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 18

System / cell line: allele ✕ Assay: plasma ✕ Clear

Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups

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Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)

hypertensive lymphocytes βenac xenopus targeted pcr-rflp plasma
Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

PMID 19818657 · PMC2818284 · Blood cells, molecules & diseases · 2010 · 8 claims · 5 setups

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Common TMPRSS6 polymorphisms (K253E, V736A) are not risk factors for iron deficiency anemia in the general population

white iron-refractory pcr hepg2 complete direct allele-specific
Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

PMID 18645989 · PMC5715470 · American journal of hematology · 2008 · 7 claims · 8 setups

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Monozygotic twin A (severe hemophilia A, FVIII:C <1%) shows complete nonrandom X-inactivation skewed toward the paternal (normal factor VIII) X-chromosome

peripheral cheek genomic twin factor karyotype microsatellite
Multilocus analysis of SNP and metabolic data within a given pathway.

PMID 16412218 · PMC1382210 · BMC genomics · 2006 · 8 claims · 7 setups

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The combinatorial partitioning method (CPM) with optimal thresholds can identify SNPs associated with quantitative metabolite levels rather than only categorical traits.

healthy plasma genomic chi-square combinatorial leave-one-out
Molecular haplotyping by linking emulsion PCR: analysis of paraoxonase 1 haplotypes and phenotypes.

PMID 15886392 · PMC1092276 · Nucleic acids research · 2005 · 7 claims · 4 setups

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LE-PCR (linking PCR combined with emulsion PCR) enables molecular determination of haplotypes at two linked polymorphic loci without specialized instrumentation beyond real-time PCR

leukocyte capped genomic plasma linking quantitative emulsion
Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes.

PMID 18567820 · PMC2518507 · Diabetes · 2008 · 8 claims · 5 setups

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CDC123/CAMK1D rs12779790 risk allele (homozygous) is associated with decreased insulinogenic index, corrected insulin response (CIR), and AUC-insulin/AUC-glucose ratio, indicating impaired insulin release

inter99 same taqman oral general
Nutrigenomics in cardiovascular medicine.

PMID 20031645 · PMC2810265 · Circulation. Cardiovascular genetics · 2009 · 8 claims · 8 setups

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The main problem facing Nutrigenomics is the lack of replication of initially reported gene-diet interactions, which precludes their present application in CVD prevention and treatment.

french framingham individuals general case-control prospective meta-analysis
Apolipoprotein e, alcohol consumption, and risk of ischemic stroke: the Framingham Heart Study revisited.

PMID 19717024 · PMC2743951 · Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2009 · 8 claims · 6 setups

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ApoE E4 allele does not significantly modify the association between alcohol consumption and risk of ischemic stroke in subjects <65 years

framingham plasma genotyping structured clinical
Highlights of international conference of immunogenomics and immunomics, October 8-12, 2006 Budapest, Hungary.

PMID 17470366 · PMC7130317 · Cellular immunology · 2006 · 8 claims · 8 setups

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An 'immunological constant of rejection' involving interferon-stimulated genes (ISGs) and innate immune effector functions (IEF) underlies diverse immune-mediated tissue destruction processes (allograft rejection, cancer rejection, autoimmunity, infection)

hla-b44 plasma macrophages complement proteomics shotgun cap
Genetic and epigenetic contributions to human nutrition and health: managing genome-diet interactions.

PMID 18755320 · PMC5421377 · Journal of the American Dietetic Association · 2008 · 8 claims · 7 setups

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Folate-mediated one-carbon metabolism is a conduit linking the cellular nutrient environment to genome regulation via nucleotide biosynthesis for DNA synthesis and SAM biosynthesis for genome methylation.

yellow premenopausal men humans dietary mthfr plasma
Detection of mutations in EGFR in circulating lung-cancer cells.

PMID 18596266 · PMC3551471 · The New England journal of medicine · 2008 · 8 claims · 7 setups

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The CTC-chip microfluidic device isolates CTCs from NSCLC patients in sufficient quantity and purity to permit EGFR mutational analysis

blood archived nsclc plasma microfluidic allele-specific standard
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
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

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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

subjects nih3t3 subject healthy sequencing luciferase western
A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.

PMID 17554401 · PMC1885554 · International journal of medical sciences · 2007 · 8 claims · 6 setups

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A novel VNTR polymorphism (TTTC repeat) was discovered at -1241 nucleotides in the 5'-flanking region of NPPB, with 8 alleles ranging from 9 to 19 repeats.

genomic plasma serum n=317 pcr-sscp nucleotide genotyping
Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.

PMID 18763667 · PMC3696193 · Connecticut medicine · 2008 · 8 claims · 6 setups

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Combined CYP2C9 and VKORC1 genotype can explain up to 45% of warfarin dose variability

genomic edta plasma cardiac genotyping extraction inr
A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.

PMID 19823678 · PMC2757911 · PloS one · 2009 · 6 claims · 4 setups

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SLC10A2 is a novel susceptibility gene for cholelithiasis in humans

genomic pooled sanger maldi-tof genotype-phenotype
Polymorphic repeat in AIB1 does not alter breast cancer risk.

PMID 11056690 · PMC13920 · Breast cancer research : BCR · 2000 · 7 claims · 3 setups

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AIB1 alleles with 26 or fewer glutamine repeats are not associated with increased breast cancer risk in the general population

peripheral cohort plasma pcr nested plasma
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

Experiments

Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

Multilocus analysis of SNP and metabolic data within a given pathway.

Molecular haplotyping by linking emulsion PCR: analysis of paraoxonase 1 haplotypes and phenotypes.

Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes.

Nutrigenomics in cardiovascular medicine.

Apolipoprotein e, alcohol consumption, and risk of ischemic stroke: the Framingham Heart Study revisited.

Highlights of international conference of immunogenomics and immunomics, October 8-12, 2006 Budapest, Hungary.

Genetic and epigenetic contributions to human nutrition and health: managing genome-diet interactions.

Detection of mutations in EGFR in circulating lung-cancer cells.

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

Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).

A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.

Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.

A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.

Polymorphic repeat in AIB1 does not alter breast cancer risk.

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.