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).

Publications 1.3k Datasets 392.5k Experiments 37

System / cell line: type ✕ Assay: intron ✕ Clear

Alternative splicing and bioinformatic analysis of human U12-type introns.

PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups

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The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells

hela hek293 genome jnk2 rt-pcr minigene bioinformatic
Deep transcriptomics reveals cell-specific isoforms of pan-neuronal genes.

PMID 40379625 · PMC12084633 · Nature communications · 2025 · 8 claims · 5 setups

Has reproduction · 84

Pan-neuronal genes (expressed in many/all neurons) harbor highly cell-specific splice variants/isoforms restricted to single or few neuron types.

elegans short-read whole-animal rt-pcr
Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability.

PMID 15778432 · PMC1067522 · Nucleic acids research · 2005 · 8 claims · 8 setups

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Dinucleotide microsatellite alterations in human cancer fall into two distinct modes: Type A (length changes ≤6 bp) and Type B (changes ≥8 bp)

msh2− mlh1− lymphomas colorectal fluorescent sequencing immunohistochemistry
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

PMID 15665393 · PMC3839340 · Disease markers · 2004 · 8 claims · 4 setups

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An intron-5/exon-6 splice acceptor mutation in TGM1, detectable by MspI digestion, was identified in two Egyptian families at a frequency of 9.6% (5/52 alleles)

genomic arci pcr clinical pedigree
Visualizing the genome: techniques for presenting human genome data and annotations.

PMID 12149135 · PMC119855 · BMC bioinformatics · 2002 · 8 claims · 4 setups

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Web-based client-server genome browsers (e.g., LocusLink evidence viewer, UCSC genome browser) are limited by lack of true interactivity, requiring server round-trips for navigation

flj22324 snurf arg1 plat cdna-to-genomic multi-track frame-of-translation
Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.

PMID 12107845 · PMC2376109 · British journal of cancer · 2002 · 8 claims · 1 setups

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The SP-B intron 4 gene variant is significantly more frequent in squamous cell lung carcinoma (SCC) patients (25.0%) than in matched controls, OR=3.2, P=0.016

peripheral allele-specific
isoSeQL: comparing long-read isoforms across multiple datasets.

PMID 41452740 · PMC12790818 · Bioinformatics (Oxford, England) · 2026 · 8 claims · 4 setups

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isoSeQL enables comparison of long-read isoform profiles across multiple datasets by consolidating SQANTI3-annotated samples into a unified SQLite database with consistent isoform IDs

gencode simulated gm12878 peripheral intron simulated long-read
Switches in expression of Plasmodium falciparum var genes correlate with changes in antigenic and cytoadherent phenotypes of infected erythrocytes.

PMID 7606775 · PMC3730239 · Cell · 1995 · 6 claims · 8 setups

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Expression of a specific var gene (A4var) correlates with A4 antigenic type and with binding to ICAM-1

falciparum cdna c18 genomic rt-pcr southern genomic
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups

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Mutations in USH2A are responsible for most cases of USH2

genomic family probands ush2a direct restriction single
Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups

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Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls

genomic postmortem nimhgi esr1 targeted case-control family-based
Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups

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Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed

genomic hela itgb1bp2 melusin direct minigene in-silico
Expoldb: expression linked polymorphism database with inbuilt tools for analysis of expression and simple repeats.

PMID 17038195 · PMC1618849 · BMC genomics · 2006 · 8 claims · 6 setups

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EXPOLDB is a novel database integrating human gene expression variability data (including monozygotic twin comparisons) with (TG/CA)n repeat polymorphism information

blood genomic genes housekeeping microarray repeat est-based
LaSSO, a strategy for genome-wide mapping of intronic lariats and branch points using RNA-seq.

PMID 24709818 · PMC4079972 · Genome research · 2014 · 8 claims · 8 setups

Has reproduction · 68

LaSSO (Lariat Sequence Site Origin) identifies intronic lariat reads and pinpoints branch points genome-wide from RNA-seq data by considering every intronic base as a potential branch point and including all possible exon-skipping lariats.

schizosaccharomyces pombe rna-seq lasso lariat-specific
Human SNPs resulting in premature stop codons and protein truncation.

PMID 16595072 · PMC3500177 · Human genomics · 2006 · 8 claims · 6 setups

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Genome-wide screening of dbSNP identified 28 validated X-SNPs from 28 genes with known minor allele frequencies.

genome transcripts validated x-snp-encoded database blast exon-intron
Distribution and effects of nonsense polymorphisms in human genes.

PMID 18852891 · PMC2561068 · PloS one · 2008 · 8 claims · 8 setups

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Nonsense SNPs occur at a lower density than nonsynonymous SNPs, indicating stronger purifying selection against premature stop codons than amino acid changes.

genome genes nonsense snps genome-wide snp codon
Large-scale mutagenesis in p19(ARF)- and p53-deficient mice identifies cancer genes and their collaborative networks.

PMID 18485879 · PMC2405818 · Cell · 2008 · 8 claims · 8 setups

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A large-scale retroviral insertional mutagenesis screen identified 10,806 insertion sites implicating over 300 loci in tumorigenesis

p53 tumor tumors computational retroviral linker-mediated flow
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups

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A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls

family k4425 embryonic scn9a-n641y linkage copy deletion
Adapting to a changing world: RAG genomics and evolution.

PMID 16004728 · PMC3525258 · Human genomics · 2005 · 8 claims · 7 setups

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RAG-1/RAG-2 origin is a foundational hallmark of adaptive immunity, enabling V(D)J recombination of antigen receptor genes.

rag-1 patients zebrafish vertebrate comparative site-directed clinical
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
CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

PMID 18725978 · PMC2518116 · PloS one · 2008 · 7 claims · 6 setups

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TP53 mutations, especially those affecting the L2/L3 DNA-binding domains, are associated with resistance (progressive disease) to epirubicin therapy

snap-frozen tumor u-2-os patients pcr bisulphite loss

Experiments

Alternative splicing and bioinformatic analysis of human U12-type introns.

Deep transcriptomics reveals cell-specific isoforms of pan-neuronal genes.

Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability.

Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

Visualizing the genome: techniques for presenting human genome data and annotations.

Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.

isoSeQL: comparing long-read isoforms across multiple datasets.

Switches in expression of Plasmodium falciparum var genes correlate with changes in antigenic and cytoadherent phenotypes of infected erythrocytes.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

Expoldb: expression linked polymorphism database with inbuilt tools for analysis of expression and simple repeats.

LaSSO, a strategy for genome-wide mapping of intronic lariats and branch points using RNA-seq.

Human SNPs resulting in premature stop codons and protein truncation.

Distribution and effects of nonsense polymorphisms in human genes.

Large-scale mutagenesis in p19(ARF)- and p53-deficient mice identifies cancer genes and their collaborative networks.

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Adapting to a changing world: RAG genomics and evolution.

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

CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.