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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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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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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INTERFEROME: the database of interferon regulated genes.
PMID 18996892 · PMC2686605 · Nucleic acids research · 2009 · 8 claims · 6 setups
INTERFEROME is an open-access database integrating IRG expression data with annotation, orthologue sequences from 37 species, tissue expression, and gene regulatory (TFBS) information
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Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
PMID 16111488 · PMC1208866 · BMC cancer · 2005 · 8 claims · 4 setups
15 of 89 nsSNPs (16.9%) studied were predicted to abolish or create phosphorylation sites in 14 of 32 proteins (44.0%)
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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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Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas.
PMID 15083190 · PMC2410274 · British journal of cancer · 2004 · 8 claims · 2 setups
Somatic k-ras mutations occur in 9 of 54 (16.7%) MYH polyposis colorectal tumours, with frequency increasing with degree of dysplasia.
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI
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MEROPS: the peptidase database.
PMID 19892822 · PMC2808883 · Nucleic acids research · 2010 · 8 claims · 5 setups
MEROPS is a manually curated hierarchical classification of peptidases and protein inhibitors organized into protein species, families, and clans based on sequence and structural homology.
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Biocomputing enters its adolescence.
PMID 15960815 · PMC1175967 · Genome biology · 2005 · 8 claims · 8 setups
A 'match augmentation' algorithm efficiently matches structural motifs by prioritizing functionally significant residues, enabling function prediction between evolutionarily unrelated proteins
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Exhaustive prediction of disease susceptibility to coding base changes in the human genome.
PMID 18793467 · PMC2537574 · BMC bioinformatics · 2008 · 8 claims · 7 setups
Inter-species conservation is the strongest single predictor of disease-associated coding mutations among the factors tested.