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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Autoantibody profiling for the study and treatment of autoimmune disease.
PMID 12223102 · PMC128938 · Arthritis research · 2002 · 8 claims · 8 setups
Custom-fabricated antigen microarrays (spotted on poly-L-lysine-coated glass slides) enable multiplex profiling of autoantibody responses in autoimmune disease sera.
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The many uses of a genome sequence.
PMID 11423005 · PMC138940 · Genome biology · 2001 · 8 claims · 8 setups
Solved protein structures from structural genomics efforts can be used to model many other proteins by homology, aiding function prediction
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Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.
PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups
Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.
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Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass.
PMID 18443592 · PMC2742198 · Nature genetics · 2008 · 8 claims · 8 setups
Osteoglycin (Ogn) is a major candidate regulator of rat LVM, with increased Ogn protein expression associated with elevated LVM
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From Pasteur to genomics: progress and challenges in infectious diseases.
PMID 15516917 · PMC7096024 · Nature medicine · 2004 · 8 claims · 8 setups
Genomic sequencing has revealed the blueprint of most pathogens, enabling new diagnostics, therapeutics and vaccines including for previously uncultivable agents.
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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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The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
PMID 18852351 · PMC2629407 · Archives of neurology · 2008 · 8 claims · 8 setups
GBA mutations are associated with a spectrum of parkinsonian phenotypes ranging from Parkinson disease to Lewy body dementia
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Proteomic surveillance of retinal autoantigens in endogenous uveitis: implication of esterase D and brain-type creatine kinase as novel autoantigens.
PMID 18552983 · PMC2426731 · Molecular vision · 2008 · 7 claims · 6 setups
Six novel candidate retinal autoantigens (β-actin, esterase D, tubulin β-2, brain-type creatine kinase, VDAC, aspartate aminotransferase) were identified by 2D-WB and mass spectrometry in EAU mice
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Quantitative mass spectrometry of diabetic kidney tubules identifies GRAP as a novel regulator of TGF-beta signaling.
PMID 19836472 · PMC2829334 · Biochimica et biophysica acta · 2010 · 8 claims · 7 setups
Label-free 2D-LC-MS/MS quantitative proteomics identified 476 significantly differentially expressed proteins in kidney tubules of diabetic OVE26 mice versus control mice
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Has reproduction · 67
The TREM2-APOE Pathway Drives the Transcriptional Phenotype of Dysfunctional Microglia in Neurodegenerative Diseases.
PMID 28930663 · PMC5719893 · Immunity · 2017 · 8 claims · 8 setups
A common APOE-dependent microglial molecular signature (MGnD) — loss of homeostatic genes plus induction of inflammatory genes with Apoe among the most upregulated — occurs in ALS, MS and AD mouse models and around neuritic Aβ-plaques in human AD brain.
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A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups
A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.
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The mammalian phenotype ontology: enabling robust annotation and comparative analysis.
PMID 20052305 · PMC2801442 · Wiley interdisciplinary reviews. Systems biology and medicine · 2009 · 8 claims · 6 setups
The Mammalian Phenotype (MP) Ontology enables classification and organization of phenotypic data for mouse and other mammalian species in a computationally useful, standardized manner.
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Has reproduction · 48
Screening of Diagnostic Biomarkers and Immune Infiltration Characteristics Linking Rheumatoid Arthritis and Rosacea Based on Bioinformatics Analysis.
PMID 39104909 · PMC11299729 · Journal of inflammation research · 2024 · 8 claims · 8 setups
277 co-expressed DEGs shared between RA and rosacea are enriched in immune processes and chemokine-mediated signaling pathways
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Finding signals that regulate alternative splicing in the post-genomic era.
PMID 12429065 · PMC244920 · Genome biology · 2002 · 8 claims · 8 setups
Alternative splicing generates protein and regulatory diversity from a limited number of genes and modulates isoform levels in a cell-context-specific manner
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Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.
PMID 15601538 · PMC3525068 · Human genomics · 2004 · 8 claims · 8 setups
An integrated system combining Ensembl, ACeDB, Gbrowse and custom relational databases provides a scalable genome informatics and workflow infrastructure for complex disease gene discovery.
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Editing of hnRNP K protein mRNA in colorectal adenocarcinoma and surrounding mucosa.
PMID 16404425 · PMC2361188 · British journal of cancer · 2006 · 7 claims · 8 setups
A G274A base substitution in hnRNP K mRNA is present in colorectal tumours and surrounding mucosa but absent from corresponding genomic DNA, indicating an RNA editing event rather than a germline polymorphism.
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Pharmacogenomics of gemcitabine: can genetic studies lead to tailor-made therapy?
PMID 17595663 · PMC2360307 · British journal of cancer · 2007 · 8 claims · 14 setups
A SNP in the cytidine deaminase (CDA) gene (208G>A, haplotype *3) decreases gemcitabine clearance, increases Cmax/AUC, and increases neutropenia risk when gemcitabine is combined with platinum drugs or 5-FU