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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Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups
Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls
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Discovery and validation of new molecular targets in treating dyslipidemia: the role of human genetics.
PMID 20211435 · PMC3328807 · Trends in cardiovascular medicine · 2009 · 8 claims · 8 setups
Mendelian randomization uses genetic variants as a 'randomized trial of nature' to assess causal relationships between lipid biomarkers and CHD, overcoming confounding and reverse causality limitations of observational epidemiology.
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Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.
PMID 20040103 · PMC2808306 · BMC medical genetics · 2009 · 6 claims · 5 setups
Long form DRD4 uVNTR alleles (≥5 repeats) are associated with increased risk of schizophrenia
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A simple and efficient algorithm for genome-wide homozygosity analysis in disease.
PMID 19756043 · PMC2758715 · Molecular systems biology · 2009 · 8 claims · 4 setups
A genome-wide AH analysis (GAHA) algorithm can identify disease-associated loci by comparing frequencies of homozygous segments between cases and controls using a z-statistic proportion test
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Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.
PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups
Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls
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MTHFR 677C>T and ACE D/I polymorphisms in migraine: a systematic review and meta-analysis.
PMID 19925624 · PMC3071567 · Headache · 2010 · 6 claims · 3 setups
The MTHFR 677TT genotype is associated with increased risk of migraine with aura but not migraine without aura
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CGHPRO -- a comprehensive data analysis tool for array CGH.
PMID 15807904 · PMC1274268 · BMC bioinformatics · 2005 · 8 claims · 3 setups
CGHPRO is a user-friendly, versatile, stand-alone Java tool for normalization, visualization, breakpoint detection and comparative analysis of array-CGH data
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Exploring microproteins from various model organisms using the mip-mining database.
PMID 37919660 · PMC10623795 · BMC genomics · 2023 · 5 claims · 4 setups
Mip-mining is a database of 336 curated RNA-seq datasets from 8626 samples across nine species, built specifically to explore microprotein functions under stress and disease conditions
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Rare-type mutations of MMAC1 tumor suppressor gene in human glioma cell lines and their tumors of origin.
PMID 10551321 · PMC5926156 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 6 setups
6 of 10 glioma cell lines examined showed MMAC1 mutations with presumed loss of heterozygosity (LOH)
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.
PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups
A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent
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Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.
PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups
None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)
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Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.
PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups
Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.
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Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.
PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups
SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+
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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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VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.
PMID 17204151 · PMC1781940 · BMC musculoskeletal disorders · 2007 · 7 claims · 5 setups
The T allele of VEGF +936 (rs3025039) is significantly less frequent in PsA cases than in controls, suggesting a protective effect against PsA.
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Interaction between two independent CNR1 variants increases risk for cocaine dependence in European Americans: a replication study in family-based sample and population-based sample.
PMID 19052543 · PMC2879626 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009 · 8 claims · 8 setups
The interaction between SNP3^G+ genotypes and SNP8^T/T genotype significantly increases risk for cocaine dependence in EA family and EA case-control samples.
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Association of GSK3B with Alzheimer disease and frontotemporal dementia.
PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups
The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort
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Assessing batch effects of genotype calling algorithm BRLMM for the Affymetrix GeneChip Human Mapping 500 K array set using 270 HapMap samples.
PMID 18793462 · PMC2537568 · BMC bioinformatics · 2008 · 8 claims · 4 setups
Batch size affects genotype calling results (call rate and concordance) and the resulting lists of significantly associated SNPs.
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Coffee, caffeine-related genes, and Parkinson's disease: a case-control study.
PMID 18759349 · PMC4554698 · Movement disorders : official journal of the Movement Disorder Society · 2008 · 8 claims · 5 setups
Coffee drinking (ever/never or by cups/day) was not associated with PD susceptibility
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Genetic and functional association of FAM5C with myocardial infarction.
PMID 18430236 · PMC2383879 · BMC medical genetics · 2008 · 8 claims · 5 setups
SNPs within FAM5C show genetic linkage to and association with myocardial infarction in the GENECARD family-based sample