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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Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.
PMID 17142224 · PMC1669776 · Nucleic acids research · 2006 · 8 claims · 8 setups
Pure (GAA·TTC)44+ alleles at the FXN locus are unstable in human somatic cells in vivo, showing both expansions and contractions.
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Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
PMID 16652333 · PMC1828612 · Human mutation · 2006 · 7 claims · 6 setups
FBLN5 missense mutations are associated with ARMD in a European (UK/Dutch) cohort, confirming prior US findings
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Low density DNA microarray for detection of most frequent TP53 missense point mutations.
PMID 15713227 · PMC553977 · BMC biotechnology · 2005 · 7 claims · 6 setups
A double tandem hybridization microarray with 7-nt gap targets and 7-mer capture probes can search for 9 point mutations in TP53 codons 248, 249, and 273
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Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.
PMID 1486847 · PMC1519635 · Environmental health perspectives · 1992 · 8 claims · 3 setups
Somatic K-ras mutations were found in one-third of lung carcinomas studied, but no N-ras mutations were detected.
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Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli.
PMID 17012280 · PMC1636463 · Nucleic acids research · 2006 · 7 claims · 5 setups
DSBs induced at the TRS/vector junction (EcoRV site) generate numerous mutagenic events in flanking sequences, whereas DSBs within the repeat tract (EcoRI site) produce no such mutants
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Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.
PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups
OPTC is a candidate gene involved in POAG pathogenesis
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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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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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Has reproduction · 100
Differential Gene Expression and Methylation Analysis of Melanoma in TCGA Database to Further Study the Expression Pattern of KYNU in Melanoma.
PMID 35893303 · PMC9329910 · Journal of personalized medicine · 2022 · 8 claims · 8 setups
KYNU expression is decreased in melanoma despite a high KYNU mutation rate in the TCGA database
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CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)
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Target cell APOBEC3C can induce limited G-to-A mutation in HIV-1.
PMID 17967058 · PMC2042017 · PLoS pathogens · 2007 · 8 claims · 8 setups
APOBEC3C is necessary and sufficient to induce G-to-A mutation in some HIV-1 strains despite Vif expression
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Analysis of chimpanzee history based on genome sequence alignments.
PMID 18421364 · PMC2278377 · PLoS genetics · 2008 · 8 claims · 6 setups
Bonobos and common chimpanzees separated approximately 1.29 million years ago
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Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.
PMID 18836301 · PMC3196984 · Channels (Austin, Tex.) · 2008 · 8 claims · 4 setups
I781T in CaV1.2 shifts the voltage-dependence of activation and inactivation to hyperpolarized voltages, reproducing the channelopathy-like gating phenotype of CaV1.4 I745T
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Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.
PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups
Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.
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A biomedically enriched collection of 7000 human ORF clones.
PMID 18231609 · PMC2211400 · PloS one · 2008 · 8 claims · 4 setups
Produced and made available over 7000 fully sequence-verified plasmid ORF clones representing over 3400 unique human genes, in both closed (stop codon) and fusion (no stop codon) formats.
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Editing of hnRNP K protein mRNA in colorectal adenocarcinoma and surrounding mucosa.
PMID 16404425 · PMC2361188 · British journal of cancer · 2006 · 7 claims · 8 setups
A G274A base substitution in hnRNP K mRNA is present in colorectal tumours and surrounding mucosa but absent from corresponding genomic DNA, indicating an RNA editing event rather than a germline polymorphism.
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Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.
PMID 34779495 · PMC8611403 · Oncology reports · 2022 · 8 claims · 8 setups
NF1 is highly expressed in cetuximab-sensitive CRC cell lines and minimally expressed in cetuximab-resistant ones
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Introduction of in vitro transcribed ENO1 mRNA into neuroblastoma cells induces cell death.
PMID 16359544 · PMC1327688 · BMC cancer · 2005 · 8 claims · 6 setups
ENO1 has tumour suppressor activity
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Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.
PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups
Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.
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Mutations in the C-terminus of the X protein of hepatitis B virus regulate Wnt-5a expression in hepatoma Huh7 cells: cDNA microarray and proteomic analyses.
PMID 18477650 · PMC2443277 · Carcinogenesis · 2008 · 8 claims · 7 setups
HBx C-terminal deletion mutants (HBx3'-30 and HBx3'-40) produce differentially expressed gene and protein profiles in transfected Huh7 HCC cells, mostly involving transcriptional regulation, oncogenes/tumor suppressors, cell junctions, signal transduction, metabolism and immune response