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).
-
Full-text index only
Genomic and proteomic profiling I: leiomyomas in African Americans and Caucasians.
PMID 17716379 · PMC2063502 · Reproductive biology and endocrinology : RB&E · 2007 · 7 claims · 6 setups
268 genes (177 over-expressed, 91 under-expressed) are differentially expressed in leiomyomas of African Americans compared to Caucasians (P<0.01, 2-fold cutoff)
-
Full-text index only
Cis sequence effects on gene expression.
PMID 17727713 · PMC2077339 · BMC genomics · 2007 · 6 claims · 4 setups
Approximately one in four genes (8 of 30, 26.7%) exhibit statistically significant cis sequence effects on gene expression in this study, consistent with a literature-wide weighted average of 26.2%
-
Full-text index only
Genetics and functional genomics of type 2 diabetes mellitus.
PMID 14659011 · PMC329413 · Genome biology · 2003 · 7 claims · 5 setups
Genome-wide transcription profiling of diabetic skeletal muscle reveals coordinated downregulation of oxidative phosphorylation genes, converging on PGC1α as a central regulator.
-
Full-text index only
TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
-
Full-text index only
Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.
PMID 16595073 · PMC3500178 · Human genomics · 2006 · 7 claims · 5 setups
A bioinformatics strategy cross-referencing carcinogenesis-related gene lists with breast-tissue expression data can identify candidate breast cancer risk nsSNPs.
-
Full-text index only
SNPs in cancer research and treatment.
PMID 14970847 · PMC2410167 · British journal of cancer · 2004 · 8 claims · 8 setups
SNPs and haplotype-tagging SNPs (ht-SNPs) provide a resource for investigating genetic contributions to cancer susceptibility and outcome while reducing genotyping burden versus testing every SNP
-
Full-text index only
Calibrating the performance of SNP arrays for whole-genome association studies.
PMID 18584036 · PMC2432039 · PLoS genetics · 2008 · 8 claims · 7 setups
Previous SNP array genetic coverage estimates are inflated due to SNP overfitting and sample overfitting, since they were evaluated on the same HapMap SNPs/individuals used to design the arrays.
-
Full-text index only
A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
-
Has reproduction
Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.
PMID 35922433 · PMC9349177 · Nature communications · 2022 · 8 claims · 7 setups
Genome-wide association of six CMR-derived aortic traits in up to 32,590 UK Biobank participants identifies 102 loci (including 27 novel associations) for aortic distensibility and area.
-
Full-text index only
Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.
PMID 14970870 · PMC3215949 · British journal of cancer · 2004 · 8 claims · 7 setups
Nuclear β-catenin expression in GEJ adenocarcinoma cell lines correlates with enhanced TCF-mediated reporter gene transcription
-
Full-text index only
Prevalence of the congenital long-QT syndrome.
PMID 19841298 · PMC2784143 · Circulation · 2009 · 7 claims · 6 setups
The prevalence of LQTS among Caucasian apparently healthy live-births is at least 1:2,534 (95% CI 1:1,583-1:4,350)
-
Has reproduction · 55
Gene module regulation in dilated cardiomyopathy and the role of Na/K-ATPase.
PMID 35901050 · PMC9333241 · PloS one · 2022 · 5 claims · 8 setups
Several co-expressed gene modules are significantly associated with left ventricle ejection fraction (LVEF) and the DCM phenotype, enriched in fibrosis-related, small molecule transporting-related, and immune response-related pathways.
-
Full-text index only
Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
-
Full-text index only
Genetical genomic determinants of alcohol consumption in rats and humans.
PMID 19874574 · PMC2777866 · BMC biology · 2009 · 8 claims · 6 setups
A genetical genomics approach combining brain gene expression, bQTL, and eQTL analysis in HXB/BXH RI rats identifies candidate genes for alcohol consumption
-
Full-text index only
The future is genome-wide.
PMID 16934105 · PMC1779592 · Genome biology · 2006 · 8 claims · 8 setups
Noncoding SNPs near NRG1 associated with schizophrenia likely act by influencing NRG1 expression level
-
Full-text index only
Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).
PMID 16412238 · PMC1368963 · BMC medical genetics · 2006 · 8 claims · 6 setups
A novel PPARG nonsense mutation, Y355X, was identified in a mother and daughter with FPLD3-consistent phenotypes and was absent from unaffected relatives and 260 healthy controls
-
Full-text index only
Genetics and proteomics: deciphering gene association studies in critical illness.
PMID 16934133 · PMC1750993 · Critical care (London, England) · 2006 · 8 claims · 8 setups
Most critical illnesses are complex traits (multifactorial), unlike single-gene Mendelian diseases.
-
Full-text index only
Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene.
PMID 18622261 · PMC2680356 · Pharmacogenetics and genomics · 2008 · 7 claims · 7 setups
UGT2B7 haplotype 4 is associated with increased enzyme activity (M3G and M6G formation)
-
Full-text index only
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
-
Full-text index only
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