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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Sources of variability and effect of experimental approach on expression profiling data interpretation.
PMID 11936955 · PMC65691 · BMC bioinformatics · 2002 · 8 claims · 7 setups
Intra-patient tissue heterogeneity (different regions of the same biopsy) is often the greatest source of variability in expression profiling
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The role of X-chromosome inactivation in female predisposition to autoimmunity.
PMID 11056674 · PMC17816 · Arthritis research · 2000 · 6 claims · 2 setups
Skewed X-chromosome inactivation in the thymus could lead to inadequate thymic deletion of T cells reactive to X-linked polymorphic self-antigens, predisposing to autoimmunity
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Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene.
PMID 11953843 · PMC2364178 · British journal of cancer · 2002 · 7 claims · 5 setups
Heterozygosity for the IVS14+1G>A DPYD splice-site mutation is associated with markedly reduced 5-FU clearance and severe 5-FU toxicity in the index patient.
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Experimental identification and in silico prediction of bacterivory in green algae.
PMID 33649548 · PMC8245530 · The ISME journal · 2021 · 7 claims · 6 setups
Five prasinophyte strains (Pterosperma cristatum NIES626, Pyramimonas parkeae CCMP726, Pyramimonas parkeae NIES254, Nephroselmis pyriformis RCC618, Dolichomastix tenuilepis CCMP3274) ingest live fluorescently labeled bacteria, detected by microscopy and/or flow cytometry
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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups
No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.
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Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes.
PMID 16336637 · PMC1325051 · BMC medical genetics · 2005 · 7 claims · 5 setups
GLUT10 (SLC2A10) is a facilitative glucose transporter gene mapped within the T2DM-linked chromosome 20q12-13.1 region
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Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.
PMID 15842729 · PMC1097726 · BMC genomics · 2005 · 7 claims · 4 setups
The ancestral haplotype AH 18.2 (DR3-TNFa1b5) confers significantly increased T1D risk compared to other DR3-positive haplotypes in the Spanish population.
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Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups
CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.
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The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.
PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups
BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans
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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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Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.
PMID 18927607 · PMC2559870 · PloS one · 2008 · 8 claims · 5 setups
No pathogenic mutations were found in LRRK2, PRKN, or ATXN3 in a Nigerian cohort of apparently sporadic PD patients.
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Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups
A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant
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Validation of pooled genotyping on the Affymetrix 500 k and SNP6.0 genotyping platforms using the polynomial-based probe-specific correction.
PMID 20003400 · PMC2806376 · BMC genetics · 2009 · 7 claims · 4 setups
Pooled genotyping on the Affymetrix 500k platform using PPC yields highly accurate allele frequency estimates (correlation 0.988) comparable to or better than the 10k/100k platforms.
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Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
PMID 19765279 · PMC2760583 · BMC genomics · 2009 · 8 claims · 5 setups
Global microarray profiling reveals 421 genes differentially expressed in DBA patient fibroblasts compared to healthy controls
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Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis.
PMID 17163998 · PMC1762011 · BMC gastroenterology · 2006 · 7 claims · 2 setups
The ACE I/D polymorphism shows no significant association with TCP or FCPD pathogenesis, fibrosis, or progression
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Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.
PMID 18631405 · PMC2496902 · BMC medical genetics · 2008 · 7 claims · 2 setups
The Flt-1 d(TG)n repeat polymorphism is not associated with the development of preeclampsia in Korean pregnant women
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A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.
PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups
A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing
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Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.
PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups
The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD
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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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PRESTO: rapid calculation of order statistic distributions and multiple-testing adjusted P-values via permutation for one and two-stage genetic association studies.
PMID 18620604 · PMC2483288 · BMC bioinformatics · 2008 · 8 claims · 4 setups
PRESTO is an order of magnitude faster than other existing permutation testing software for genetic association studies.