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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Hierarchical modeling of activation mechanisms in the ABL and EGFR kinase domains: thermodynamic and mechanistic catalysts of kinase activation by cancer mutations.
PMID 19714203 · PMC2722018 · PLoS computational biology · 2009 · 8 claims · 8 setups
Cancer mutations in ABL and EGFR activate kinases via a common multi-stage mechanism involving hydrophobic spine assembly, formation of a Src-like intermediate structure, and cooperative breakage/formation of characteristic salt bridges
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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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Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations.
PMID 19744331 · PMC2749040 · BMC structural biology · 2009 · 8 claims · 1 setups
The simulation-derived JH1/JH2 interface provides a platform that explains the mutational effect of all tested mutants, including presumably benign controls, at the atomic level
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Mutations in NYX of individuals with high myopia, but without night blindness.
PMID 17392683 · PMC2642916 · Molecular vision · 2007 · 7 claims · 5 setups
Two novel NYX missense mutations (Cys48Trp and Arg191Gln) were found in unrelated males with high myopia but no night blindness.
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Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.
PMID 18836301 · PMC3196984 · Channels (Austin, Tex.) · 2008 · 8 claims · 4 setups
I781T in CaV1.2 shifts the voltage-dependence of activation and inactivation to hyperpolarized voltages, reproducing the channelopathy-like gating phenotype of CaV1.4 I745T
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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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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups
Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)
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Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms.
PMID 15784611 · PMC1069129 · Nucleic acids research · 2005 · 7 claims · 8 setups
Position-specific phylogenetic features describing evolutionary conservation at a site (e.g. SIFT score, normalized site entropy, residue frequency change) are the best individual discriminators of disease-causing versus neutral GPCR mutations.
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Mutational analysis of human CEACAM1: the potential of receptor polymorphism in increasing host susceptibility to bacterial infection.
PMID 16953805 · PMC1859983 · Cellular microbiology · 2007 · 7 claims · 8 setups
Ile-91 is the primary docking residue required for binding of all tested Nm and Hi strains to CEACAM1, despite structural diversity of bacterial ligands
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Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups
PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).
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Genetic characterization of 2006-2008 isolates of Chikungunya virus from Kerala, South India, by whole genome sequence analysis.
PMID 19851853 · PMC7088544 · Virus genes · 2010 · 8 claims · 7 setups
37 novel mutations were identified across the six sequenced CHIKV genomes, predominantly in 2007 and 2008 isolates
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Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.
PMID 18772397 · PMC2848990 · Science (New York, N.Y.) · 2008 · 8 claims · 6 setups
Pancreatic cancers contain an average of 63 genetic alterations, the majority of which are point mutations
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Large genomic rearrangements in the CFTR gene contribute to CBAVD.
PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups
Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening
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Human synthetic lethal inference as potential anti-cancer target gene detection.
PMID 20015360 · PMC2804737 · BMC systems biology · 2009 · 7 claims · 8 setups
Targeting the synthetic lethal partner of a gene mutated in cancer selectively damages tumor cells while sparing healthy cells, offering a rationale for anti-cancer drug design
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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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Predicting positive p53 cancer rescue regions using Most Informative Positive (MIP) active learning.
PMID 19756158 · PMC2742196 · PLoS computational biology · 2009 · 8 claims · 4 setups
MIP active learning is a novel active learning method that preferentially seeks informative Positive (functionally active) examples rather than only maximizing classifier accuracy.
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Molecular archeology of L1 insertions in the human genome.
PMID 12372140 · PMC134481 · Genome biology · 2002 · 8 claims · 4 setups
TSDfinder, a new algorithm, refines RepeatMasker-identified L1 boundaries by locating poly(A) tails, TSDs, and inversion breakpoints
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Crystal structure of the HSV-1 Fc receptor bound to Fc reveals a mechanism for antibody bipolar bridging.
PMID 16646632 · PMC1450327 · PLoS biology · 2006 · 8 claims · 5 setups
The C-terminal domain of the gE ectodomain (CgE) is the minimal Fc-binding domain of gE-gI
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Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene.
PMID 15757516 · PMC555945 · BMC genomics · 2005 · 8 claims · 8 setups
Mouse has a transcribed, 7-exon L-threonine aldolase (GLY1) gene on chromosome 11 encoding a 400-residue protein homologous to bacterial threonine aldolase
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Genome microevolution of chikungunya viruses causing the Indian Ocean outbreak.
PMID 16700631 · PMC1463904 · PLoS medicine · 2006 · 8 claims · 6 setups
The Indian Ocean outbreak was initiated by a strain related to East African CHIKV isolates, which subsequently evolved via a traceable microevolution history