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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G-quadruplexes: the beginning and end of UTRs.
PMID 18832370 · PMC2577360 · Nucleic acids research · 2008 · 8 claims · 5 setups
UTRs show significant strand asymmetry with C-PQS more common than G-PQS, consistent with general depletion of G-quadruplex-forming RNA
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Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios.
PMID 18831757 · PMC2572624 · BMC bioinformatics · 2008 · 6 claims · 4 setups
A dye intensity bias between the two channels (X/Y, Cy5/Cy3) of the Infinium II assay remains after BeadStudio's proprietary normalization.
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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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High quality catalog of proteotypic peptides from human heart.
PMID 18803417 · PMC2765113 · Journal of proteome research · 2008 · 8 claims · 4 setups
A catalog of 4476 proteotypic peptides representing 2558 human heart proteins was generated from MudPIT analyses of nonfailing and failing left-ventricular explants
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BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis?
PMID 18782444 · PMC2553419 · BMC cancer · 2008 · 8 claims · 7 setups
KRAS, BRAF and PIK3CA mutations occur in the majority of colorectal polyps and are mutually exclusive
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Developmental and genetic regulation of human surfactant protein B in vivo.
PMID 18776725 · PMC2765709 · Neonatology · 2009 · 8 claims · 7 setups
Pro-SP-B peptides are more common in developmentally less mature humans (amniotic fluid, neonatal tracheal aspirates) than in adults
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"Reverse ecology" and the power of population genomics.
PMID 18752601 · PMC2626434 · Evolution; international journal of organic evolution · 2008 · 8 claims · 7 setups
Population genomic data can be used to rapidly identify genes targeted by adaptive natural selection, an approach termed 'reverse ecology'.
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Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).
PMID 18717728 · PMC7254873 · European journal of neurology · 2008 · 8 claims · 4 setups
Spatacsin (SPG11) mutations are a frequent cause of complex ARHSP, occurring in 3 of 8 screened families
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Alkyltransferase-mediated toxicity of 1,3-butadiene diepoxide.
PMID 18712882 · PMC2614079 · Chemical research in toxicology · 2008 · 8 claims · 6 setups
hAGT expression increases mutations and cytotoxicity following BDO exposure, and hAGT-DNA cross-links form in the presence of BDO
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
PMID 18704501 · PMC2525844 · Human genetics · 2008 · 6 claims · 5 setups
Next-generation (Roche/454) resequencing of 136 kb at 8q24 in 39 prostate cancer cases and 40 controls generated a comprehensive catalog of common SNPs (MAF>1%), including 442 novel SNPs
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Natural variation of HIV-1 group M integrase: implications for a new class of antiretroviral inhibitors.
PMID 18687142 · PMC2546438 · Retrovirology · 2008 · 7 claims · 6 setups
Integrase displays significantly less inter- and intra-subtype amino acid diversity and lower Shannon's entropy than protease or RT.
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Pathogenic mitochondrial DNA mutations are common in the general population.
PMID 18674747 · PMC2495064 · American journal of human genetics · 2008 · 7 claims · 6 setups
At least 1 in 200 healthy humans harbors a pathogenic mtDNA mutation with potential to cause disease in offspring of female carriers
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Genotypic analysis of two hypervariable human cytomegalovirus genes.
PMID 18649324 · PMC2658010 · Journal of medical virology · 2008 · 8 claims · 8 setups
UL146 sequences from 184 samples fall into the same 14 genotypes (G1-G14) previously defined, with no new genotypes found.
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Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups
A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant
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Current and future directions in genomics of amyotrophic lateral sclerosis.
PMID 18625410 · PMC3524513 · Physical medicine and rehabilitation clinics of North America · 2008 · 8 claims · 8 setups
Familial ALS (FALS, 5-10% of cases) follows Mendelian autosomal dominant inheritance, with 20% caused by SOD1 mutations and 80% by unknown mutations
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Mutational specificity of gamma-radiation-induced guanine-thymine and thymine-guanine intrastrand cross-links in mammalian cells and translesion synthesis past the guanine-thymine lesion by human DNA polymerase eta.
PMID 18616294 · PMC2646719 · Biochemistry · 2008 · 8 claims · 6 setups
Both G[8,5-Me]T and T[5-Me,8]G intrastrand cross-links are strongly mutagenic in COS-7 and 293T mammalian cells
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Massively parallel pyrosequencing in HIV research.
PMID 18614863 · PMC4221253 · AIDS (London, England) · 2008 · 8 claims · 8 setups
Massively parallel pyrosequencing platforms (454/Roche, Solexa/Illumina) enable very high-throughput DNA sequencing, up to ~1 billion bases per run
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Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?
PMID 18557994 · PMC2481495 · Breast cancer research : BCR · 2008 · 8 claims · 8 setups
Mutation frequencies in ATM, BRIP1, PALB2 and CHEK2 are many times higher in women with strong breast cancer family history (familial cases) than in population controls.
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Programmed genetic instability: a tumor-permissive mechanism for maintaining the evolvability of higher species through methylation-dependent mutation of DNA repair genes in the male germ line.
PMID 18535014 · PMC2464741 · Molecular biology and evolution · 2008 · 8 claims · 7 setups
Repair genes are numerically less common than apoptosis genes in the genomes of multicellular organisms
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Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans.
PMID 18510744 · PMC2424074 · BMC genetics · 2008 · 7 claims · 4 setups
Sequencing the TPI1 locus in 357 German long-lived individuals identified 17 polymorphisms, 15 of which were rare and previously unknown