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).

Publications 1.3k Datasets 392.5k Experiments 38

System / cell line: caucasian ✕ Assay: blood ✕ Clear

Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.

PMID 15212689 · PMC441379 · BMC medical genetics · 2004 · 8 claims · 3 setups

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Arg25Pro heterozygous genotype is significantly less frequent in CLP patients (3.3%) than in healthy controls (16.7%)

peripheral genomic platelet-poor real-time sanger enzyme-linked
Tri-nucleotide threading for parallel amplification of minute amounts of genomic DNA.

PMID 16582098 · PMC1421508 · Nucleic acids research · 2006 · 6 claims · 5 setups

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TnT enables parallel amplification of 75 SNPs from sub-nanogram amounts of genomic DNA

genomic dbsnp tnt duplex bioinformatic
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

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Nuclear β-catenin expression in GEJ adenocarcinoma cell lines correlates with enhanced TCF-mediated reporter gene transcription

gej paired showing tumours tcf pcr-sscp bidirectional
Alstrom syndrome (OMIM 203800): a case report and literature review.

PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups

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The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome

genomic healthy proband pcr pcr-rflp plasma
CCL genes in multiple sclerosis and systemic lupus erythematosus.

PMID 18602166 · PMC5301077 · Journal of neuroimmunology · 2008 · 7 claims · 5 setups

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Previously suggested borderline CCL marker/haplotype associations with MS are rejected after Bonferroni correction for multiple testing

genomic patients 17q11.2-q12 buccal snp linkage hardy-weinberg
Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

PMID 17901921 · PMC3451673 · The journal of headache and pain · 2007 · 8 claims · 3 setups

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The HTR2C Cys23Ser polymorphism is not significantly associated with migraine or migraine with aura in the case-control study

blood-derived migraine pooled allelic case-control meta-analysis
Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility.

PMID 1486838 · PMC1519624 · Environmental health perspectives · 1992 · 7 claims · 8 setups

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A PCR-RFLP DNA-based assay targeting the intron 3/exon 4 G-to-A transition can identify approximately 70-80% of CYP2D6 poor metabolizers (PMs) without drug phenotyping.

blood pcr-rflp
Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

PMID 10027313 · PMC2362434 · British journal of cancer · 1999 · 7 claims · 5 setups

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Allelic distribution of the Cyp19 intron 4 STRP differs significantly between breast cancer cases and controls

peripheral ceph individuals cases strp genotyping fluorescent
Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.

PMID 15598343 · PMC544190 · BMC genetics · 2004 · 6 claims · 4 setups

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A novel TaqMan allelic discrimination assay can reliably genotype the MnSOD -102C>T SNP from diverse DNA sources including blood, buccal swabs, frozen tissue, and paraffin blocks.

genomic paraffin-embedded taqman pcr-restriction automated
Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.

PMID 12107845 · PMC2376109 · British journal of cancer · 2002 · 8 claims · 1 setups

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The SP-B intron 4 gene variant is significantly more frequent in squamous cell lung carcinoma (SCC) patients (25.0%) than in matched controls, OR=3.2, P=0.016

peripheral allele-specific
VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.

PMID 17204151 · PMC1781940 · BMC musculoskeletal disorders · 2007 · 7 claims · 5 setups

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The T allele of VEGF +936 (rs3025039) is significantly less frequent in PsA cases than in controls, suggesting a protective effect against PsA.

blood same subject psa snp allele hardy-weinberg
Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.

PMID 17565693 · PMC1920519 · BMC genomics · 2007 · 8 claims · 4 setups

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42 different CNVs were detected in 27 phenotypically normal individuals using 1 Mb resolution BAC array-CGH

genomic metaphase computational array-cgh fish real-time
Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.

PMID 19956714 · PMC2776354 · PloS one · 2009 · 8 claims · 5 setups

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3,019 CNVs (2,381 autosomal, 638 X chromosome) were identified across 985 Caucasian and 692 Asian individuals using the Affymetrix 500K array

same caucasian cau autosomal snp copy population
Negative emotionality: monoamine oxidase B gene variants modulate personality traits in healthy humans.

PMID 19657584 · PMC3653168 · Journal of neural transmission (Vienna, Austria : 1996) · 2009 · 7 claims · 7 setups

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MAOB SNPs rs10521432 and rs6651806 are significantly associated with Negative Emotionality in healthy volunteers

healthy genotype maoa snp multidimensional profile
Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

PMID 17700570 · PMC2360390 · British journal of cancer · 2007 · 8 claims · 3 setups

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Germline protein-truncating BRCA2 mutations confer an elevated relative risk (~7.8-fold) of early-onset prostate cancer in Caucasian men

peripheral population-based same germline epidemiological genotype-phenotype
Synergistic effects of the MTHFR C677T polymorphism and hypertension on spatial navigation.

PMID 19013496 · PMC2685204 · Biological psychology · 2009 · 7 claims · 4 setups

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Hypertensive carriers of the MTHFR 677T allele show significantly worse spatial navigation (longer distance to platform) than hypertensive C677C homozygotes

healthy same buccal virtual blood mthfr
The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study.

PMID 17615072 · PMC2206364 · Arthritis research & therapy · 2007 · 8 claims · 2 setups

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The ITGAV rs3738919-C allele is significantly associated with rheumatoid arthritis in European Caucasian trio families

genomic same pcr-restriction affected
Integrative bioinformatics and artificial intelligence analyses of transcriptomics data identified genes associated with major depressive disorders including NRG1.

PMID 37583471 · PMC10423927 · Neurobiology of stress · 2023 · 7 claims · 5 setups

Has reproduction · 66

Differentially expressed genes in MDD patients are enriched in immune response, inflammatory response, neurodegeneration, and cerebellar atrophy pathways.

blood transcriptomic postmortem saliva gsea machine differential
Population carrier frequency of hMSH2 and hMLH1 mutations.

PMID 11104559 · PMC2363440 · British journal of cancer · 2000 · 6 claims · 6 setups

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Population carrier frequency of hMSH2/hMLH1 mutations in people aged 15-74 years is estimated at 1:3139 (95% CI 1:1247-1:7626)

peripheral scottish finnish baltimore cdna pedigree systematic
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

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A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing

blood variant patients same sscp sanger pcr-rflp

Experiments

Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.

Tri-nucleotide threading for parallel amplification of minute amounts of genomic DNA.

Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.

Alstrom syndrome (OMIM 203800): a case report and literature review.

CCL genes in multiple sclerosis and systemic lupus erythematosus.

Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility.

Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.

Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.

VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.

Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.

Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.

Negative emotionality: monoamine oxidase B gene variants modulate personality traits in healthy humans.

Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

Synergistic effects of the MTHFR C677T polymorphism and hypertension on spatial navigation.

The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study.

Integrative bioinformatics and artificial intelligence analyses of transcriptomics data identified genes associated with major depressive disorders including NRG1.

Population carrier frequency of hMSH2 and hMLH1 mutations.

A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.