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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Negotiating the boundary between medicine and consumer culture: online marketing of nutrigenetic tests.
PMID 20022680 · PMC2824846 · Social science & medicine (1982) · 2010 · 8 claims · 3 setups
Nutrigenetic testing companies create a new social/marketing space for their products positioned between medicine and consumer culture, rather than being simply delegitimized by boundary work.
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Genetic diversity of clinical isolates of Bacillus cereus using multilocus sequence typing.
PMID 18990211 · PMC2585095 · BMC microbiology · 2008 · 8 claims · 7 setups
The 55 clinical B. cereus isolates were phylogenetically diverse, comprising 38 sequence types (STs) distributed across two of three previously described clades.
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Public health genomics approach to type 2 diabetes.
PMID 18971439 · PMC2570384 · Diabetes · 2008 · 7 claims · 3 setups
Combining GWAS-discovered genetic variants provides only weak predictive ability for type 2 diabetes and adds little beyond established clinical risk factors (age, sex, BMI).
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Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains.
PMID 18590534 · PMC2481270 · BMC genomics · 2008 · 8 claims · 6 setups
B. pertussis strains carrying the ptxP3 allele gradually replaced ptxP1 strains and became predominant from 1998, coinciding with the Dutch pertussis resurgence
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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
PMID 18539534 · PMC2832754 · The Lancet. Neurology · 2008 · 8 claims · 7 setups
LRRK2-associated PD can be distinguished from idiopathic PD by a more benign motor and non-motor phenotype
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A spectrum of severe familial liver disorders associate with telomerase mutations.
PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups
Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.
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Genomic diversity and evolution of Mycobacterium ulcerans revealed by next-generation sequencing.
PMID 19806175 · PMC2736377 · PLoS pathogens · 2009 · 8 claims · 6 setups
Genome sequencing of three M. ulcerans strains (NM20/02, NM31/04, Jp8756) identified thousands of SNPs relative to reference strain Agy99
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Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.
PMID 16569242 · PMC1444927 · BMC medical genetics · 2006 · 7 claims · 4 setups
Linkage and haplotype analysis in the South African family are highly suggestive of linkage to the ARVC6 locus on chromosome 10p12-p14
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Pharmacogenomics of gemcitabine: can genetic studies lead to tailor-made therapy?
PMID 17595663 · PMC2360307 · British journal of cancer · 2007 · 8 claims · 14 setups
A SNP in the cytidine deaminase (CDA) gene (208G>A, haplotype *3) decreases gemcitabine clearance, increases Cmax/AUC, and increases neutropenia risk when gemcitabine is combined with platinum drugs or 5-FU
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Genetic distance and heterogenecity between quasispecies is a critical predictor to IFN response in Egyptian patients with HCV genotype-4.
PMID 17300723 · PMC1805740 · Virology journal · 2007 · 7 claims · 7 setups
Genetic distance and heterogeneity between HCV quasispecies is a critical predictor of IFN response in Egyptian genotype-4 patients
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Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.
PMID 19808432 · PMC2725366 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 7 setups
G1631D causes profound cardiac sodium channel dysfunction: markedly slowed inactivation (~10-fold), increased persistent current, depolarized voltage dependence of activation/inactivation, and slowed recovery from inactivation
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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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Nitric oxide and redox regulation in the liver: part II. Redox biology in pathologic hepatocytes and implications for intervention.
PMID 20400112 · PMC2907433 · The Journal of surgical research · 2011 · 8 claims · 8 setups
ROS/RNS generated during hepatic ischemia/reperfusion cause cellular damage via mitochondrial dysfunction, ATP depletion, ion disturbances, and membrane/lysosomal disruption
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Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists.
PMID 16351744 · PMC1866390 · BMC bioinformatics · 2005 · 5 claims · 3 setups
OMIM Clinical Synopsis free-text phenotype and location names can be normalized and hierarchically structured into a controlled vocabulary suitable for computational analysis
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Has reproduction · 87
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups
Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals
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Systems biology approaches for the study of multiple sclerosis.
PMID 18505469 · PMC3865652 · Journal of cellular and molecular medicine · 2008 · 8 claims · 8 setups
The MHC locus on chromosome 6p21 is the strongest genetic region linked to MS susceptibility.
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A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups
A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family
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Colorectal cancer genomics: evidence for multiple genotypes which influence survival.
PMID 11720434 · PMC2363933 · British journal of cancer · 2001 · 6 claims · 3 setups
Genetic grade (total number of CGH-detected gains+losses) varies greatly among Dukes' C CRC tumours and shows a multimodal (non-normal) distribution
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From single cells to whole organisms.
PMID 16420683 · PMC1414103 · Genome biology · 2005 · 8 claims · 8 setups
The genetic-interaction map in S. cerevisiae is roughly four times as complex as the protein-protein interaction map, and genetic interactions do not overlap with physical interactions but instead predict functional neighborhoods
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Has reproduction · 68
Positive Relationships between Intraocular Pressure and Thyroid Function in Graves' Ophthalmopathy: A Three-Aspect Evidence Analysis.
PMID 40992768 · PMC12479196 · Yonsei medical journal · 2025 · 7 claims · 5 setups
Thyroid function parameters (FT3, FT4) and disease activity (CAS) are significantly associated with elevated IOP in GO patients