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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p53 tumor suppressor gene mutations in fibroblast-like synoviocytes from erosion synovium and non-erosion synovium in rheumatoid arthritis.
PMID 15642132 · PMC1064878 · Arthritis research & therapy · 2005 · 8 claims · 4 setups
p53 mutation frequency and type do not differ significantly between erosion and non-erosion FLS
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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups
Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients
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Convergence of mutation and epigenetic alterations identifies common genes in cancer that predict for poor prognosis.
PMID 18507500 · PMC2429944 · PLoS medicine · 2008 · 7 claims · 7 setups
At least 36 of the 189 newly mutated CAN genes are targets of promoter CpG island hypermethylation, often in both colon and breast cancer cell lines
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Incidence of mutation and deletion in topoisomerase II alpha mRNA of etoposide and mAMSA-resistant cell lines.
PMID 11676865 · PMC5926608 · Japanese journal of cancer research : Gann · 2001 · 7 claims · 6 setups
Acquired mutations of the topoisomerase IIα gene are an important and frequent mechanism of resistance to topoisomerase II inhibitors, independent of the degree of resistance.
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High resolution melting for mutation scanning of TP53 exons 5-8.
PMID 17764544 · PMC2025602 · BMC cancer · 2007 · 7 claims · 5 setups
HRM is an effective technique for rapid scanning of TP53 mutations that can markedly reduce required sequencing
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BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
PMID 18497862 · PMC2375115 · PLoS genetics · 2008 · 8 claims · 6 setups
BRCA1 and BRCA2 pathogenic mutation carriers have similar post-irradiation LCL gene expression profiles to each other, more so than to BRCAX samples without an LCS variant
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Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.
PMID 19826477 · PMC2757721 · PloS one · 2009 · 8 claims · 8 setups
Homozygous mutations of oncogenes are frequent (20%) across 833 cancer cell lines of 12 tumor types in the Sanger 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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Has reproduction · 58
The Li2 mutation results in reduced subgenome expression bias in elongating fibers of allotetraploid cotton (Gossypium hirsutum L.).
PMID 24598808 · PMC3944810 · PloS one · 2014 · 8 claims · 7 setups
The Li2 mutation significantly reduces subgenome (homeolog) expression bias in the elongating fiber transcriptome.
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BCoR-L1 variation and breast cancer.
PMID 17697391 · PMC2206730 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups
BCoR-L1 expression does not play a large role in predisposition to familial breast cancer
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An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer.
PMID 18676830 · PMC2680495 · Cancer research · 2008 · 8 claims · 5 setups
PIK3CA mutations are more common in hormone receptor-positive and HER2-positive tumors than in basal-like breast cancers
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Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.
PMID 19760750 · PMC2784016 · Human mutation · 2009 · 8 claims · 6 setups
Two-round fast COLD-PCR followed by Sanger sequencing detects TP53 mutations at abundances as low as ~1%, below the sensitivity of conventional Sanger sequencing (~20-25%)
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Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas.
PMID 18790768 · PMC2651569 · Molecular cancer therapeutics · 2008 · 8 claims · 6 setups
CDK4 mutations (K22Q, R24C, R24L) alone do not confer resistance to the BRAF inhibitor SB590885
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Integrative analysis of RUNX1 downstream pathways and target genes.
PMID 18671852 · PMC2529319 · BMC genomics · 2008 · 7 claims · 8 setups
Integrating gene expression profiles from three independent RUNX1 perturbation platforms (FPD-AML patient cell lines, RUNX1/CBFβ overexpression in HeLa cells, Runx1 knockout mouse embryos) identifies RUNX1-regulated genes and downstream pathways
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Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.
PMID 18302774 · PMC2266716 · BMC medical genetics · 2008 · 8 claims · 4 setups
The SNF2L gene spans 77 kb and is encoded by 25 exons that undergo alternative splicing to generate multiple distinct transcripts.
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Genomic mutation rates: what high-throughput methods can tell us.
PMID 19644920 · PMC2952423 · BioEssays : news and reviews in molecular, cellular and developmental biology · 2009 · 8 claims · 8 setups
High-throughput DNA analyses yield genome mutation rate estimates markedly higher than those obtained with pre-genomic strategies
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Frameshift mutations at mononucleotide repeats in RAD50 recombinational DNA repair gene in colorectal cancers with microsatellite instability.
PMID 11429044 · PMC5926751 · Japanese journal of cancer research : Gann · 2001 · 6 claims · 3 setups
RAD50 (A)9 mononucleotide repeat is frequently frameshift-mutated in MSI-H colorectal cancer cell lines and primary tumors
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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
PMID 17704778 · PMC2872770 · Nature genetics · 2007 · 8 claims · 6 setups
Mutations in UPF3B cause syndromic (Lujan-Fryns syndrome, FG syndrome) and nonsyndromic X-linked mental retardation
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B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis.
PMID 17311103 · PMC1794595 · PloS one · 2007 · 5 claims · 4 setups
B-RAF and N-RAS mutation status is well preserved (strongly concordant) between tumor tissue biopsies and corresponding short-term in vitro propagated cell lines.
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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