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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Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.
PMID 16502494 · PMC2687569 · Yonsei medical journal · 2006 · 8 claims · 6 setups
Two patients with congenital nephrogenic diabetes insipidus (NDI) presented with severe bilateral hydronephrosis, megaureter, and a distended bladder in the absence of any urinary tract obstruction.
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Proteomic profiling of urine identifies specific fragments of SERPINA1 and albumin as biomarkers of preeclampsia.
PMID 18984079 · PMC2679897 · American journal of obstetrics and gynecology · 2008 · 8 claims · 7 setups
Women with severe preeclampsia present a unique urinary proteomic fingerprint distinguishable from controls.
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Incorporating genetics and genomics in risk assessment for inhaled manganese: from data to policy.
PMID 19646473 · PMC2765692 · Neurotoxicology · 2009 · 8 claims · 7 setups
Inhaled manganese bypasses normal homeostatic regulation and can accumulate in the brain, unlike dietary manganese which is readily excreted
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Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
PMID 16361827 · PMC2779314 · Journal of Korean medical science · 2005 · 8 claims · 5 setups
The patient carries a compound heterozygous missense mutation in AQP2: A70D (exon 1, paternal) and R187H (exon 3, maternal)
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Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups
The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.