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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The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.
PMID 17438525 · PMC2669504 · Molecular vision · 2007 · 8 claims · 8 setups
NR2E3 LBD fused to a heterologous Gal4 DBD mediates dose-dependent transcriptional repression on Gal4-responsive reporters.
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Has reproduction · 93
Protocol for assessing regulatory elements in murine heart using an AAV9-based massively parallel reporter assay.
PMID 40252222 · PMC12033988 · STAR protocols · 2025 · 8 claims · 5 setups
An AAV9-based in vivo MPRA (AAV-MPRA) workflow, combined with a companion informatics platform, can dissect and quantify enhancer activity in mouse heart.
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Large-scale analysis of human alternative protein isoforms: pattern classification and correlation with subcellular localization signals.
PMID 15860772 · PMC1087780 · Nucleic acids research · 2005 · 8 claims · 8 setups
Constructed a large-scale dataset of 6876 human alternative protein isoforms from 2624 genes by combining H-Invitational full-length cDNA data and SwissProt VARSPLIC entries
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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups
R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity
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HIV-1 evolution following transmission to an HLA-B*5801-positive patient.
PMID 19909081 · PMC2779566 · The Journal of infectious diseases · 2009 · 8 claims · 8 setups
Multiple escape mutations developed rapidly in HLA-B*5801-restricted epitopes in Gag, Nef, and Pol following transmission
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Integrative annotation of 21,037 human genes validated by full-length cDNA clones.
PMID 15103394 · PMC393292 · PLoS biology · 2004 · 8 claims · 5 setups
41,118 full-length human cDNAs from six high-throughput sequencing projects were exhaustively integratively characterized
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A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
PMID 19958498 · PMC2788387 · BMC genomics · 2009 · 8 claims · 4 setups
Comparative homology modeling of wild-type and mutant α-mannosidase across human, cow, cat and guinea pig reveals a significant correlation between genotype severity and phenotype severity in α-mannosidosis
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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
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.
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Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups
TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes
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Has reproduction · 57
Analysis and comprehensive comparison of PacBio and nanopore-based RNA sequencing of the Arabidopsis transcriptome.
PMID 32536962 · PMC7291481 · Plant methods · 2020 · 8 claims · 8 setups
ONT Pc produces higher raw data quality (higher alignment rate, lower error rate) than ONT Dc, while PacBio generates the longest reads
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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
Expression of a specific var gene (A4var) correlates with A4 antigenic type and with binding to ICAM-1
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Molecular analysis of Plasmodium ovale variants.
PMID 15324543 · PMC3323326 · Emerging infectious diseases · 2004 · 8 claims · 5 setups
P. ovale isolates separate into two genetically distinct types, classic (Nigerian I/CDC) and variant (LS), consistent across four independent gene loci.
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Genomic signatures of human versus avian influenza A viruses.
PMID 17073083 · PMC3294750 · Emerging infectious diseases · 2006 · 8 claims · 6 setups
52 validated 'species-associated' amino acid positions distinguish human from avian influenza A viruses
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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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Proteomic profiling of gamma-secretase substrates and mapping of substrate requirements.
PMID 18942891 · PMC2570425 · PLoS biology · 2008 · 8 claims · 5 setups
An unbiased SILAC-based proteomic screen identified a relatively small cohort of γ-secretase substrates among thousands of proteins in HeLa cells, all of which are type I transmembrane proteins.
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New generic primer system targeting mucosal/genital and cutaneous human papillomaviruses leads to the characterization of HPV 115, a novel Beta-papillomavirus species 3.
PMID 19948351 · PMC2813930 · Virology · 2010 · 8 claims · 8 setups
The new CUT primer system detects a broader range of HPV genera/species and novel putative types than the FAP primer system (p<0.01)
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Has reproduction · 100
The liver as an immunological barrier redefined by single-cell analysis.
PMID 32176810 · PMC7218664 · Immunology · 2020 · 8 claims · 8 setups
Single-cell RNA-seq enables unbiased characterization of liver cell states, developmental trajectories and rare immune populations that bulk averaging obscures, redefining liver cell-type mapping.
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Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system.
PMID 16948859 · PMC1569827 · BMC biotechnology · 2006 · 7 claims · 7 setups
pREAL, fusing cya fragments T25 and T18 around a cloning site, produces catalytically active adenylate cyclase only when the inserted human DNA lacks a PSC
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Ankyrin-linked hereditary spherocytosis in an African-American kindred.
PMID 18704959 · PMC11304496 · American journal of hematology · 2008 · 6 claims · 7 setups
A novel heterozygous initiator methionine mutation (ATG→ATA, Met1Ile), termed ankyrin New Haven, was identified in exon 1 of the ankyrin-1 gene as the cause of HS in this kindred.
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Mutational analysis of p80 coilin indicates a functional interaction between coiled bodies and the nucleolus.
PMID 7490287 · PMC2200013 · The Journal of cell biology · 1995 · 8 claims · 7 setups
p80 coilin plays an important role in subnuclear organization and there is a functional interaction between coiled bodies and nucleoli