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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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups
Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472
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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups
Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)
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Automatic annotation of eukaryotic genes, pseudogenes and promoters.
PMID 16925832 · PMC1810547 · Genome biology · 2006 · 8 claims · 6 setups
Fgenesh++ gene prediction pipeline identifies 91% of coding nucleotides with 90% specificity
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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups
All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism
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Association of Escherichia coli O157:H7 tir polymorphisms with human infection.
PMID 17718910 · PMC2063500 · BMC infectious diseases · 2007 · 8 claims · 6 setups
tir polymorphisms 255 T>A and RR1-RU3 (presence/absence) associate strongly with human vs bovine isolate source
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High-precision mapping of protein protein interfaces: an integrated genetic strategy combining en masse mutagenesis and DNA-level parallel analysis on a yeast two-hybrid platform.
PMID 17702760 · PMC2018616 · Nucleic acids research · 2007 · 7 claims · 4 setups
An integrated strategy combining en masse pentapeptide insertion mutagenesis, yeast two-hybrid screening, and parallel genetic footprinting can map protein-protein interfaces at amino acid precision and is generally applicable to any interacting protein pair.
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A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.
PMID 17686168 · PMC1995191 · BMC medical genetics · 2007 · 7 claims · 5 setups
A novel mutation c.49C>T (p.Pro17Ser) in exon 1 of DSPP causes type II DGI in this Chinese family.
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Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients.
PMID 17626639 · PMC1952070 · BMC cancer · 2007 · 7 claims · 4 setups
EGFR mutations (exon 19 deletions, exon 21 L858R) did not correlate with gefitinib response in this cohort
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Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis.
PMID 17587445 · PMC1913537 · BMC genetics · 2007 · 6 claims · 4 setups
CCR7 gene variants occur at extremely low frequency (allelic frequencies ≤5%) in the German population
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A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.
PMID 17517145 · PMC1890544 · BMC medical genetics · 2007 · 7 claims · 6 setups
A novel heterozygous missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in affected family members but not in 100 controls (200 chromosomes)
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Altered spin state equilibrium in the T309V mutant of cytochrome P450 2D6: a spectroscopic and computational study.
PMID 17318599 · PMC1915625 · Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2007 · 7 claims · 7 setups
The T309V mutation shifts the CYP2D6 heme spin equilibrium toward the six-coordinate low-spin (6cLS) state, decreasing the five-coordinate high-spin (5cHS) fraction relative to wild type.
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A distinct epigenetic signature at targets of a leukemia protein.
PMID 17266773 · PMC1796549 · BMC genomics · 2007 · 7 claims · 7 setups
Combining gene expression microarray analysis with bioinformatic search for AML1-consensus sequences identifies direct AML1 targets that expression analysis alone cannot resolve
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Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats.
PMID 17264116 · PMC1851657 · Nucleic acids research · 2007 · 8 claims · 4 setups
Cruciform extrusion propensity of PATRRs depends on both length and central symmetry of the repeat.
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A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups
A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01
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Genome-scale validation of deep-sequencing libraries.
PMID 19002256 · PMC2577887 · PloS one · 2008 · 6 claims · 4 setups
Mab-seq allows a small aliquot of a ChIP-seq sequencing library to be labeled and hybridized to commercial microarrays for quality control before deep sequencing, without compromising the library for subsequent sequencing.
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A highly polymorphic insertion in the Y-chromosome amelogenin gene can be used for evolutionary biology, population genetics and sexing in Cetacea and Artiodactyla.
PMID 18925953 · PMC2580767 · BMC genetics · 2008 · 8 claims · 6 setups
A 460–465 bp insertion is present in intron 4 of the Amel-Y locus in most Cetartiodactyla lineages (cetaceans and ruminants) but absent in pig
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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
PMID 18818683 · PMC2756756 · Kidney international · 2008 · 8 claims · 8 setups
Developed an MLPA assay with PKD1 exon 1-33 probes designed at single base-pair mismatches with the six PKD1 pseudogenes to achieve locus specificity
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Tags for labeling protein N-termini with subtiligase for proteomics.
PMID 18762420 · PMC2590642 · Bioorganic & medicinal chemistry letters · 2008 · 6 claims · 4 setups
Arginine-rich peptide esters (3, 4, 5) are markedly more soluble than the original TEVest2 ester (1) and give significantly higher N-terminal tagging of proteins by subtiligase at higher concentrations.
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Ankyrin-linked hereditary spherocytosis in an African-American kindred.
PMID 18704959 · PMC11304496 · American journal of hematology · 2008 · 6 claims · 7 setups
A novel heterozygous initiator methionine mutation (ATG→ATA, Met1Ile), termed ankyrin New Haven, was identified in exon 1 of the ankyrin-1 gene as the cause of HS in this kindred.
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Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations.
PMID 18694524 · PMC2525636 · BMC biotechnology · 2008 · 8 claims · 4 setups
The mismatch-specific endonuclease method achieved 100% sensitivity and specificity for identifying HBB gene mutations in the study sample.