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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The fate of the duplicated androgen receptor in fishes: a late neofunctionalization event?
PMID 19094205 · PMC2637867 · BMC evolutionary biology · 2008 · 8 claims · 4 setups
AR was duplicated into two paralogs, AR-A and AR-B, during a teleost-specific whole genome duplication (WGD), after the split of Acipenseriformes but before the divergence of Osteoglossiformes.
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Genotype differences in cognitive functioning in Noonan syndrome.
PMID 19077116 · PMC2760992 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups
Genotype differences account for some of the variation in cognitive ability in Noonan syndrome
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Integrated multi-level quality control for proteomic profiling studies using mass spectrometry.
PMID 19055809 · PMC2657802 · BMC bioinformatics · 2008 · 7 claims · 5 setups
QC processes for identifying and removing low-quality spectra are often overlooked in proteomic profiling studies
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Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.
PMID 18997096 · PMC4836613 · Investigative ophthalmology & visual science · 2009 · 7 claims · 8 setups
High T8993C mutant load (>77%) is associated with severe neurologic and/or retinal abnormalities, while low mutant load (42-54%) causes no detectable abnormalities.
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Proteomic profiling of gamma-secretase substrates and mapping of substrate requirements.
PMID 18942891 · PMC2570425 · PLoS biology · 2008 · 8 claims · 5 setups
An unbiased SILAC-based proteomic screen identified a relatively small cohort of γ-secretase substrates among thousands of proteins in HeLa cells, all of which are type I transmembrane proteins.
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Proteomics-based identification of novel factor inhibiting hypoxia-inducible factor (FIH) substrates indicates widespread asparaginyl hydroxylation of ankyrin repeat domain-containing proteins.
PMID 18936059 · PMC2649815 · Molecular & cellular proteomics : MCP · 2009 · 8 claims · 5 setups
DMOG pretreatment acts as a pharmacological 'substrate trap' that stabilizes transient FIH-substrate interactions, enabling their identification by SILAC-based proteomics
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Population genomics: diversity and virulence in the Neisseria.
PMID 18822386 · PMC2612085 · Current opinion in microbiology · 2008 · 8 claims · 8 setups
Horizontal genetic exchange (recombination) plays a central role in shaping bacterial speciation and population structure in Neisseria
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A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups
A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients
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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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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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Mutations in the C-terminus of the X protein of hepatitis B virus regulate Wnt-5a expression in hepatoma Huh7 cells: cDNA microarray and proteomic analyses.
PMID 18477650 · PMC2443277 · Carcinogenesis · 2008 · 8 claims · 7 setups
HBx C-terminal deletion mutants (HBx3'-30 and HBx3'-40) produce differentially expressed gene and protein profiles in transfected Huh7 HCC cells, mostly involving transcriptional regulation, oncogenes/tumor suppressors, cell junctions, signal transduction, metabolism and immune response
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Variation in the Neisseria lactamica porin, and its relationship to meningococcal PorB.
PMID 18451061 · PMC2885628 · Microbiology (Reading, England) · 2008 · 8 claims · 6 setups
N. lactamica por is less diverse than meningococcal porB2 and porB3
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Genetic determinants of virulence in pathogenic lineage 2 West Nile virus strains.
PMID 18258114 · PMC2600181 · Emerging infectious diseases · 2008 · 8 claims · 7 setups
The nonstructural genes, especially NS5, are the most variable regions between highly and less neuroinvasive lineage 2 WNV strains
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DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
PMID 18254956 · PMC2270804 · BMC medical genetics · 2008 · 8 claims · 5 setups
Three LOXL1 SNPs previously associated with pseudoexfoliation in Nordic populations are significantly associated with pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a U.S. ethnically diverse population
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A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
PMID 19958498 · PMC2788387 · BMC genomics · 2009 · 8 claims · 4 setups
Comparative homology modeling of wild-type and mutant α-mannosidase across human, cow, cat and guinea pig reveals a significant correlation between genotype severity and phenotype severity in α-mannosidosis
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PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.
PMID 20035629 · PMC2806268 · BMC medical genetics · 2009 · 8 claims · 7 setups
All UK vCJD cases tested (147/147) are methionine homozygous (MM) at PRNP codon 129
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A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
PMID 19956411 · PMC2786888 · Molecular vision · 2009 · 6 claims · 7 setups
A novel de novo heterozygous nonsense mutation (c.413C>G, p.S138X) in OTX2 causes an early onset retinal dystrophy accompanied by pituitary dysfunction (growth hormone deficiency)
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Technical challenges in using human induced pluripotent stem cells to model disease.
PMID 19951687 · PMC2921621 · Cell stem cell · 2009 · 8 claims · 8 setups
hiPSCs generated from patient somatic cells (skin, blood) can be differentiated into disease-relevant cell types to model disease pathogenesis in vitro
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New generic primer system targeting mucosal/genital and cutaneous human papillomaviruses leads to the characterization of HPV 115, a novel Beta-papillomavirus species 3.
PMID 19948351 · PMC2813930 · Virology · 2010 · 8 claims · 8 setups
The new CUT primer system detects a broader range of HPV genera/species and novel putative types than the FAP primer system (p<0.01)
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Construction of a high-resolution genetic linkage map and comparative genome analysis for the reef-building coral Acropora millepora.
PMID 19900279 · PMC3091320 · Genome biology · 2009 · 8 claims · 6 setups
This is the first genetic linkage map constructed for any coral species or any non-Bilaterian animal