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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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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Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.
PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups
Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)
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Associations between hepatitis B virus genotype and mutants and the risk of hepatocellular carcinoma.
PMID 18695135 · PMC2518166 · Journal of the National Cancer Institute · 2008 · 8 claims · 7 setups
HBV genotype C is an independent risk factor for HCC compared with genotype B
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Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.
PMID 16502494 · PMC2687569 · Yonsei medical journal · 2006 · 8 claims · 6 setups
Two patients with congenital nephrogenic diabetes insipidus (NDI) presented with severe bilateral hydronephrosis, megaureter, and a distended bladder in the absence of any urinary tract obstruction.
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A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups
NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay
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Endurance exercise as a countermeasure for aging.
PMID 18716044 · PMC2570389 · Diabetes · 2008 · 8 claims · 8 setups
Reduced insulin sensitivity with age is likely related to adiposity and physical inactivity rather than being an inevitable consequence of aging.
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Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.
PMID 19795005 · PMC2752790 · Journal of Korean medical science · 2009 · 7 claims · 6 setups
The patient has a homozygous D103N point mutation in the MC2R gene, with both parents heterozygous carriers
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Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics.
PMID 19655247 · PMC2903621 · Digestive diseases and sciences · 2009 · 8 claims · 8 setups
Candidate gene association studies with IBS symptom phenotype (e.g., SLC6A4, GNB3, IL-10) have generally produced inconsistent, unreplicated results.
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Has reproduction · 85
GSDME-mediated pyroptosis promotes the progression and associated inflammation of atherosclerosis.
PMID 36807553 · PMC9938904 · Nature communications · 2023 · 8 claims · 8 setups
GSDME-mediated pyroptosis promotes atherosclerosis progression and its associated inflammation
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Has reproduction
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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Has reproduction · 90
The tumour suppressor L(3)mbt inhibits neuroepithelial proliferation and acts on insulator elements.
PMID 21857667 · PMC3173870 · Nature cell biology · 2011 · 8 claims · 8 setups
Brain tumors in l(3)mbt mutants originate from overproliferation of neuroepithelial cells of the optic lobes, not from defects in asymmetric cell division.