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).

• Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

  PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups

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  POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)

  blood parental model sanger parental microsatellite

• Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

  PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups

  Has reproduction · 84

  Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1

  blood-derived four patients col2a1 targeted clinical transthoracic

• 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

  Has reproduction · 88

  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).

  cos-7 parental hras genomic ras immunoblotting egf

• Investigating the genetic association between ERAP1 and ankylosing spondylitis.

  PMID 19692350 · PMC2758148 · Human molecular genetics · 2009 · 8 claims · 8 setups

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  The genetic association between ERAP1 and AS is confirmed in an independent replication cohort

  patients cases genotype comparison snp meta-analysis resequencing

• 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

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  MET mutations identified in lung tumors are predominantly germline rather than somatic

  tumor established recombinant cos-7 pcr elisa-based apoptosis

• 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

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  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

  homology-model-derived molecular

• Personalized genomic medicine with a patchwork, partially owned genome.

  PMID 18449389 · PMC2347364 · The Yale journal of biology and medicine · 2007 · 8 claims · 6 setups

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  Structural variants (CNVs) cover as much as 20 percent of the human genome length and are present in phenotypically normal individuals without apparent negative consequences.

  phenotypically single genome chimpanzee molecular diploid encode

• 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

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  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

  ceacam1 meningitidis influenzae ha3 homology site-directed receptor

• The RCSB PDB information portal for structural genomics.

  PMID 16381872 · PMC1347482 · Nucleic acids research · 2006 · 7 claims · 5 setups

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  The RCSB PDB Structural Genomics Information Portal integrates three resources: Structural Genomics Initiatives, Targets (TargetDB/PepcDB), and Structures (functional coverage analysis).

  structural nih genome sequence target production

• A comprehensive modular map of molecular interactions in RB/E2F pathway.

  PMID 18319725 · PMC2290939 · Molecular systems biology · 2008 · 8 claims · 4 setups

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  A comprehensive, curated map of RB/E2F pathway molecular interactions was built using SBGN notation in CellDesigner and converted to BioPAX 2.0 format

  bladder computational curated literature transcriptome gene network

• BioDrugScreen: a computational drug design resource for ranking molecules docked to the human proteome.

  PMID 19923229 · PMC2808957 · Nucleic acids research · 2010 · 6 claims · 5 setups

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  BioDrugScreen is a web resource providing pre-docked and pre-scored receptor-ligand complexes for ranking molecules against human proteome targets

  docked targets molecular binding continuum

• Structural genomics and drug discovery for infectious diseases.

  PMID 19860716 · PMC2789569 · Infectious disorders drug targets · 2009 · 7 claims · 4 setups

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  CSGID applies high-throughput X-ray crystallography structural genomics to NIAID category A-C pathogen proteins to enable structure-aided drug discovery, with a goal of 400 protein/protein-ligand structures

  selenomethionine-substituted recombinant genes x-ray high-throughput purification

• Identification, characterization and comparative genomics of chimpanzee endogenous retroviruses.

  PMID 16805923 · PMC1779541 · Genome biology · 2006 · 8 claims · 6 setups

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  The chimpanzee genome contains at least 42 separate families of endogenous retroviruses, 9 newly identified

  chimpanzee domains genomic hg16 genome-wide sequence ltr-ltr

• 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

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  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

  abl egfr abl-sh2-sh3 homology molecular stability

• Structural evolution of the protein kinase-like superfamily.

  PMID 16244704 · PMC1261164 · PLoS computational biology · 2005 · 8 claims · 5 setups

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  All kinases in the superfamily share a 'universal core' domain consisting only of the regions required for ATP binding and the phosphotransfer reaction.

  bank representative same kinase comparative manual structure-annotated

• Structural genomics: a new era for pharmaceutical research.

  PMID 11864367 · PMC139010 · Genome biology · 2002 · 8 claims · 6 setups

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  Automation of crystal mounting, diffraction data collection, and structure determination/refinement is a critical factor enabling large-scale structural genomics projects.

  proteins target hiv x-ray thermal initio

• Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.

  PMID 41729082 · PMC12956005 · JCI insight · 2026 · 8 claims · 8 setups

  Has reproduction · 89

  TLR8 A518T is a gain-of-function variant that enhances NF-κB activation and increases secretion of proinflammatory cytokines upon stimulation compared with WT TLR8

  plasma pbmcs expressing tlr8 targeted plasma quantitative

• 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

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  The C-terminal domain of the gE ectodomain (CgE) is the minimal Fc-binding domain of gE-gI

  recombinant selenomethionine-substituted ge-gi models surface x-ray computational

• GLIDA: GPCR--ligand database for chemical genomics drug discovery--database and tools update.

  PMID 17986454 · PMC2238933 · Nucleic acids research · 2008 · 7 claims · 5 setups

  Full-text index only

  GLIDA is a public relational database integrating biological information on GPCRs with chemical information on their ligands and their binding interactions.

  ligand gpcr glida principal sequence gene

• 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

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  The native 22-nt c-kit87 sequence occurs only once in the entire human genome.

  genome synthetic c-kit87 c-kit genome-wide circular molecular