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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Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome.
PMID 16700915 · PMC1482678 · Cardiovascular diabetology · 2006 · 8 claims · 6 setups
A haplotype of three AdipoR2 variants (+795G/A, +870C/A, +963C/T) in perfect linkage disequilibrium is associated with higher plasma adiponectin levels and lower fasting triglyceride, VLDL-triglyceride, and VLDL-cholesterol levels
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Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.
PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups
Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.
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Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.
PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups
Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups
INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype
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X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
PMID 19654509 · PMC2763399 · Clinical dysmorphology · 2009 · 7 claims · 5 setups
A 21bp in-frame insertion causing a 7-alanine expansion in the SOX3 polyalanine tract causes X-linked isolated growth hormone deficiency (IGHD) without learning disability.
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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
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
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Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor.
PMID 19657311 · PMC2767399 · Pancreas · 2009 · 8 claims · 6 setups
A homozygous P86S mutation in GCGR is associated with hyperglucagonemia and α cell hyperplasia in the patient
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Has reproduction · 66
RNAseq analysis of the parasitic nematode Strongyloides stercoralis reveals divergent regulation of canonical dauer pathways.
PMID 23145190 · PMC3493385 · PLoS neglected tropical diseases · 2012 · 8 claims · 8 setups
S. stercoralis possesses homologs of nearly all C. elegans dauer genes, but with significant differences in protein structure, developmental regulation, and gene family expansion.
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Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups
16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis
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A novel germline mutation of PTEN associated with brain tumours of multiple lineages.
PMID 12085208 · PMC2746590 · British journal of cancer · 2002 · 8 claims · 6 setups
A novel heterozygous germline PTEN mutation (Arg234Gln, R234Q) was identified in a patient with glioma and prior meningioma
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Has reproduction · 48
Irisin ameliorates obesity and insulin resistance via adipose tissue IL-33 and regulatory T cells.
PMID 41933175 · PMC13052164 · Nature metabolism · 2026 · 8 claims · 8 setups
Irisin modulates adipose tissue inflammation by increasing IL-33 production and preserving ST2+ regulatory T cells in white adipose tissues, thereby improving obesity and glucose intolerance.
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Molecular helminthology in the Rockies. Keystone Symposium on Molecular Helminthology, Copper Mountain, Colorado, USA, 9-13 April 2005.
PMID 15998458 · PMC1175981 · Genome biology · 2005 · 8 claims · 8 setups
The Schistosoma mansoni genome (~300 Mb) is nearing completion via whole-genome shotgun sequencing at ninefold coverage, with an estimated 15,000-20,000 protein-coding genes
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Pancreatic tumours: molecular pathways implicated in ductal cancer are involved in ampullary but not in exocrine nonductal or endocrine tumorigenesis.
PMID 11161385 · PMC2363700 · British journal of cancer · 2001 · 8 claims · 6 setups
PDC shows frequent alterations of K-ras, p53, p16 and DPC4, confirming these as the core molecular fingerprint of ductal cancer
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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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Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.
PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups
Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts
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Evolutionarily conserved human targets of adenosine to inosine RNA editing.
PMID 15731336 · PMC549564 · Nucleic acids research · 2005 · 8 claims · 6 setups
Identified four novel human ADAR editing substrates causing amino acid changes: FLNA, BLCAP, CYFIP2 and IGFBP7
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Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.
PMID 20003313 · PMC2797770 · Cardiovascular diabetology · 2009 · 7 claims · 6 setups
The Val/Met255 mutation (G→A substitution at codon 255) in HNF4α is present at a considerable frequency among Iranian clinical MODY patients
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With the finished human genome in hand, what next?
PMID 12844356 · PMC193627 · Genome biology · 2003 · 8 claims · 8 setups
Gene Ontology (GO) provides a syntax/query framework for functional classification of genes, expanding beyond E. coli origins into anatomy, pathology, and phenotype data.
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Has reproduction · 83
De novo identification of CD4(+) T cell epitopes.
PMID 38658646 · PMC11093748 · Nature methods · 2024 · 7 claims · 8 setups
SABR-IIs (chimeric receptors linking a covalently attached peptide-MHC-II to CD28-CD3ζ signaling domains) present epitopes to CD4+ T cells and induce a readable NFAT-GFP/CD69 signal upon cognate TCR recognition