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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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups
All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix
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TccP2-mediated subversion of actin dynamics by EPEC 2 - a distinct evolutionary lineage of enteropathogenic Escherichia coli.
PMID 17526832 · PMC2884950 · Microbiology (Reading, England) · 2007 · 7 claims · 8 setups
tccP2 is present in 26 of 27 (96.2%) EPEC 2 lineage strains and absent from all 34 EPEC 1 strains tested
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Genomics meets nanoscience: probing genes and the cell nucleus at 10-9 meters.
PMID 11897022 · PMC139022 · Genome biology · 2002 · 8 claims · 8 setups
Trans-splicing generates cell-specific protocadherin mRNAs in human neurons
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Centromere-associated protein-E is essential for the mammalian mitotic checkpoint to prevent aneuploidy due to single chromosome loss.
PMID 12925705 · PMC2173788 · The Journal of cell biology · 2003 · 7 claims · 8 setups
CENP-E-null cells cannot sustain a mitotic checkpoint arrest in response to one or a few unattached kinetochores, causing cells to enter anaphase with missegregating chromosomes and become aneuploid
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A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
PMID 18334966 · PMC2268715 · Molecular vision · 2008 · 7 claims · 5 setups
A novel 827C>T transition in GJA8 causes a serine-to-phenylalanine substitution (S276F) associated with dominant congenital pulverulent nuclear cataract in this Chinese family.
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Has reproduction · 87
Inhibition of SARS-CoV-2 Infections in Engineered Human Tissues Using Clinical-Grade Soluble Human ACE2.
PMID 32333836 · PMC7181998 · Cell · 2020 · 8 claims · 7 setups
Clinical-grade hrsACE2 significantly inhibits SARS-CoV-2 infection of Vero-E6 cells in a dose-dependent manner
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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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Detection of p53 mutations in precancerous gastric tissue.
PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups
p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
PMID 16919418 · PMC2842930 · Genomics · 2006 · 8 claims · 8 setups
Human FXN YAC transgenes containing GAA repeat expansions (YG22, YG8) rescue the embryonic lethality of homozygous Fxn knockout mice
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Molecular cloning and characterisation of the RESA gene, a marker of genetic diversity of Plasmodium falciparum.
PMID 19816792 · PMC2900597 · Molecular biology reports · 2010 · 8 claims · 8 setups
RESA was cloned from a P. falciparum Dd2 expression library screened with human immune sera, yielding a 1,336 bp insert with a 936 bp ORF encoding a 317-aa protein.
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Has reproduction · 98
The butyrophilin 1a1 knockout mouse revisited: Ablation of Btn1a1 leads to concurrent cell death and renewal in the mammary epithelium during lactation.
PMID 34938960 · PMC8664049 · FASEB bioAdvances · 2021 · 8 claims · 8 setups
BTN1A1 functions as an apical membrane receptor that forms a lipid-droplet secretion complex with the redox enzyme xanthine oxidoreductase (XDH)
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Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.
PMID 11850598 · PMC3054831 · Journal of Korean medical science · 2002 · 7 claims · 5 setups
MELAS muscle shows strongly SDH-positive blood vessels (SSVs) and many COX-positive ragged-red fibers, while MERRF muscle shows neither SSVs nor COX-positive RRFs, giving distinct histochemical staining patterns between the two diseases.
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Genetic requirement for pneumococcal ear infection.
PMID 18670623 · PMC2593789 · PloS one · 2007 · 7 claims · 8 setups
STM screening of 5,280 S. pneumoniae ST556 mutants in a chinchilla middle ear infection model identified 169 genes required for ear infection
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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups
A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).
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A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
PMID 18989381 · PMC2579934 · Molecular vision · 2008 · 8 claims · 5 setups
Two-point linkage analysis maps this Chinese adPEO family to the PEO1 (Twinkle) locus on chromosome 10q23.3-24.3, with the other three candidate genes excluded.
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Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.
PMID 9547338 · PMC2212220 · The Journal of experimental medicine · 1998 · 6 claims · 6 setups
The most severe (Herlitz) form of JEB correlates best with mutations causing premature termination codons (PTCs), not with mutation location in a particular protein domain
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Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.
PMID 18948002 · PMC2592511 · Neuromuscular disorders : NMD · 2008 · 7 claims · 7 setups
The patient carries a homozygous Trp25X (TGG→TGA) mutation in TCAP causing premature termination of translation/transcription and complete telethonin deficiency.
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Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
PMID 18626973 · PMC2570015 · Annals of neurology · 2008 · 8 claims · 8 setups
Clinical features of Dok-7 myasthenia are highly variable, ranging from mild static limb-girdle weakness to severe generalized progressive disease
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Has reproduction · 46
Cancer cells copy migratory behavior and exchange signaling networks via extracellular vesicles.
PMID 29907695 · PMC6068466 · The EMBO journal · 2018 · 8 claims · 8 setups
B16F1 and B16F10 melanoma subclones functionally exchange EVs in vivo, transferring Cre mRNA cargo detectable via a Cre-LoxP color-switch reporter system
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A colorimetric method for point mutation detection using high-fidelity DNA ligase.
PMID 16257979 · PMC1275593 · Nucleic acids research · 2005 · 8 claims · 8 setups
High-fidelity Tth DNA ligase combined with allele-specific ligation-based gold nanoparticle assembly enables colorimetric single-base discrimination without precise temperature control