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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Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.
PMID 16707008 · PMC1483898 · BMC cancer · 2006 · 6 claims · 4 setups
Somatic VHL gene alterations (LOH and mutation) may contribute to pathogenesis of MEN2A-associated MTC, similar to their role in MEN2 pheochromocytoma
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Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.
PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups
Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R
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Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas.
PMID 16545110 · PMC1475604 · BMC cancer · 2006 · 8 claims · 4 setups
Smoking is associated with adenoma and CRC development, with the association strongest in tumors lacking APC truncation mutations
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U7 snRNAs: a computational survey.
PMID 18267300 · PMC5054213 · Genomics, proteomics & bioinformatics · 2007 · 8 claims · 6 setups
A computational (BLAST-based) survey identified bona fide U7 snRNA genes with characteristic upstream promoter elements (PSE) across most vertebrate genomes examined, plus numerous pseudogenes.
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'Classical' but not 'other' mutations of EGFR kinase domain are associated with clinical outcome in gefitinib-treated patients with non-small cell lung cancer.
PMID 18000506 · PMC2360265 · British journal of cancer · 2007 · 8 claims · 4 setups
'Classical' EGFR mutations (exon 18 G719X, exon 19 DEL19, exon 21 L858R) are associated with better clinical outcome (disease control) with gefitinib
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Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.
PMID 17728513 · PMC2693823 · Journal of Korean medical science · 2007 · 7 claims · 6 setups
EDS type IV is genetically heterogeneous; not all clinically/biochemically diagnosed patients carry COL3A1 mutations
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Does distance matter? Variations in alternative 3' splicing regulation.
PMID 17704130 · PMC2018619 · Nucleic acids research · 2007 · 8 claims · 7 setups
Alternative 3' splice sites can be distinguished from constitutive splice sites by a combination of sequence/conservation properties that vary depending on the distance between the splice sites.
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Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
PMID 17672902 · PMC1950089 · BMC medical genetics · 2007 · 8 claims · 6 setups
The major APOE haplotype (Hap1) is significantly associated with SAH
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Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.
PMID 17653048 · PMC2776539 · Molecular vision · 2007 · 8 claims · 4 setups
No RP patient among 68 Japanese subjects carried a RHO mutation causing an amino acid substitution
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A functional map of NFkappaB signaling identifies novel modulators and multiple system controls.
PMID 17553156 · PMC2394752 · Genome biology · 2007 · 8 claims · 6 setups
154 positive and 88 negative modulators of NFκB signaling were identified from genomic screens
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BRAF V600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas.
PMID 17453004 · PMC2359941 · British journal of cancer · 2007 · 8 claims · 4 setups
BRAF V600E mutation was found in 4 of 20 (20%) anaplastic thyroid carcinomas overall
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Genetic diversity of swine influenza viruses isolated from pigs during 2000 to 2005 in Thailand.
PMID 19453423 · PMC4941901 · Influenza and other respiratory viruses · 2008 · 8 claims · 6 setups
Phylogenetic analysis revealed nine distinct genotypes among the 12 Thai SIVs examined.
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Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).
PMID 19133980 · PMC4303606 · British journal of haematology · 2009 · 7 claims · 6 setups
Downregulation of GR mRNA in the resistant myeloma cell line is caused by a block to transcriptional elongation within intron B of the GR gene
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Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.
PMID 18836848 · PMC4319114 · Journal of inherited metabolic disease · 2008 · 7 claims · 8 setups
Synergistic heterozygosity — cumulative heterozygous mutations at multiple loci in functionally related metabolic pathways — can cause physiologically relevant reduction of pathway flux and disease.
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High-density SNP genotyping to define beta-globin locus haplotypes.
PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups
RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus
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The impact of peptide abundance and dynamic range on stable-isotope-based quantitative proteomic analyses.
PMID 18798661 · PMC2746028 · Journal of proteome research · 2008 · 8 claims · 7 setups
Over half of confidently identified peptides in complex mixtures have S/N ratios below 10 on both FT-ICR and Orbitrap instruments
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Shotgun proteomic analysis of cerebrospinal fluid using off-gel electrophoresis as the first-dimension separation.
PMID 18778093 · PMC4582942 · Journal of proteome research · 2008 · 6 claims · 4 setups
OGE first-dimension fractionation enabled identification of 156 unique CSF proteins compared to 115 identified using SCX fractionation on the same CSF pool
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Assignment of Streptococcus agalactiae isolates to clonal complexes using a small set of single nucleotide polymorphisms.
PMID 18710585 · PMC2533671 · BMC microbiology · 2008 · 7 claims · 6 setups
A four-SNP set (glnA36, glnA429, glcK180, adhP111) identified via the Not-N algorithm plus empirical testing divides GBS into 10 groups concordant with eBURST-defined population structure.
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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups
dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation
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Highly diversified multiply drug-resistant HIV-1 quasispecies in PBMCs: a case report.
PMID 18513421 · PMC2426714 · Retrovirology · 2008 · 7 claims · 6 setups
HIV-1 quasispecies in PBMCs are more genetically heterogeneous than in plasma