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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The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.
PMID 17519028 · PMC1888683 · BMC psychiatry · 2007 · 6 claims · 4 setups
The NRG1 exon 11 missense variant (G>T) is not associated with autism in the CVCR.
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Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.
PMID 17324265 · PMC1810516 · BMC medical genetics · 2007 · 8 claims · 3 setups
Developed a real-time TaqMan PCR method that quantifies PARK2 exon 1-12 copy number by comparing amplification signal to the β-globin internal control gene
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Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.
PMID 18270997 · PMC2909109 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups
The G/A and A/A genotypes of G472A (Val158Met) are point-wise significantly associated with opiate addiction in Hispanic women but not men (P=0.049)
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Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.
PMID 19861964 · PMC2778539 · British journal of cancer · 2009 · 7 claims · 8 setups
BRAF mutations can be detected in serum cfDNA of advanced melanoma patients using an ARMS allele-specific PCR assay
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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.
PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups
Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes
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Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.
PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups
OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.
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Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.
PMID 18036208 · PMC2253505 · BMC medical genetics · 2007 · 7 claims · 3 setups
Improved short, non-overlapping TaqMan MGB probes accurately and simultaneously discriminate the H63D, S65C and C282Y HFE polymorphisms without cross-interference between the closely spaced codon 63/65 SNPs.
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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
PMID 17554261 · PMC2628541 · Nature genetics · 2007 · 8 claims · 8 setups
IRGM SNPs (rs13361189, rs4958847) show strong replicated association with Crohn disease; IRGM induces autophagy and control of intracellular bacteria
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Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups
CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease
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Targeted KRAS mutation assessment on patient tumor histologic material in real time diagnostics.
PMID 19888477 · PMC2768905 · PloS one · 2009 · 8 claims · 5 setups
Q-PCR methods yield informative KRAS mutation results even on very fragmented FFPE-DNA where dideoxy-sequencing fails (p<0.0001)
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K-RAS and P53 mutations in association with COX-2 and hTERT expression and clinico-pathological status of NSCLC patients.
PMID 18957720 · PMC3827803 · Disease markers · 2008 · 8 claims · 6 setups
P53 mutations were identified in 34.4% of NSCLC tumours, most frequently in SCC (55.6%)
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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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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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Alternative splicing of human peroxisome proliferator-activated receptor delta (PPAR delta): effects on translation efficiency and trans-activation ability.
PMID 17705821 · PMC2045109 · BMC molecular biology · 2007 · 8 claims · 8 setups
Multiple alternatively spliced 5'-UTR isoforms of human PPARdelta mRNA differ in translation efficiency
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Mutation analysis of the MSMB gene in familial prostate cancer.
PMID 19997100 · PMC2816656 · British journal of cancer · 2010 · 8 claims · 5 setups
No deleterious mutations were found in the MSMB coding region in 192 familial prostate cancer cases
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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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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