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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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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Identification of direct regulatory targets of the transcription factor Sox10 based on function and conservation.
PMID 18786246 · PMC2556353 · BMC genomics · 2008 · 6 claims · 6 setups
PLP, Sox10, SOD3, and Ptn are direct regulatory targets of Sox10, confirmed by chromatin immunoprecipitation binding to conserved cis-elements
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Has reproduction · 50
auts2 Features and Expression Are Highly Conserved during Evolution Despite Different Evolutionary Fates Following Whole Genome Duplication.
PMID 36078102 · PMC9454499 · Cells · 2022 · 8 claims · 7 setups
auts2a and auts2b originate from the teleost-specific whole genome duplication (TGD)
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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
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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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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
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Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.
PMID 19818657 · PMC2818284 · Blood cells, molecules & diseases · 2010 · 8 claims · 5 setups
Common TMPRSS6 polymorphisms (K253E, V736A) are not risk factors for iron deficiency anemia in the general population
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Transcription factor binding sites in the pol gene intragenic regulatory region of HIV-1 are important for virus infectivity.
PMID 16061936 · PMC1182164 · Nucleic acids research · 2005 · 8 claims · 6 setups
Oct-1, Oct-2, PU.1, Sp1 and Sp3 interact in vitro with the pol gene HS7 region
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Functional dissection of siRNA sequence by systematic DNA substitution: modified siRNA with a DNA seed arm is a powerful tool for mammalian gene silencing with significantly reduced off-target effect.
PMID 18267968 · PMC2367719 · Nucleic acids research · 2008 · 6 claims · 8 setups
The seed arm (guide strand positions 2-8), its complementary passenger-strand sequence, the 5' end of the guide strand, and the 3' overhang of the passenger strand can be simultaneously replaced with DNA without substantial loss of gene-silencing activity.
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Thermodynamic stability and Watson-Crick base pairing in the seed duplex are major determinants of the efficiency of the siRNA-based off-target effect.
PMID 18988625 · PMC2602766 · Nucleic acids research · 2008 · 8 claims · 6 setups
Thermodynamic stability (Tm and standard free-energy change, ΔG) of the seed duplex is a major determinant of siRNA off-target effect efficiency
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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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No direct effect of the -521 C/T polymorphism in the human dopamine D4 receptor gene promoter on transcriptional activity.
PMID 16723017 · PMC1481588 · BMC molecular biology · 2006 · 8 claims · 3 setups
The -521 C/T SNP has no significant effect on transcriptional activity of the DRD4 promoter in any of three neural cell lines tested
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Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.
PMID 14970870 · PMC3215949 · British journal of cancer · 2004 · 8 claims · 7 setups
Nuclear β-catenin expression in GEJ adenocarcinoma cell lines correlates with enhanced TCF-mediated reporter gene transcription
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A functional map of NFkappaB signaling identifies novel modulators and multiple system controls.
PMID 17553156 · PMC2394752 · Genome biology · 2007 · 8 claims · 6 setups
154 positive and 88 negative modulators of NFκB signaling were identified from genomic screens
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Has reproduction · 63
A methyl-sensitive element induces bidirectional transcription in TATA-less CpG island-associated promoters.
PMID 30332484 · PMC6192621 · PloS one · 2018 · 7 claims · 8 setups
The CGCG element (consensus TCTCGCGAGA) is a conserved 10-bp motif enriched in TATA-less, CpG island-associated promoters of ribosomal protein and housekeeping genes.
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Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).
PMID 16412238 · PMC1368963 · BMC medical genetics · 2006 · 8 claims · 6 setups
A novel PPARG nonsense mutation, Y355X, was identified in a mother and daughter with FPLD3-consistent phenotypes and was absent from unaffected relatives and 260 healthy controls
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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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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
PMID 18992264 · PMC2682550 · Mutation research · 2009 · 8 claims · 8 setups
A combined functional assay, bioinformatics prediction, and structural modeling approach can classify BRCA1 variants of uncertain significance
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Point mutations in GLI3 lead to misregulation of its subcellular localization.
PMID 19829694 · PMC2758996 · PloS one · 2009 · 6 claims · 8 setups
The MID1-α4-PP2A complex regulates the subcellular localization and transcriptional activity of GLI3.
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Has reproduction · 76
PI3K inhibitors protect against glucocorticoid-induced skin atrophy.
PMID 30737086 · PMC6441871 · EBioMedicine · 2019 · 7 claims · 8 setups
PI3K/mTOR/Akt inhibitors are a pharmacological class that represses glucocorticoid-induced REDD1 and FKBP51 expression, identified via LINCS drug-repurposing screen.