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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Has reproduction · 83
Cold-Induced Lipoprotein Clearance in Cyp7b1-Deficient Mice.
PMID 35478959 · PMC9038073 · Frontiers in cell and developmental biology · 2022 · 7 claims · 8 setups
Cyp7b1 deficiency blunts cold-induced hepatic Cyp7b1 upregulation and plasma bile acid synthesis
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Alstrom syndrome (OMIM 203800): a case report and literature review.
PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups
The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome
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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
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.
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Cannabinoid type-1 receptor gene polymorphisms are associated with central obesity in a Southern Brazilian population.
PMID 18776593 · PMC3827795 · Disease markers · 2008 · 8 claims · 5 setups
The CNR1 4895G allele is associated with waist-to-hip ratio (WHR)
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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
ApoE E4 allele does not significantly modify the association between alcohol consumption and risk of ischemic stroke in subjects <65 years
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Genetic Dissection of Tissue-Specific Apolipoprotein E Function for Hypercholesterolemia and Diet-Induced Obesity.
PMID 26695075 · PMC4687855 · PloS one · 2015 · 8 claims · 8 setups
Hepatocyte apoE is required for normal VLDL production and protects against diet-induced dyslipidemia
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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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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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TFEB deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality.
PMID 33516944 · PMC7903014 · Molecular metabolism · 2021 · 7 claims · 8 setups
BAT whitening at thermoneutrality is associated with TFEB-dependent mitochondrial degradation.
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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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Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.
PMID 16429166 · PMC1342637 · PLoS genetics · 2005 · 8 claims · 5 setups
PANTHER subPSEC scores correctly predicted the functional impact of >94% (16/17) of tested naturally occurring ABCA1 variants
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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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Effects of Pharmacological Thermogenic Adipocyte Activation on Metabolism and Atherosclerotic Plaque Regression.
PMID 30813320 · PMC6412269 · Nutrients · 2019 · 8 claims · 7 setups
Chronic dietary CL316,243 treatment reduces adiposity and enhances body weight loss independent of food intake in LDLR-deficient mice
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Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations.
PMID 17640344 · PMC1939985 · BMC medical genetics · 2007 · 8 claims · 5 setups
Significant differences in 3'APOB-VNTR allele and genotype frequencies exist between Hei Yi Zhuang and Han populations