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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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups
50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.
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Has reproduction · 90
Multi-omic identification of perineurial hyperplasia and lipid-associated nerve macrophages in human polyneuropathies.
PMID 40849297 · PMC12375038 · Nature communications · 2025 · 8 claims · 6 setups
A single-nucleus transcriptomic atlas of 37 human sural nerves (365,708 nuclei) defines 24 cell clusters and reveals unexpected heterogeneity of perineurial cells (periC1-3).
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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups
R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity
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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups
Mutations in GLE1, an mRNA export mediator, cause LCCS1
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KEGG spider: interpretation of genomics data in the context of the global gene metabolic network.
PMID 19094223 · PMC2646283 · Genome biology · 2008 · 8 claims · 8 setups
KEGG spider, using a global 'pathway-free' metabolic network framework, provides deeper insight into metabolism variations than existing enrichment-based methods.
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Aggregation propensity of the human proteome.
PMID 18927604 · PMC2557143 · PLoS computational biology · 2008 · 8 claims · 7 setups
Long proteins have, on average, less intense/pronounced aggregation peaks than short proteins
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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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Improvements to cardiovascular gene ontology.
PMID 19046747 · PMC2706316 · Atherosclerosis · 2009 · 8 claims · 8 setups
Gene Ontology (GO) provides a controlled vocabulary that links current functional knowledge of genes to high-throughput genomic and proteomic datasets, aiding data interpretation.
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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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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups
Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)
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HUPO Highlights.
PMID 19862759 · PMC4594800 · Proteomics · 2009 · 8 claims · 8 setups
Mass spectrometry analysis of human liver reference samples (French Reference liver + Huh7 hepatoma cells) achieves substantial human genome coverage via PeptideAtlas processing
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Upregulation of Copine1 in trabecular meshwork cells of POAG patients: a membrane proteomics approach.
PMID 18523666 · PMC2408776 · Molecular vision · 2008 · 7 claims · 5 setups
Copine1 mRNA and protein expression are upregulated in glaucomatous TM (GTM) cells compared to normal TM (NTM) cells
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A new era for proteomics research?
PMID 19014405 · PMC2614486 · Genome biology · 2008 · 8 claims · 8 setups
Refined mass spectrometry instrumentation and software now make whole-proteome coverage of model organisms in a single experiment conceivable
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Has reproduction · 90
Dynamic interaction of MYC enhancer RNA with YEATS2 protein regulates MYC gene transcription in pancreatic cancer.
PMID 40216980 · PMC12117045 · EMBO reports · 2025 · 8 claims · 11 setups
MYC eRNAs (notably MYC-490-kb) are transcribed from the MYC super-enhancer and are upregulated by chronic TNF-α stimulation specifically in pancreatic cancer cells, not normal pancreatic epithelial cells
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Colocalization of increased transforming growth factor-beta-induced protein (TGFBIp) and Clusterin in Fuchs endothelial corneal dystrophy.
PMID 19011008 · PMC2719557 · Investigative ophthalmology & visual science · 2009 · 6 claims · 5 setups
TGFBIp (multiple molecular weight forms) is significantly overexpressed in FECD HCEC-DM complex compared to normal endothelium
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Report of the 9th HLPP Workshop October 2007, Seoul, Korea.
PMID 18683817 · PMC4601560 · Proteomics · 2008 · 8 claims · 8 setups
An integrated separating-identifying platform identified 6788 proteins (≥2 peptides, 95% confidence) in Chinese human liver samples, including 3721 new to liver and 977 hypothetical proteins