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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A high throughput method for genome-wide analysis of retroviral integration.
PMID 17028098 · PMC1636494 · Nucleic acids research · 2006 · 8 claims · 8 setups
VITA uses MmeI to cleave DNA at a fixed distance from its recognition site, generating 21-22 bp genomic tags that serve as signatures of lentiviral integration sites.
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Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages.
PMID 16034026 · PMC1179734 · Nucleic acids research · 2005 · 8 claims · 6 setups
L1 insertions are directly responsible for genomic deletions (L1IMDs) confirmed in both human and chimpanzee genomes
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The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups
The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)
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A naturally occurring human RPA subunit homolog does not support DNA replication or cell-cycle progression.
PMID 19942684 · PMC2817474 · Nucleic acids research · 2010 · 8 claims · 7 setups
Exogenous RPA4 expression does not support chromosomal DNA replication and causes cell-cycle arrest in G2/M
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Alternative splicing and bioinformatic analysis of human U12-type introns.
PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups
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
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A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.
PMID 18628483 · PMC2561321 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 6 claims · 7 setups
A novel heterozygous BRIP1 germline mutation (c.2992-2995delAAGA) was identified in a breast cancer patient, causing a frameshift and premature stop codon in exon 20.
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Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.
PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups
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
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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups
A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T
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Comparative genomics and experimental promoter analysis reveal functional liver-specific elements in mammalian hepatic lipase genes.
PMID 17428321 · PMC1853088 · BMC genomics · 2007 · 8 claims · 7 setups
Cis-regulatory elements responsible for liver-specific HL expression are conserved among mammalian HL genes
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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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Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability.
PMID 19754929 · PMC2759954 · BMC genetics · 2009 · 8 claims · 4 setups
Breast tumor heterozygotes show a significant difference in relative mRNA levels between the two alleles of rs4986938
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CTCF binding site classes exhibit distinct evolutionary, genomic, epigenomic and transcriptomic features.
PMID 19922652 · PMC3091324 · Genome biology · 2009 · 8 claims · 8 setups
CTCF binding sites can be classified into three occupancy-based classes (LowOc, MedOc, HighOc) based on similarity to the CTCF PWM motif
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Systems biology of gene regulation fulfills its promise.
PMID 16719937 · PMC1779525 · Genome biology · 2006 · 8 claims · 8 setups
Suz12, a Polycomb Group complex component, has DNA targets identifiable by ChIP-chip and can silence large genomic regions in a cell-type-specific manner.
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miRGen 2.0: a database of microRNA genomic information and regulation.
PMID 19850714 · PMC2808909 · Nucleic acids research · 2010 · 7 claims · 6 setups
miRGen 2.0 is a database providing comprehensive information about the genomic position of human and mouse microRNA coding transcripts and their regulation by transcription factors
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Deletion of dinucleotide repeat (Delta 14 allele) in the methylthioadenosine phosphorylase (MTAP) promoter and the allelotype of MTAP promoter in the Japanese population.
PMID 11985785 · PMC5927014 · Japanese journal of cancer research : Gann · 2002 · 8 claims · 4 setups
DHL-9 lymphoma cells lack detectable MTAP enzyme activity despite possessing an intact (non-deleted) MTAP gene
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From linear genome sequence to three-dimensional organization of the cell nucleus.
PMID 12620101 · PMC153456 · Genome biology · 2003 · 8 claims · 8 setups
Chromosome conformation capture (3C) can quantify in vivo physical interaction frequencies between genomic loci by crosslinking, digestion, and intramolecular ligation followed by PCR
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Genome-wide location analysis and expression studies reveal a role for p110 CUX1 in the activation of DNA replication genes.
PMID 18003658 · PMC2248751 · Nucleic acids research · 2008 · 8 claims · 8 setups
p110 CUX1 is recruited to promoters of cell cycle-related target genes preferentially during S phase
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Genome-wide identification of in vivo protein-DNA binding sites from ChIP-Seq data.
PMID 18684996 · PMC2532738 · Nucleic acids research · 2008 · 8 claims · 7 setups
SISSRs identifies binding sites from ChIP-Seq short reads with much higher resolution than the standard region-clustering approach
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Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
PMID 18157127 · PMC2397541 · Nature genetics · 2008 · 8 claims · 8 setups
Homozygous truncating mutations in PCNT cause Seckel syndrome
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Endonuclease-independent insertion provides an alternative pathway for L1 retrotransposition in the human genome.
PMID 17517773 · PMC1920257 · Nucleic acids research · 2007 · 8 claims · 5 setups
An endonuclease-independent pathway (NCLI) for L1 insertion has been active in recent human genome evolution