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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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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Development of a microtiter plate-based glycosaminoglycan array for the investigation of glycosaminoglycan-protein interactions.
PMID 19729381 · PMC3428902 · Glycobiology · 2009 · 8 claims · 5 setups
Plasma-polymerized allyl amine:octadiene surfaces support non-covalent immobilization of diverse GAGs (heparin, chondroitin-4-sulfate, dermatan sulfate, hyaluronan) in a functionally active, protein-binding state
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Transcription factor binding sites in the pol gene intragenic regulatory region of HIV-1 are important for virus infectivity.
PMID 16061936 · PMC1182164 · Nucleic acids research · 2005 · 8 claims · 6 setups
Oct-1, Oct-2, PU.1, Sp1 and Sp3 interact in vitro with the pol gene HS7 region
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Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.
PMID 16670016 · PMC1513378 · Lipids in health and disease · 2006 · 8 claims · 6 setups
A -987C>T polymorphism located 4bp from the 3' end of the MseI RFLP forward primer causes allelic drop-out, producing incorrect -1131T>C genotypes.
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Has reproduction · 67
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
PMID 41056017 · PMC12646653 · The Journal of clinical investigation · 2025 · 8 claims · 8 setups
Heterozygous CDKL1 missense variants (Cys143Arg, Ser206Leu, Thr135Met) were identified in 6 patients from 3 families with TAAD spectrum disorders
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Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups
The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.
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Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.
PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups
SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+
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Mutation screening of HSF4 in 150 age-related cataract patients.
PMID 18941546 · PMC2569895 · Molecular vision · 2008 · 8 claims · 4 setups
Five new HSF4 sequence variants (c.1020-25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T, c.1286C>T) were found in age-related cataract patients but not in 220 controls.
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N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.
PMID 18402670 · PMC2330028 · BMC medical genetics · 2008 · 7 claims · 6 setups
NAT8 is a novel positional candidate gene for blood pressure and renal function based on its chromosomal location within a BP linkage region and its expression in embryonic/adult kidney and liver
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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups
A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.