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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Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
PMID 17223989 · PMC1859977 · Clinical endocrinology · 2007 · 7 claims · 5 setups
MC2R mutations can be found in children diagnosed with salt-losing forms of adrenal hypoplasia
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Has reproduction · 88
Severe COVID-19 Shares a Common Neutrophil Activation Signature with Other Acute Inflammatory States.
PMID 35269470 · PMC8909161 · Cells · 2022 · 7 claims · 7 setups
COVID-19 and HLH share immunological pathways, yielding 237 common up-regulated DEGs dominated by cytokine/chemokine signaling and neutrophil-mediated immune responses.
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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups
Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)
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Has reproduction · 40
On the holobiont 'predictome' of immunocompetence in pigs.
PMID 37127575 · PMC10150480 · Genetics, selection, evolution : GSE · 2023 · 8 claims · 8 setups
Holobiont (combined genotype + microbiome) models performed better than partial models (genotype-only or microbiome-only) overall
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Nutrigenomics: the genome--food interface.
PMID 18087577 · PMC2137135 · Environmental health perspectives · 2007 · 8 claims · 8 setups
Nutrigenomics integrates genomic science with nutrition to study how dietary components affect gene expression, the proteome, and the metabolome.
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A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups
NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay
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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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The PeptideAtlas project.
PMID 16381952 · PMC1347403 · Nucleic acids research · 2006 · 8 claims · 5 setups
PeptideAtlas provides an automated repository that identifies peptides by MS/MS, statistically validates identifications, and maps them to eukaryotic genomes to enable data exchange and integration with genomic data.
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups
INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype