRNA exons are subject to the same relatively low degree of sequence constraint, contrary to prior reports that lincRNAs are far more conserved
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Timing constraints of in vivo gag mutations during primary HIV-1 subtype C infection.
PMID 19890401 · PMC2768328 · PloS one · 2009 · 7 claims · 7 setups
Reverse mutations to the wild type (HIV-1C consensus) in Gag appear significantly earlier than escape mutations from the wild type during primary infection
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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Genetic variation in PARL influences mitochondrial content.
PMID 19862556 · PMC2829432 · Human genetics · 2010 · 7 claims · 5 setups
PARL is a key regulator of mitochondrial integrity and function and plays a role in cellular apoptosis
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Multilocus sequence typing of Cronobacter sakazakii and Cronobacter malonaticus reveals stable clonal structures with clinical significance which do not correlate with biotypes.
PMID 19852808 · PMC2770063 · BMC microbiology · 2009 · 8 claims · 6 setups
A seven-locus MLST scheme (atpD, fusA, glnS, gltB, gyrB, infB, pps) reliably identifies and discriminates C. sakazakii and C. malonaticus strains
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Genetic characterization of 2006-2008 isolates of Chikungunya virus from Kerala, South India, by whole genome sequence analysis.
PMID 19851853 · PMC7088544 · Virus genes · 2010 · 8 claims · 7 setups
37 novel mutations were identified across the six sequenced CHIKV genomes, predominantly in 2007 and 2008 isolates
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Evolutionary dynamics of human rotaviruses: balancing reassortment with preferred genome constellations.
PMID 19851457 · PMC2760143 · PLoS pathogens · 2009 · 8 claims · 4 setups
Genetically distinct RV clades of the same G/P-type (G3P[8]) can co-circulate within a single epidemic season and cause disease
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Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy.
PMID 19842929 · PMC2923222 · Pharmacogenomics · 2009 · 8 claims · 8 setups
Approximately 15-20% of nonsynonymous variants in membrane transporters exhibit reduced function
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The D2 dopamine receptor gene and nicotine dependence among bladder cancer patients and controls.
PMID 19842028 · PMC3719969 · Behavior genetics · 2010 · 8 claims · 5 setups
Among ever-smoking controls, A1 and B1 genotypes were associated with greater smoking intensity and younger age at smoking initiation than A2A2/B2B2
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Genomic diversity of oseltamivir-resistant influenza virus A (H1N1), Luxembourg, 2007-08.
PMID 19788831 · PMC2819849 · Emerging infectious diseases · 2009 · 8 claims · 5 setups
NA gene sequences of oseltamivir-resistant viruses (ORVs) form a distinct phylogenetic cluster separate from oseltamivir-sensitive viruses (OSVs)
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Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups
Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair
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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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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups
GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss
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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.