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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Update on diabetes mellitus.
PMID 15502249 · PMC3839330 · Disease markers · 2004 · 8 claims · 7 setups
Type 1 diabetes results from selective destruction of pancreatic beta cells via T-cell and cytokine mediated autoimmune mechanisms, possibly involving destruction of peri-islet Schwann cells.
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From the gamma-glutamyl cycle to the glycan cycle: a road with many turns and pleasant surprises.
PMID 19840938 · PMC2787308 · The Journal of biological chemistry · 2009 · 8 claims · 8 setups
γ-Glutamyl transpeptidase (GGT) activity in rat liver shows biphasic changes during azo dye-induced hepatocarcinogenesis, mirroring the oncofetal expression pattern of α-fetoprotein
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Genetic microheterogeneity and phenotypic variation of Helicobacter pylori arginase in clinical isolates.
PMID 17408487 · PMC1853099 · BMC microbiology · 2007 · 8 claims · 8 setups
Arginase activity varies more than 100-fold among H. pylori clinical isolates and laboratory-adapted strains
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SNAP: predict effect of non-synonymous polymorphisms on function.
PMID 17526529 · PMC1920242 · Nucleic acids research · 2007 · 7 claims · 8 setups
SNAP, a neural network-based method using sequence-derived information, predicts whether a non-synonymous SNP is neutral or non-neutral for protein function
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Cancer biomarker AKR1B10 and carbonyl metabolism.
PMID 19028477 · PMC6193474 · Chemico-biological interactions · 2009 · 8 claims · 6 setups
AKR1B10 reduces the anticancer drug daunorubicin to daunorubicinol, decreasing its chemotherapeutic effectiveness
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A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
PMID 20003495 · PMC2802351 · Orphanet journal of rare diseases · 2009 · 8 claims · 7 setups
A novel FAH gene mutation, c.103G>A (Ala35Thr), causes a mild, atypical form of tyrosinemia type I
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Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
PMID 19862842 · PMC2830005 · Human mutation · 2009 · 8 claims · 6 setups
Mutations in HGD, which encodes homogentisate dioxygenase, cause AKU by blocking conversion of homogentisic acid to maleylacetoacetic acid in the tyrosine catabolic pathway
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Reconstruction of pathways associated with amino acid metabolism in human mitochondria.
PMID 18267298 · PMC5054205 · Genomics, proteomics & bioinformatics · 2007 · 8 claims · 5 setups
Out of 20 amino acids, the metabolic pathways of 17 utilize mitochondrial enzymes, and dysfunction of these enzymes causes over 40 known human mitochondrial diseases/disorders
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Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene.
PMID 11953843 · PMC2364178 · British journal of cancer · 2002 · 7 claims · 5 setups
Heterozygosity for the IVS14+1G>A DPYD splice-site mutation is associated with markedly reduced 5-FU clearance and severe 5-FU toxicity in the index patient.
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A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups
The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)
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A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
PMID 19958498 · PMC2788387 · BMC genomics · 2009 · 8 claims · 4 setups
Comparative homology modeling of wild-type and mutant α-mannosidase across human, cow, cat and guinea pig reveals a significant correlation between genotype severity and phenotype severity in α-mannosidosis
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The hemolytic and cytolytic activities of Serratia marcescens phospholipase A (PhlA) depend on lysophospholipid production by PhlA.
PMID 20003541 · PMC2800117 · BMC microbiology · 2009 · 8 claims · 8 setups
S. marcescens possesses a hemolytic factor independent of ShlA, revealed because an shlAB deletion mutant loses contact hemolysis but retains hemolysis on blood agar plates.
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The protein-phosphatome of the human malaria parasite Plasmodium falciparum.
PMID 18793411 · PMC2559854 · BMC genomics · 2008 · 8 claims · 8 setups
P. falciparum possesses 27 putative protein phosphatase sequences across the four major PP families (PPP, PPM, PTP, NIF), plus 7 additional sequences predicted to dephosphorylate non-protein substrates, totaling 34.
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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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Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.
PMID 15212689 · PMC441379 · BMC medical genetics · 2004 · 8 claims · 3 setups
Arg25Pro heterozygous genotype is significantly less frequent in CLP patients (3.3%) than in healthy controls (16.7%)
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Enhanced Bioremediation Potential of Shewanella decolorationis RNA Polymerase Mutants and Evidence for Novel Azo Dye Biodegradation Pathways.
PMID 35391736 · PMC8981235 · Frontiers in microbiology · 2022 · 8 claims · 8 setups
Unbiased RNAP (rpoB) mutation screening via rifampicin resistance is an effective method to obtain bacterial mutants with enhanced bioremediation activity
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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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Assembling a jigsaw puzzle with 20,000 parts.
PMID 12801408 · PMC193613 · Genome biology · 2003 · 8 claims · 8 setups
Re-routing the intracellular interaction domains of receptor tyrosine kinases can redirect their signaling output, e.g. converting a growth signal into an apoptosis signal.