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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Guar gum and similar soluble fibers in the regulation of cholesterol metabolism: current understandings and future research priorities.
PMID 19183750 · PMC2605338 · Vascular health and risk management · 2008 · 8 claims · 8 setups
Soluble fiber consumption consistently reduces plasma total and LDL cholesterol in animal models and human clinical trials
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Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups
Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy
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Identification of novel markers for liver fibrosis in HIV/hepatitis C virus coinfected individuals using genomics-based approach.
PMID 18614866 · PMC2654216 · AIDS (London, England) · 2008 · 8 claims · 6 setups
An 8-marker model combining six serum markers, age, and ART experience predicts liver fibrosis stage with an AUROC of 0.904.
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Acetyl-coenzyme A carboxylase alpha gene variations may be associated with the direct effects of some antipsychotics on triglyceride levels.
PMID 19846279 · PMC2784140 · Schizophrenia research · 2009 · 8 claims · 5 setups
ACACA SNP rs2229416 was previously found significantly associated with hypertriglyceridemia in patients on H1-blocking antipsychotics
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Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups
The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.
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Improved weight management using genetic information to personalize a calorie controlled diet.
PMID 17945020 · PMC2151062 · Nutrition journal · 2007 · 7 claims · 4 setups
Personalizing a weight-management diet using nutrigenetic test results improves long-term BMI reduction and weight loss maintenance compared to a standard diet.
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Discovery and validation of new molecular targets in treating dyslipidemia: the role of human genetics.
PMID 20211435 · PMC3328807 · Trends in cardiovascular medicine · 2009 · 8 claims · 8 setups
Mendelian randomization uses genetic variants as a 'randomized trial of nature' to assess causal relationships between lipid biomarkers and CHD, overcoming confounding and reverse causality limitations of observational epidemiology.
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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups
All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism
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A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups
A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.
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Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.
PMID 18836848 · PMC4319114 · Journal of inherited metabolic disease · 2008 · 7 claims · 8 setups
Synergistic heterozygosity — cumulative heterozygous mutations at multiple loci in functionally related metabolic pathways — can cause physiologically relevant reduction of pathway flux and disease.