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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Has reproduction
Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.
PMID 35922433 · PMC9349177 · Nature communications · 2022 · 8 claims · 7 setups
GWAS identified 102 genome-wide significant loci (including 27 novel) associated with aortic distensibility and area traits
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Expression of full-length p53 and its isoform Deltap53 in breast carcinomas in relation to mutation status and clinical parameters.
PMID 17054774 · PMC1636663 · Molecular cancer · 2006 · 7 claims · 7 setups
The alternative splice isoform Δp53 mRNA is co-expressed with full-length p53 mRNA in breast tumors and cell lines
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Evolutionarily conserved and diverged alternative splicing events show different expression and functional profiles.
PMID 16195578 · PMC1240112 · Nucleic acids research · 2005 · 8 claims · 5 setups
Alternative splices in 10,818 human-mouse gene pairs can be classified as conserved, novel, or diverged based on genomic and transcript-level cross-species comparison.
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Modification of the Creator recombination system for proteomics applications--improved expression by addition of splice sites.
PMID 16519801 · PMC1421398 · BMC biotechnology · 2006 · 8 claims · 8 setups
The Creator Splice system (5' intron splicing) significantly increases protein expression levels compared to the standard Creator system
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Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disorders.
PMID 41678398 · PMC13078869 · The Journal of clinical investigation · 2026 · 7 claims · 12 setups
EANMD, a new computational tool, identifies AS-NMD exons using the 50 nt rule plus additional transcript-level features and outperforms existing tools (SpliceTools, NMD Classifier)
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Has reproduction · 84
Expression Atlas update--a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments.
PMID 24304889 · PMC3964963 · Nucleic acids research · 2014 · 8 claims · 6 setups
Expression Atlas is a value-added database providing gene, protein and splice variant expression across cell types, organism parts, developmental stages, diseases and other biological/experimental conditions, built from manually curated high-quality microarray and RNA-sequencing experiments from ArrayExpress.
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Has reproduction · 20
Expression and Secretion of Circular RNAs in the Parasitic Nematode, Ascaris suum.
PMID 35711944 · PMC9194832 · Frontiers in genetics · 2022 · 8 claims · 7 setups
A. suum expresses 1,997 distinct circRNAs identified via next-generation sequencing in adult female body wall and ovary-enriched tissue
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Comprehensive splice-site analysis using comparative genomics.
PMID 16914448 · PMC1557818 · Nucleic acids research · 2006 · 8 claims · 6 setups
Over half a million splice sites were collected from five species (H. sapiens, M. musculus, D. melanogaster, C. elegans, A. thaliana) and classified into four main subtypes: U2-type GT-AG and GC-AG, and U12-type GT-AG and AT-AC.
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Genome-wide survey of allele-specific splicing in humans.
PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups
A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)
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Prediction and assessment of splicing alterations: implications for clinical testing.
PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups
Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification
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Has reproduction · 70
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
PMID 18834967 · PMC2561938 · American journal of human genetics · 2008 · 7 claims · 6 setups
Heterozygous CHD7 mutations cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome without the CHARGE phenotype.
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Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups
The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.
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In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
PMID 17726045 · PMC2094079 · Nucleic acids research · 2007 · 8 claims · 6 setups
Two exonic mutations, PINK1 E417G and PARK7 E64D, disrupt binding to U1 snRNA and cause skipping of the mutation-harboring exon
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Genomic structure and expression of Jmjd6 and evolutionary analysis in the context of related JmjC domain containing proteins.
PMID 18564434 · PMC2453528 · BMC genomics · 2008 · 8 claims · 6 setups
Jmjd6 has been misleadingly annotated as a transmembrane receptor for engulfment of apoptotic cells; recent evidence contradicts this transmembrane receptor function
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Alzheimer's disease biomarker discovery in symptomatic and asymptomatic patients: experimental approaches and future clinical applications.
PMID 19796674 · PMC2840994 · Experimental gerontology · 2010 · 8 claims · 4 setups
cDNA microarray screening of 6794 genes identified 32 genes aberrantly expressed (>1.8-fold) in the superior temporal gyrus of moderate dementia cases versus cognitively normal controls
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Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
PMID 19765279 · PMC2760583 · BMC genomics · 2009 · 8 claims · 5 setups
Global microarray profiling reveals 421 genes differentially expressed in DBA patient fibroblasts compared to healthy controls
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Has reproduction · 59
Downregulation of Splicing Factor PTBP1 Curtails FBXO5 Expression to Promote Cellular Senescence in Lung Adenocarcinoma.
PMID 39057099 · PMC11276454 · Current issues in molecular biology · 2024 · 8 claims · 8 setups
PTBP1 is significantly upregulated across multiple cancer types including LUAD, and higher PTBP1 levels are associated with worse LUAD patient survival
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Genome Network and FANTOM3: assessing the complexity of the transcriptome.
PMID 16683037 · PMC1449904 · PLoS genetics · 2006 · 8 claims · 7 setups
63% of the genome is transcribed from at least one strand, versus the earlier belief that only 2% is transcribed into protein-coding mRNA
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Trans-natural antisense transcripts including noncoding RNAs in 10 species: implications for expression regulation.
PMID 18653530 · PMC2528163 · Nucleic acids research · 2008 · 8 claims · 7 setups
A new computational pipeline identifies trans-SAs using ESTs (not just mRNAs) across 10 animal species, improving coverage over prior methods
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Has reproduction · 75
Endothelial Adgrl2 Expression and Alternative Splicing Controls the Cerebrovasculature.
PMID 41876233 · PMC13108381 · The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026 · 8 claims · 5 setups
Endothelial cell-specific deletion of Adgrl2 impairs cerebrovascular integrity in mice