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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Detection of an Ala601Thr mutation of plasminogen gene in 3 out of 36 Korean patients with deep vein thrombosis.
PMID 12692411 · PMC3055032 · Journal of Korean medical science · 2003 · 7 claims · 3 setups
Dysplasminogenemia was identified in 3 of 36 (8.3%) unrelated Korean DVT patients.
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Has reproduction · 69
Clinical and molecular correlation defines activity of physiological pathways in life-sustaining kidney xenotransplantation.
PMID 37311769 · PMC10264453 · Nature communications · 2023 · 7 claims · 8 setups
Porcine kidney xenografts transplanted into NHPs show only modest growth over time.
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Human blood plasma preparation for two-dimensional gel electrophoresis.
PMID 17174613 · PMC7105212 · Journal of chromatography. B, Analytical technologies in the biomedical and life sciences · 2007 · 8 claims · 6 setups
Plasma protein concentrations reflect the physiological/health state of an individual and can serve as disease biomarkers
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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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Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
PMID 17223989 · PMC1859977 · Clinical endocrinology · 2007 · 7 claims · 5 setups
MC2R mutations can be found in children diagnosed with salt-losing forms of adrenal hypoplasia
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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
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%)
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A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups
A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred
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Has reproduction · 94
Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use.
PMID 38167725 · PMC10762034 · Nature communications · 2024 · 7 claims · 8 setups
FASN activity critically determines the use/incorporation of dietary PUFA into complex lipids in mice and humans
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Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.
PMID 20011602 · PMC2788243 · PloS one · 2009 · 8 claims · 8 setups
A novel heterozygous Trp1197Stop (W1197X) mutation in the ACE gene causes a 13-fold increase in blood ACE activity in an African-American family
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Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations.
PMID 18433462 · PMC2632602 · Journal of thrombosis and haemostasis : JTH · 2008 · 6 claims · 6 setups
A novel 14 bp deletion in intervening sequence L (putative branch point of intron L), which likely impairs PROS1 pre-mRNA splicing, was found in all family members with low free protein S.
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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
Monozygotic twin A (severe hemophilia A, FVIII:C <1%) shows complete nonrandom X-inactivation skewed toward the paternal (normal factor VIII) X-chromosome
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Has reproduction · 78
The cold-induced lipokine 12,13-diHOME promotes fatty acid transport into brown adipose tissue.
PMID 28346411 · PMC5699924 · Nature medicine · 2017 · 8 claims · 8 setups
12,13-diHOME is a cold-induced lipokine that stimulates BAT activity
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Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene.
PMID 11953843 · PMC2364178 · British journal of cancer · 2002 · 7 claims · 5 setups
Heterozygosity for the IVS14+1G>A DPYD splice-site mutation is associated with markedly reduced 5-FU clearance and severe 5-FU toxicity in the index patient.
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A novel method of screening thrombin-inhibiting DNA aptamers using an evolution-mimicking algorithm.
PMID 16002787 · PMC1174901 · Nucleic acids research · 2005 · 8 claims · 5 setups
An evolution-mimicking algorithm (EMA) that shuffles and mutates loop sequences while keeping the G-quartet intact can screen DNA aptamers based on inhibitory activity rather than binding affinity.
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Has reproduction · 29
CD74 deficiency protects against doxorubicin cardiotoxicity through RRM2-mediated regulation of ferroptosis.
PMID 42180553 · PMC13198236 · Acta pharmaceutica Sinica. B · 2026 · 8 claims · 8 setups
CD74 levels are elevated in plasma of DOX-exposed breast cancer patients and in DOX-challenged mouse hearts and cardiomyocytes
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Has reproduction
Brown fat activation reduces hypercholesterolaemia and protects from atherosclerosis development.
PMID 25754609 · PMC4366535 · Nature communications · 2015 · 7 claims · 8 setups
β3-AR agonist-mediated BAT activation reduces plasma triglycerides and cholesterol and protects against atherosclerosis development in APOE*3-Leiden.CETP mice.
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Use of proteomics for validation of the isolation process of clotting factor IX from human plasma.
PMID 19819359 · PMC2818390 · Journal of proteomics · 2010 · 8 claims · 8 setups
Proteomic techniques (LC-MS/MS, iTRAQ, immunochemical/biochemical methods) can monitor and validate each production step of pd F IX isolation
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Proteomic characterization of plasma-derived clotting factor VIII-von Willebrand factor concentrates.
PMID 19768705 · PMC3030255 · Electrophoresis · 2009 · 8 claims · 8 setups
Commercial plasma-derived FVIII/VWF concentrates contain significant amounts of non-FVIII/VWF plasma proteins as impurities
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New perspectives on an old disease: proteomics in cancer research.
PMID 17472735 · PMC1895992 · Genome biology · 2007 · 8 claims · 8 setups
The HUPO Plasma Proteome Project has catalogued over 3,020 non-redundant gene products (>7,000 proteins/isoforms) in human plasma, many originating from tissues/organs rather than being plasma-intrinsic.