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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NTMG (N-terminal Truncated Mutants Generator for cDNA): an automatic multiplex PCR assays design for generating various N-terminal truncated cDNA mutants.
PMID 17488836 · PMC1933230 · Nucleic acids research · 2007 · 7 claims · 1 setups
NTMG automatically generates forward and reverse PCR primer groups for producing N-terminal truncated cDNA mutants from an input cDNA sequence
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Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments.
PMID 15860768 · PMC1087789 · Nucleic acids research · 2005 · 8 claims · 4 setups
Selector oligonucleotides can circularize many distinct genomic restriction fragments in one reaction, enabling parallel amplification with a single universal primer pair instead of multiple target-specific primer pairs
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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups
Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)
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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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Molecular cloning and characterisation of the RESA gene, a marker of genetic diversity of Plasmodium falciparum.
PMID 19816792 · PMC2900597 · Molecular biology reports · 2010 · 8 claims · 8 setups
RESA was cloned from a P. falciparum Dd2 expression library screened with human immune sera, yielding a 1,336 bp insert with a 936 bp ORF encoding a 317-aa protein.
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PRKCA and multiple sclerosis: association in two independent populations.
PMID 16596167 · PMC1420678 · PLoS genetics · 2006 · 8 claims · 8 setups
PRKCA (protein kinase C alpha) on 17q24 is associated with MS in Finnish families
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Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.
PMID 8513767 · PMC1519656 · Environmental health perspectives · 1993 · 7 claims · 4 setups
In vivo hprt mutants from 63 independent donors were molecularly characterized by cDNA and genomic DNA PCR/sequencing.
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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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Autoantibody profiling for the study and treatment of autoimmune disease.
PMID 12223102 · PMC128938 · Arthritis research · 2002 · 8 claims · 8 setups
Custom-fabricated antigen microarrays (spotted on poly-L-lysine-coated glass slides) enable multiplex profiling of autoantibody responses in autoimmune disease sera.
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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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Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.
PMID 19640284 · PMC2726130 · BMC medical genetics · 2009 · 7 claims · 4 setups
The retinoblastoma proband carries a novel constitutive RB1 mutation (g.2056C>G) at position -4 of the 5'UTR Kozak consensus sequence, absent in her father and unaffected sisters
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Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
PMID 18489799 · PMC2413254 · BMC cancer · 2008 · 8 claims · 6 setups
Pathogenic BRCA1/BRCA2 mutations were identified in 294 of 1,010 (29.1%) unrelated high-risk Czech probands
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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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Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.
PMID 18366677 · PMC2324081 · BMC medical genetics · 2008 · 8 claims · 7 setups
Distinct sets of dysregulated genes are found in peripheral blood during the relapse phase versus the remission phase of RRMS