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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Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.
PMID 16277682 · PMC1297578 · Arthritis research & therapy · 2005 · 6 claims · 4 setups
The M404V mutation in p62/SQSTM1 exon 8 segregates with the polyostotic form of PDB in the F01 Italian family
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Improved mutation tagging with gene identifiers applied to membrane protein stability prediction.
PMID 19758467 · PMC2745585 · BMC bioinformatics · 2009 · 8 claims · 4 setups
MutationTagger achieves 87% F-measure for the mutation retrieval task on a benchmark dataset
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Altered spin state equilibrium in the T309V mutant of cytochrome P450 2D6: a spectroscopic and computational study.
PMID 17318599 · PMC1915625 · Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2007 · 7 claims · 7 setups
The T309V mutation shifts the CYP2D6 heme spin equilibrium toward the six-coordinate low-spin (6cLS) state, decreasing the five-coordinate high-spin (5cHS) fraction relative to wild type.
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Sequence and structure signatures of cancer mutation hotspots in protein kinases.
PMID 19834613 · PMC2759519 · PloS one · 2009 · 8 claims · 6 setups
Developed CKMD (Composite Kinase Mutation Database), an integrated bioinformatics resource mapping genetic variation in protein kinase genes to sequence, structural, and functional data
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SNAP predicts effect of mutations on protein function.
PMID 18757876 · PMC2562009 · Bioinformatics (Oxford, England) · 2008 · 8 claims · 3 setups
SNAP is a publicly available web-server implementation predicting functional effects (neutral/non-neutral) of single amino acid substitutions.
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Prediction by graph theoretic measures of structural effects in proteins arising from non-synonymous single nucleotide polymorphisms.
PMID 18654622 · PMC2447880 · PLoS computational biology · 2008 · 8 claims · 5 setups
Bongo identifies mutations causing local and global structural effects with a remarkably low false positive rate
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Has reproduction · 88
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
PMID 22821884 · PMC4166655 · American journal of medical genetics. Part A · 2012 · 8 claims · 6 setups
A novel heterozygous HRAS c.266C>G (p.S89C) germline mutation was identified in two siblings with severe fetal hydrops/pleural effusion (Patient 1) and polyhydramnios/Dandy-Walker malformation (Patient 2).
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SuperCYP: a comprehensive database on Cytochrome P450 enzymes including a tool for analysis of CYP-drug interactions.
PMID 19934256 · PMC2808967 · Nucleic acids research · 2010 · 8 claims · 6 setups
SuperCYP is a comprehensive relational database aggregating CYP enzyme, drug metabolism, SNP/mutation, and structural information from literature and web resources.
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MACSIMS: multiple alignment of complete sequences information management system.
PMID 16792820 · PMC1539025 · BMC bioinformatics · 2006 · 8 claims · 5 setups
MACSIMS is a multiple alignment-based information management system combining knowledge-based database mining with ab initio sequence predictions
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MODBASE, a database of annotated comparative protein structure models and associated resources.
PMID 18948282 · PMC2686492 · Nucleic acids research · 2009 · 8 claims · 8 setups
MODBASE contains 5,152,695 reliable comparative protein structure models for 1,593,209 unique protein sequences.
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Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups
16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis
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Has reproduction · 98
Mutations in dnaA and a cryptic interaction site increase drug resistance in Mycobacterium tuberculosis.
PMID 33253310 · PMC7738170 · PLoS pathogens · 2020 · 7 claims · 8 setups
Non-synonymous mutations in dnaA are statistically associated with drug resistance (INH, RIF, SM) in clinical M. tuberculosis strains across two independent GWAS cohorts (China and Vietnam)
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Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods.
PMID 16522644 · PMC1390679 · Nucleic acids research · 2006 · 7 claims · 6 setups
Align-GVGD predicts loss of transactivation activity with high specificity (~88%) but lower sensitivity (67.9-71.2%) for neutral mutants
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Sequence occurrence and structural uniqueness of a G-quadruplex in the human c-kit promoter.
PMID 17720713 · PMC2034477 · Nucleic acids research · 2007 · 8 claims · 4 setups
The native 22-nt c-kit87 sequence occurs only once in the entire human genome.
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Crystallin gene mutations in Indian families with inherited pediatric cataract.
PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups
Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population
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High-throughput crystallography for structural genomics.
PMID 19765976 · PMC2764548 · Current opinion in structural biology · 2009 · 8 claims · 8 setups
SG programs use genomic sequence data to select structurally novel protein targets, avoiding proteins with known structural homologues
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Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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InSite: a computational method for identifying protein-protein interaction binding sites on a proteome-wide scale.
PMID 17868464 · PMC2375030 · Genome biology · 2007 · 8 claims · 8 setups
InSite predicts protein-pair-specific binding motifs ('Motif M on protein A binds to protein B') by integrating heterogeneous PPI and motif-motif interaction evidence within a Bayesian network trained by EM
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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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Prediction of specificity-determining residues for small-molecule kinase inhibitors.
PMID 19032760 · PMC2655090 · BMC bioinformatics · 2008 · 8 claims · 5 setups
S-Filter is a novel method combining sequence and structural information (within PFAAT) to predict specificity-determining residues and selectivity profiles for small-molecule kinase inhibitors