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).

• Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

  PMID 16855287 · PMC1524908 · Nucleic acids research · 2006 · 8 claims · 8 setups

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  Splicing-affecting genomic variations can account for up to 50% of mutations leading to gene dysfunction in some genes

  random trans-acting tpo fibronectin minigene selex cdna

• Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo.

  PMID 16231974 · PMC1262628 · PLoS biology · 2005 · 8 claims · 8 setups

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  Distinct combinations of pre-mRNA splicing factors are recruited to sites of alternatively spliced transcripts in intact cells, providing the first in vivo evidence for differential splicing factor association.

  cos-1 cos-7 tau10-1 rt-pcr quantitative rna-fish

• In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

  PMID 16995940 · PMC1590028 · BMC genomics · 2006 · 8 claims · 6 setups

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  In silico ESE-prediction algorithms (ESEfinder, RescueESE, PESX) do not reliably predict actual in vivo splicing behavior of missense mutations

  hmlh1 same cos-7 hela ese splice minigene

• Proteomic identification of heterogeneous nuclear ribonucleoprotein L as a novel component of SLM/Sam68 Nuclear Bodies.

  PMID 19912651 · PMC2784748 · BMC cell biology · 2009 · 7 claims · 7 setups

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  hnRNP L is a novel Sam68-interacting protein partner identified by proteomics and confirmed by co-immunoprecipitation

  lncap hek293 nih3t3 co-immunoprecipitation sucrose indirect

• Alu-mediated RNA duplexes are associated with widespread exon skipping across primate transcriptomes.

  PMID 41882679 · PMC13019944 · Genome biology · 2026 · 8 claims · 7 setups

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  The majority of long-range intronic RNA duplexes detected genome-wide are mediated by inverted Alu-repeat elements.

  k562 hek293t chimpanzee computational splash eclip-seq

• A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

  PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups

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  The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.

  microdissected resected non-tumor liver pcr-rflp immunohistochemistry western

• Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.

  PMID 41872207 · PMC13171879 · Nature communications · 2026 · 8 claims · 7 setups

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  A sequential sequencing strategy (WES→WGS→RNA-seq→NLR-seq) identifies COL4A3/COL4A4/COL4A5 variants in 509/555 (91.7%) of Alport syndrome patients

  chinese prediction-negative randomly minigene whole-exome whole-genome sequencing