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).

• Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

  PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups

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  Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.

  peripheral case molecular continuous serum

• BRCA1 and BRCA2 mutations in central and southern Italian patients.

  PMID 11056688 · PMC13918 · Breast cancer research : BCR · 2000 · 8 claims · 4 setups

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  Deleterious germline BRCA1/BRCA2 mutations were detected in 11 of 136 (8%) unrelated Italian breast/ovarian cancer probands.

  genomic peripheral truncation single-strand direct

• A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation.

  PMID 14521712 · PMC212228 · Molecular cancer · 2003 · 6 claims · 5 setups

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  Pro582Ser is a common HIF-1α ODD-domain polymorphism occurring at similar frequency in idiopathic erythrocytosis patients (0.109) and normal controls (0.073)

  genomic recombinant 35s-labeled sanger pcr-rflp gst

• The proteogenomic path towards biomarker discovery.

  PMID 18764911 · PMC2574627 · Pediatric transplantation · 2008 · 8 claims · 8 setups

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  Serum creatinine is a widely used but non-ideal biomarker for renal transplant monitoring because it lacks specificity and sensitivity for graft injury

  renal urine breast chronic microarray immunoassay gel

• 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

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  INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype

  metaphase genomic ebv-transformed serum fluorescence multiplex sanger

• Proteolysis of the endothelial cell protein C receptor by neutrophil proteinase 3.

  PMID 17459006 · PMC1890847 · Journal of thrombosis and haemostasis : JTH · 2007 · 8 claims · 8 setups

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  Activated neutrophils decrease EPCR surface expression on endothelial cells over time

  ea.hy926 peripheral neutrophils recombinant flow luminol-dependent sds-page

• Developmental and genetic regulation of human surfactant protein B in vivo.

  PMID 18776725 · PMC2765709 · Neonatology · 2009 · 8 claims · 7 setups

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  Pro-SP-B peptides are more common in developmentally less mature humans (amniotic fluid, neonatal tracheal aspirates) than in adults

  amniotic tracheal bronchoalveolar simultaneous immunoblotting reducing gene