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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In silico comparative genomic analysis of GABAA receptor transcriptional regulation.
PMID 17603907 · PMC1934366 · BMC genomics · 2007 · 8 claims · 8 setups
Previously unreported putative promoters were identified for the β2, γ1, γ3, ε, θ and π GABA A receptor subunit genes
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Multiplex sequencing of paired-end ditags (MS-PET): a strategy for the ultra-high-throughput analysis of transcriptomes and genomes.
PMID 16840528 · PMC1524903 · Nucleic acids research · 2006 · 7 claims · 5 setups
MS-PET, which dimerizes PETs prior to 454 multiplex sequencing, achieves an approximate 100-fold efficiency increase over standard Sanger-based PET analysis
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High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.
PMID 16168118 · PMC1242140 · Breast cancer research : BCR · 2005 · 8 claims · 4 setups
BRCA1 c.5266dupC (5382insC) is the dominant recurrent mutation driving hereditary breast/ovarian cancer in this Czech population
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Mutation analysis in primary immunodeficiency diseases: case studies.
PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups
Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results
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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients
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The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain.
PMID 16733552 · PMC1464830 · PLoS genetics · 2006 · 8 claims · 7 setups
Human and chimp genomes differ by ~35 million single nucleotide substitutions, corresponding to ~1.06% divergence after removing polymorphic sites
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Targeted disruption of the S1P2 sphingosine 1-phosphate receptor gene leads to diffuse large B-cell lymphoma formation.
PMID 19903857 · PMC2973841 · Cancer research · 2009 · 8 claims · 8 setups
S1P2−/− mice develop clonal B-cell lymphomas with age, with ~half affected by 1.5-2 years
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Widespread A-to-I RNA editing of Alu-containing mRNAs in the human transcriptome.
PMID 15534692 · PMC526178 · PLoS biology · 2004 · 8 claims · 6 setups
Intramolecular pairs of oppositely oriented Alu elements within the same pre-mRNA form dsRNA foldback structures that are major substrates for A-to-I RNA editing
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Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.
PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups
Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.
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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups
A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.
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Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma.
PMID 19654294 · PMC2754824 · Cancer research · 2009 · 8 claims · 7 setups
Secondary BRCA2 mutations restore BRCA2 protein/reading frame and thereby cause acquired platinum and PARP inhibitor resistance in BRCA2-mutated ovarian carcinoma
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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups
A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP
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Identification of transcription start sites and preferential expression of select CB2 transcripts in mouse and human B lymphocytes.
PMID 19757078 · PMC2843092 · Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2009 · 7 claims · 8 setups
Human B cells express one CB2 transcript while mouse B cells express three CB2 transcripts
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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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Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
PMID 18637129 · PMC2605190 · Experimental dermatology · 2009 · 8 claims · 5 setups
Strict, rigorous sun protection starting at age 2 resulted in minimal skin disease (only mild lip freckling, no skin cancer) in XP2GO despite an XP diagnosis
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups
INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype
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Transcriptome analysis provides insights into the regulatory function of alternative splicing in antiviral immunity in grass carp (Ctenopharyngodon idella).
PMID 26248502 · PMC4528194 · Scientific reports · 2015 · 8 claims · 8 setups
AS events, including differentially-expressed-transcript-containing genes (DETs), are ubiquitous in head-kidney and spleen transcriptomes of C. idella
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p53 as a potential predictive factor of response to chemotherapy: feasibility of p53 assessment using a functional test in yeast from trucut biopsies in breast cancer patients.
PMID 11875738 · PMC2375302 · British journal of cancer · 2002 · 8 claims · 6 setups
p53 status can be reliably determined by yeast functional assay from single frozen sections of trucut biopsies
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Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
PMID 18626973 · PMC2570015 · Annals of neurology · 2008 · 8 claims · 8 setups
Clinical features of Dok-7 myasthenia are highly variable, ranging from mild static limb-girdle weakness to severe generalized progressive disease
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Lineage-specific gene duplication and loss in human and great ape evolution.
PMID 15252450 · PMC449870 · PLoS biology · 2004 · 8 claims · 7 setups
Genome-wide interspecies cDNA aCGH can identify lineage-specific gene copy number changes across five hominoid species