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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Sources of variability and effect of experimental approach on expression profiling data interpretation.
PMID 11936955 · PMC65691 · BMC bioinformatics · 2002 · 8 claims · 7 setups
Intra-patient tissue heterogeneity (different regions of the same biopsy) is often the greatest source of variability in expression profiling
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Genetics and functional genomics of type 2 diabetes mellitus.
PMID 14659011 · PMC329413 · Genome biology · 2003 · 7 claims · 5 setups
Genome-wide transcription profiling of diabetic skeletal muscle reveals coordinated downregulation of oxidative phosphorylation genes, converging on PGC1α as a central regulator.
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Multi-organ expression profiling uncovers a gene module in coronary artery disease involving transendothelial migration of leukocytes and LIM domain binding 2: the Stockholm Atherosclerosis Gene Expression (STAGE) study.
PMID 19997623 · PMC2780352 · PLoS genetics · 2009 · 8 claims · 6 setups
Functionally associated gene modules, not individual genes, underlie CAD development and can be identified via multi-organ expression clustering
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Proteomics analysis of human skeletal muscle reveals novel abnormalities in obesity and type 2 diabetes.
PMID 19833877 · PMC2797941 · Diabetes · 2010 · 7 claims · 5 setups
Mitochondrial protein abundance is decreased in insulin-resistant (obese and type 2 diabetic) skeletal muscle
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Has reproduction · 84
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups
Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1
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Has reproduction · 100
Shared and unique phosphoproteomics responses in skeletal muscle from exercise models and in hyperammonemic myotubes.
PMID 36345342 · PMC9636548 · iScience · 2022 · 8 claims · 7 setups
Comparative phosphoproteomics of hyperammonemic myotubes and exercise-model muscle identifies shared enriched pathways: PKA, calcium signaling, MAPK signaling, and protein homeostasis.
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Transcriptome and proteome expressions involved in insulin resistance in muscle and activated T-lymphocytes of patients with type 2 diabetes.
PMID 18267303 · PMC5054231 · Genomics, proteomics & bioinformatics · 2007 · 8 claims · 8 setups
Gene expression of INSR, VDR, IDE, Akt, IRS-1, IRS-2, GLUT4, and glycolytic pathway enzymes is decreased at least 50% in T2DM muscle and activated T-cells versus non-diabetic controls
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With the finished human genome in hand, what next?
PMID 12844356 · PMC193627 · Genome biology · 2003 · 8 claims · 8 setups
Gene Ontology (GO) provides a syntax/query framework for functional classification of genes, expanding beyond E. coli origins into anatomy, pathology, and phenotype data.
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Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.
PMID 18948002 · PMC2592511 · Neuromuscular disorders : NMD · 2008 · 7 claims · 7 setups
The patient carries a homozygous Trp25X (TGG→TGA) mutation in TCAP causing premature termination of translation/transcription and complete telethonin deficiency.
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Has reproduction · 68
Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity.
PMID 33837217 · PMC8035321 · Nature communications · 2021 · 8 claims · 8 setups
MOCCI (encoded by C15ORF48) is a mito-SEP upregulated during inflammation and infection that promotes host-protective resolution
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Has reproduction · 78
Meta-analysis of gene expression profiles of lean and obese PCOS to identify differentially regulated pathways and risk of comorbidities.
PMID 32695266 · PMC7352056 · Computational and structural biotechnology journal · 2020 · 8 claims · 8 setups
The majority of differentially expressed genes in PCOS are downregulated regardless of tissue type and phenotype
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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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Has reproduction · 81
Macrophages on the run: Exercise balances macrophage polarization for improved health.
PMID 39476967 · PMC11585839 · Molecular metabolism · 2024 · 8 claims · 7 setups
Immediate/acute exercise triggers an M1 (pro-inflammatory) macrophage polarization surge.
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups
A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family