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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Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia.
PMID 17264398 · PMC3850613 · Disease markers · 2006 · 7 claims · 4 setups
Significant associations (p ≤ 0.01) were found between BPD subgroups and alleles of SP-B and SP-B-linked microsatellite markers, and haplotypes of SP-A, SP-D, and SP-B
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Predicting candidate genes for human deafness disorders: a bioinformatics approach.
PMID 16854223 · PMC1564145 · BMC genomics · 2006 · 8 claims · 4 setups
A bioinformatic approach combining expression databases and protein interaction data narrows ~2400 candidate genes across deafness loci to a manageable set of candidates.
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Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.
PMID 16839184 · PMC1500809 · PLoS genetics · 2006 · 8 claims · 8 setups
Cre/loxP recombination in ES cells can generate megabase-scale deletions, duplications, and inversions depending on loxP orientation, cis/trans configuration, and cell cycle stage
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Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups
CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.
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WNT10B mutations in human obesity.
PMID 16477437 · PMC4304000 · Diabetologia · 2006 · 8 claims · 8 setups
The WNT10B C256Y missense mutation abrogates the protein's ability to activate canonical WNT signalling and block adipogenesis
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Mutations of the Igbeta gene cause agammaglobulinemia in man.
PMID 17709424 · PMC2118692 · The Journal of experimental medicine · 2007 · 6 claims · 5 setups
A homozygous nonsense mutation (Gln80X) in the Igβ (B29) gene causes agammaglobulinemia in a human patient
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Using comparative genomics to reorder the human genome sequence into a virtual sheep genome.
PMID 17663790 · PMC2323240 · Genome biology · 2007 · 8 claims · 6 setups
A sheep BAC library (CHORI-243) with ~13.5-fold genome coverage was constructed and end-sequenced.
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Incorporation of genetic model parameters for cost-effective designs of genetic association studies using DNA pooling.
PMID 17634103 · PMC1947971 · BMC genomics · 2007 · 8 claims · 4 setups
A closed-form approximation to the F-test non-centrality parameter (NCP) incorporating genetic model parameters (disease allele frequency, marker allele frequency, prevalence, genotype relative risk, sample size, genetic model, number of pools/replicates, machine variability) can be used to compute power for DNA pooling association studies
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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
PMID 17511870 · PMC1888713 · BMC genetics · 2007 · 8 claims · 5 setups
Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A
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Analysis of proteomic profiles and functional properties of human peripheral blood myeloid dendritic cells, monocyte-derived dendritic cells and the dendritic cell-like KG-1 cells reveals distinct characteristics.
PMID 17331236 · PMC1868942 · Genome biology · 2007 · 8 claims · 8 setups
moDCs and KG-1 cells show significant proteomic differences from primary mDCs, particularly in proteins involved in cell growth/maintenance and cell-cell interaction/integrity.
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Tissue microarrays characterise the clinical significance of a VEGF-A protein expression signature in gastrointestinal stromal tumours.
PMID 17299397 · PMC2360083 · British journal of cancer · 2007 · 8 claims · 5 setups
A combined VEGF-A ligand and flt-1 receptor protein expression signature discriminates malignant from benign GIST
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Is replication the gold standard for validating genome-wide association findings?
PMID 19112512 · PMC2605260 · PloS one · 2008 · 8 claims · 4 setups
The probability of replicating a specific GWA-identified variant decreases as the number of independent GWA/replication studies increases, when individual study power is less than 100%.
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Interaction between two independent CNR1 variants increases risk for cocaine dependence in European Americans: a replication study in family-based sample and population-based sample.
PMID 19052543 · PMC2879626 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009 · 8 claims · 8 setups
The interaction between SNP3^G+ genotypes and SNP8^T/T genotype significantly increases risk for cocaine dependence in EA family and EA case-control samples.
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A methodological framework for the reconstruction of contiguous regions of ancestral genomes and its application to mammalian genomes.
PMID 19043541 · PMC2580819 · PLoS computational biology · 2008 · 8 claims · 5 setups
A general model-free methodological framework is proposed for reconstructing Contiguous Ancestral Regions (CARs) from conserved syntenies, generalizing prior computational and cytogenetic approaches
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Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis.
PMID 18929582 · PMC2599865 · Mutation research · 2008 · 8 claims · 5 setups
Overall MSY1 mutation frequencies in sperm (2.68%) and blood (1.88%) are not significantly different
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HIT: a versatile proteomics platform for multianalyte phenotyping of cytokines, intracellular proteins and surface molecules.
PMID 18849997 · PMC3334282 · Nature medicine · 2008 · 8 claims · 8 setups
HIT uses oligonucleotide-tagged (Fab- or mSA-conjugated) antibodies, T7 polymerase amplification, and DNA microarray hybridization to indirectly measure multiple analytes in a fluid-phase multiplex format
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Genomics and proteomics of immune modulatory effects of a butanol fraction of echinacea purpurea in human dendritic cells.
PMID 18847511 · PMC2571112 · BMC genomics · 2008 · 8 claims · 8 setups
[BF/S+L/Ep] butanol fraction from E. purpurea enhances maturation of human immature dendritic cells (increased CD83 expression)
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Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.
PMID 18836565 · PMC2556974 · Molecular vision · 2008 · 8 claims · 5 setups
Haplotype association analysis refines the BCSE-linked region on BTA18 to a 6.82 Mb interval spanning 56.05–62.87 Mb
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GABRG1 and GABRA2 as independent predictors for alcoholism in two populations.
PMID 18818659 · PMC2656604 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009 · 8 claims · 8 setups
GABRG1 SNPs and haplotypes are significantly associated with alcohol use disorder (AUD) in both Finnish Caucasians and Plains American Indians
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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups
Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients