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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The proteogenomic path towards biomarker discovery.
PMID 18764911 · PMC2574627 · Pediatric transplantation · 2008 · 8 claims · 8 setups
Serum creatinine is a widely used but non-ideal biomarker for renal transplant monitoring because it lacks specificity and sensitivity for graft injury
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Transcriptomics and adaptive genomics of the asymptomatic bacteriuria Escherichia coli strain 83972.
PMID 18317809 · PMC2329726 · Molecular genetics and genomics : MGG · 2008 · 8 claims · 7 setups
Strain 83972 is best described as a 'deconstructed pathogen' rather than a true commensal that acquired fitness properties
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Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
PMID 19862842 · PMC2830005 · Human mutation · 2009 · 8 claims · 6 setups
Mutations in HGD, which encodes homogentisate dioxygenase, cause AKU by blocking conversion of homogentisic acid to maleylacetoacetic acid in the tyrosine catabolic pathway
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Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.
PMID 19818657 · PMC2818284 · Blood cells, molecules & diseases · 2010 · 8 claims · 5 setups
Common TMPRSS6 polymorphisms (K253E, V736A) are not risk factors for iron deficiency anemia in the general population
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Better smelling through genetics: mammalian odor perception.
PMID 18938244 · PMC2590501 · Current opinion in neurobiology · 2008 · 8 claims · 8 setups
Odorant receptor (OR) gene repertoire size and pseudogene fraction vary dramatically across mammalian species
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Has reproduction · 69
Clinical and molecular correlation defines activity of physiological pathways in life-sustaining kidney xenotransplantation.
PMID 37311769 · PMC10264453 · Nature communications · 2023 · 7 claims · 8 setups
Porcine kidney xenografts transplanted into NHPs show only modest growth over time.
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The human urinary proteome contains more than 1500 proteins, including a large proportion of membrane proteins.
PMID 16948836 · PMC1794545 · Genome biology · 2006 · 8 claims · 6 setups
Identified 1543 proteins in urine from ten healthy donors while essentially eliminating false-positive identifications
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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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Genetic and biochemical studies in Argentinean patients with variegate porphyria.
PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups
All 18 studied VP patients harbored PPOX gene mutations in heterozygous state
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Molecular epidemiology of measles viruses in the United States, 1997-2001.
PMID 12194764 · PMC2732556 · Emerging infectious diseases · 2002 · 8 claims · 6 setups
The diversity of measles virus genotypes observed in the US from 1997–2001 reflects multiple imported sources of virus, indicating no strain of measles is endemic in the United States.
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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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High incidence of human bocavirus infection in children in Spain.
PMID 17904416 · PMC7108365 · Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology · 2007 · 8 claims · 6 setups
HBoV is a significant contributor to acute lower respiratory tract infection in young children in Spain
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Has reproduction · 95
Single-cell transcriptomics and chromatin accessibility profiling elucidate the kidney-protective mechanism of mineralocorticoid receptor antagonists.
PMID 37906287 · PMC10760974 · The Journal of clinical investigation · 2024 · 8 claims · 7 setups
Mineralocorticoid (DOCA) effects are established through open chromatin and target gene expression primarily in principal and connecting tubule cells, and to a lesser extent in distal convoluted tubule (DCT2) cells.
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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups
A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.
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Role of FGFR3 in urothelial cell carcinoma: biomarker and potential therapeutic target.
PMID 17912529 · PMC4876910 · World journal of urology · 2007 · 8 claims · 8 setups
Activating FGFR3 mutations occur frequently in bladder cancer and are strongly associated with low tumour grade and stage
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Genotypic analysis of two hypervariable human cytomegalovirus genes.
PMID 18649324 · PMC2658010 · Journal of medical virology · 2008 · 8 claims · 8 setups
UL146 sequences from 184 samples fall into the same 14 genotypes (G1-G14) previously defined, with no new genotypes found.
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Validation of analytic methods for biomarkers used in drug development.
PMID 18829475 · PMC2744124 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 8 setups
Analytical method validation (assessing assay performance/reproducibility) is a distinct process from clinical qualification (linking a biomarker to biological processes and clinical endpoints), though the two are intertwined.
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Application of OMICS technologies in occupational and environmental health research; current status and projections.
PMID 19933307 · PMC2910417 · Occupational and environmental medicine · 2010 · 8 claims · 6 setups
Five OMICS technologies are well established: genotyping, transcriptomics, epigenomics, proteomics, and metabolomics
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Ovarian cancer biomarkers: current options and future promise.
PMID 18926090 · PMC3381792 · Journal of the National Comprehensive Cancer Network : JNCCN · 2008 · 8 claims · 8 setups
CA125 lacks the sensitivity and specificity needed for reliable early-stage ovarian cancer detection, since only ~50% of stage I/II cases show elevated levels