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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A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.
PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups
A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.
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Leber's hereditary optic neuropathy--case report and literature review.
PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups
Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON
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Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system.
PMID 16948859 · PMC1569827 · BMC biotechnology · 2006 · 7 claims · 7 setups
pREAL, fusing cya fragments T25 and T18 around a cloning site, produces catalytically active adenylate cyclase only when the inserted human DNA lacks a PSC
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Assisted large fragment insertion by Red/ET-recombination (ALFIRE)--an alternative and enhanced method for large fragment recombineering.
PMID 17517785 · PMC1904275 · Nucleic acids research · 2007 · 6 claims · 7 setups
ALFIRE allows insertion of any fragment into small or large episomes without requiring an antibiotic selection gene in the final construct
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Has reproduction · 78
Purinergic adipocyte-macrophage crosstalk promotes degeneration of thermogenic brown adipose tissue.
PMID 41261284 · PMC12715258 · EMBO reports · 2025 · 8 claims · 8 setups
Imbalanced sympathetic/thermogenic activation (via UCP1 deficiency or pharmacological futile thermogenesis) causes BAT inflammation, fibrosis and degeneration
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.
PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups
A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent
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Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.
PMID 20022607 · PMC3891822 · Journal of the neurological sciences · 2010 · 8 claims · 7 setups
The heteroplasmic m.12276G>A mtDNA tRNA Leu(CUN) mutation causes a childhood-onset, slowly progressive encephalopathy with ataxia, cognitive impairment, dyspraxia, and sensorineural hearing loss
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Synaptic proteins linked to HIV-1 infection and immunoproteasome induction: proteomic analysis of human synaptosomes.
PMID 19693676 · PMC2824116 · Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2010 · 8 claims · 7 setups
Proteomic screening of human synaptosomes identifies a set of proteins differentially expressed in HIV/AIDS brain
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Characterization, expression profiles, intracellular distribution and association analysis of porcine PNAS-4 gene with production traits.
PMID 18588709 · PMC2464599 · BMC genetics · 2008 · 8 claims · 7 setups
Porcine PNAS-4 encodes a 194-amino-acid protein that localizes to the Golgi complex
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Multilocus sequence typing of Cronobacter sakazakii and Cronobacter malonaticus reveals stable clonal structures with clinical significance which do not correlate with biotypes.
PMID 19852808 · PMC2770063 · BMC microbiology · 2009 · 8 claims · 6 setups
A seven-locus MLST scheme (atpD, fusA, glnS, gltB, gyrB, infB, pps) reliably identifies and discriminates C. sakazakii and C. malonaticus strains
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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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Has reproduction · 45
NUSAP1 Could be a Potential Target for Preventing NAFLD Progression to Liver Cancer.
PMID 35431924 · PMC9010788 · Frontiers in pharmacology · 2022 · 8 claims · 8 setups
NUSAP1 is a hub gene linking NAFLD fibrosis progression and HCC and may be a therapeutic target to prevent NAFLD progression to liver cancer
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A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms.
PMID 15592405 · PMC2263125 · Nature · 2004 · 8 claims · 8 setups
A genetic variation map of 2.8 million SNPs was constructed for chicken by comparing 3 domestic breeds to Red Jungle Fowl
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p53 as a potential predictive factor of response to chemotherapy: feasibility of p53 assessment using a functional test in yeast from trucut biopsies in breast cancer patients.
PMID 11875738 · PMC2375302 · British journal of cancer · 2002 · 8 claims · 6 setups
p53 status can be reliably determined by yeast functional assay from single frozen sections of trucut biopsies
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A well-conserved Plasmodium falciparum var gene shows an unusual stage-specific transcript pattern.
PMID 12787360 · PMC2869446 · Molecular microbiology · 2003 · 8 claims · 8 setups
Full-length var transcripts (detected by the complex var exon 2 probe) are present only in ring stages, not in pigmented trophozoites, across multiple parasite lines
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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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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 · 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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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups
Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C
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PALB2 variants in hereditary and unselected Finnish prostate cancer cases.
PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups
None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland