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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A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
PMID 16968799 · PMC1865483 · The Journal of clinical endocrinology and metabolism · 2006 · 7 claims · 8 setups
A homozygous R262Q GNRHR mutation was identified in two brothers from an Asian Indian family, one of 11 families studied with delayed puberty or discordant IHH/delayed puberty siblings.
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Research Spotlight: New multiparameter bioanalytical technologies for applications in personalized medicine, drug discovery and fundamental biology.
PMID 21083072 · PMC3106349 · Bioanalysis · 2009 · 8 claims · 8 setups
High-density arrays of silicon photonic microring resonators enable label-free, multiplexed detection of DNA, miRNA, and protein biomarkers from a single small-volume sample
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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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Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups
Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings
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Usefulness of cancer-testis antigens as biomarkers for the diagnosis and treatment of hepatocellular carcinoma.
PMID 17244360 · PMC1797003 · Journal of translational medicine · 2007 · 8 claims · 8 setups
HCC is a highly heterogeneous, non-linear disease driven by complex, multi-stage genetic and environmental alterations
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Elevated serum levels of interferon-regulated chemokines are biomarkers for active human systemic lupus erythematosus.
PMID 17177599 · PMC1702557 · PLoS medicine · 2006 · 8 claims · 4 setups
30 of 160 measured serum analytes (cytokines, chemokines, growth factors, soluble receptors) are dysregulated in SLE serum
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Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups
Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy
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Integrated analysis of genetic and proteomic data identifies biomarkers associated with adverse events following smallpox vaccination.
PMID 18923431 · PMC2692715 · Genes and immunity · 2009 · 7 claims · 6 setups
A two-stage strategy (Random Forest filtering followed by decision tree modeling) can integrate categorical genetic and continuous proteomic data to identify biomarkers of AE risk
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Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.
PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups
A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members
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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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Comparative Genomics of Borderline Oxacillin-Resistant Staphylococcus aureus Detected during a Pseudo-outbreak of Methicillin-Resistant S. aureus in a Neonatal Intensive Care Unit.
PMID 35038924 · PMC8764539 · mBio · 2022 · 7 claims · 8 setups
Of 42 isolates flagged as MRSA by screening agar, only 9 were PBP2a- and mecA-positive true MRSA, while the remaining 33 were mecA-negative and largely met criteria for BORSA
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Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations.
PMID 17640344 · PMC1939985 · BMC medical genetics · 2007 · 8 claims · 5 setups
Significant differences in 3'APOB-VNTR allele and genotype frequencies exist between Hei Yi Zhuang and Han populations
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Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.
PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups
E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)
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Multimodal techniques for diagnosis and prognosis of Alzheimer's disease.
PMID 19829371 · PMC2810658 · Nature · 2009 · 8 claims · 8 setups
AD pathology accumulates for approximately 10-15 years in a preclinical phase before synaptic and neuronal loss manifest as cognitive decline