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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Intronic alternative splicing regulators identified by comparative genomics in nematodes.
PMID 16839192 · PMC1500816 · PLoS computational biology · 2006 · 8 claims · 6 setups
Conserved intronic elements flanking alternative exons occur more often than expected from total intron sequence, consistent with selective pressure for splicing regulation
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VISTA Enhancer Browser--a database of tissue-specific human enhancers.
PMID 17130149 · PMC1716724 · Nucleic acids research · 2007 · 8 claims · 2 setups
Comparative genome analysis can identify candidate human enhancer elements whose tissue-specific in vivo activity can then be experimentally validated in transgenic mice.
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Paircomp, FamilyRelationsII and Cartwheel: tools for interspecific sequence comparison.
PMID 15790396 · PMC1087472 · BMC bioinformatics · 2005 · 8 claims · 7 setups
Paircomp, FamilyRelationsII, and Cartwheel together form an integrated system for comparing, viewing, and managing analyses of BAC-sized (~100 kb) genomic sequence pairs.
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Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.
PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups
A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.
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WNT10B mutations in human obesity.
PMID 16477437 · PMC4304000 · Diabetologia · 2006 · 8 claims · 8 setups
The WNT10B C256Y missense mutation abrogates the protein's ability to activate canonical WNT signalling and block adipogenesis
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A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups
A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred
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Has reproduction · 81
An Erg-driven transcriptional program controls B cell lymphopoiesis.
PMID 32541654 · PMC7296042 · Nature communications · 2020 · 8 claims · 8 setups
Erg is essential for early B-cell development, with its loss causing developmental arrest at the pre–proB (Hardy fraction A-to-B) stage
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Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis.
PMID 17587445 · PMC1913537 · BMC genetics · 2007 · 6 claims · 4 setups
CCR7 gene variants occur at extremely low frequency (allelic frequencies ≤5%) in the German population
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Context dependent function of APPb enhancer identified using enhancer trap-containing BACs as transgenes in zebrafish.
PMID 18832376 · PMC2577333 · Nucleic acids research · 2008 · 8 claims · 6 setups
A novel enhancer trap method retrofitting BACs with Tn10-based transposons enables nontargeted, functional mapping of noncontiguous cis-regulatory elements as zebrafish transgenes.
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Genomic profiling of microRNA and messenger RNA reveals deregulated microRNA expression in prostate cancer.
PMID 18676839 · PMC2597340 · Cancer research · 2008 · 8 claims · 7 setups
MicroRNA processing components (Dicer, DGCR8) and microRNA host genes (MCM7, C9orf5) are significantly up-regulated in prostate tumors versus non-tumor tissue
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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Genomic views of distant-acting enhancers.
PMID 19741700 · PMC2923221 · Nature · 2009 · 8 claims · 8 setups
Meta-analysis of ~1200 top GWAS SNPs found that in 40% of cases (472/1170) no known exons overlap the linked SNP or its haplotype block, implying noncoding variation causally contributes to many traits.
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Expression of RAB4B, a protein governing endocytic recycling, is co-regulated with MHC class II genes.
PMID 17175541 · PMC1802633 · Nucleic acids research · 2007 · 7 claims · 7 setups
A typical MHC-II-like S-Y module is present upstream of the RAB4B transcription start site, identified by genome-wide profile scanning
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Persistence of attenuated HIV-1 rev alleles in an epidemiologically linked cohort of long-term survivors infected with nef-deleted virus.
PMID 17601342 · PMC1933581 · Retrovirology · 2007 · 7 claims · 6 setups
Dominant, persistent rev alleles from SBBC subjects D36 and C64 show ~90% reduced Rev/RRE binding compared to HIV-1 NL4-3, C18, and C98 Revs.
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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
Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls
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Investigations on a clinically and functionally unusual and novel germline p53 mutation.
PMID 12085209 · PMC2746598 · British journal of cancer · 2002 · 8 claims · 7 setups
A novel germline 7 base pair insertion in exon 5 of p53 (causing frameshift from codon 161 with a stop at codon 182) was identified in a patient with osteosarcoma at age 22 and choroid plexus papilloma at age 29.
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Gamma radiation increases endonuclease-dependent L1 retrotransposition in a cultured cell assay.
PMID 16507671 · PMC1385994 · Nucleic acids research · 2006 · 8 claims · 6 setups
Gamma radiation increases L1 retrotransposition frequency in cultured cells
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Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.
PMID 17557180 · PMC1998882 · Mammalian genome : official journal of the International Mammalian Genome Society · 2007 · 7 claims · 7 setups
A BAC transgene containing Prop1 completely rescues the Prop1 mutant (dwarf) phenotype, showing all necessary regulatory elements lie within the BAC
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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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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups
c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one