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
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.
-
Full-text index only
Screening large-scale association study data: exploiting interactions using random forests.
PMID 15588316 · PMC545646 · BMC genetics · 2004 · 7 claims · 3 setups
Random forest importance measure significantly outperforms the Fisher Exact test as a screening tool when risk SNPs interact.
-
Full-text index only
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.
-
Full-text index only
Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.
PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups
The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect
-
Full-text index only
The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.
PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups
No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls
-
Full-text index only
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
-
Full-text index only
A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site.
PMID 18694864 · PMC3124709 · Hormones (Athens, Greece) · 2008 · 5 claims · 3 setups
The COL1A1 3'UTR 4bp insertion polymorphism (A1/A2 alleles) is not associated with LDD in young male Greek subjects
-
Full-text index only
HFE H63D mutation frequency shows an increase in Turkish women with breast cancer.
PMID 16503999 · PMC1402308 · BMC cancer · 2006 · 6 claims · 2 setups
HFE H63D allele frequency is significantly higher in Turkish breast cancer patients (22.2%) than in healthy controls (14%)
-
Full-text index only
Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.
PMID 17477860 · PMC1871603 · BMC genetics · 2007 · 7 claims · 5 setups
DGAT2 is a plausible positional and functional candidate gene for obesity due to its localization at chr.11q13 (a linkage region) and its key role in triglyceride synthesis
-
Full-text index only
The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.
PMID 18781223 · PMC2532703 · Molecular vision · 2008 · 8 claims · 4 setups
None of the three MFRP sequence variants tested (rs3814762, rs36015759, rs2510143) showed a statistically significant association with acute angle-closure glaucoma
-
Full-text index only
Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.
PMID 10584868 · PMC2374316 · British journal of cancer · 1999 · 8 claims · 5 setups
LOH at chromosome 16q21-q22.1 occurs in 100% of informative lobular breast tumours, the highest frequency of any region tested
-
Full-text index only
BABELOMICS: a systems biology perspective in the functional annotation of genome-scale experiments.
PMID 16845052 · PMC1538844 · Nucleic acids research · 2006 · 8 claims · 8 setups
Babelomics is presented as an updated, complete suite of web tools for functional analysis of genome-scale experiments with new and improved modules
-
Full-text index only
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
-
Full-text index only
Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
PMID 20029656 · PMC2796875 · Molecular vision · 2009 · 6 claims · 5 setups
No disease-causing mutations in COL4A3 or COL4A4 were found to be related to KC.
-
Full-text index only
Mutation analysis of the AATF gene in breast cancer families.
PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups
No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk
-
Full-text index only
PALB2 variants in hereditary and unselected Finnish prostate cancer cases.
PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups
None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland
-
Full-text index only
Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.
PMID 15799788 · PMC1079843 · BMC medical genetics · 2005 · 8 claims · 7 setups
Systematic screening of TPH1 exons and promoter region in Taiwanese Han identified five sequence variants: A-1067G, G-347T, T3804A, C27224T, A27237G.
-
Full-text index only
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
-
Full-text index only
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.
-
Full-text index only
Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.
PMID 18803811 · PMC2556318 · BMC medical genetics · 2008 · 8 claims · 7 setups
CDKN2A germline mutations were found in 7 of 25 (28.0%) Slovenian melanoma families