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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Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
PMID 16934001 · PMC1550284 · PLoS genetics · 2006 · 7 claims · 6 setups
The E320Q, Q463H, and L706S STAT1 alleles are intrinsically deleterious for both IFNG/GAF-mediated and IFNA/ISGF3-mediated immunity when tested in STAT1-deficient transfected cells
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Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.
PMID 41653922 · PMC13034722 · Molecular cell · 2026 · 8 claims · 8 setups
Heterozygous de novo missense mutations in RING1 and RNF2 are found in individuals with neurodevelopmental/intellectual disability phenotypes
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Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups
GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.
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Evolution of variants of yeast site-specific recombinase Flp that utilize native genomic sequences as recombination target sites.
PMID 17003057 · PMC1635253 · Nucleic acids research · 2006 · 8 claims · 8 setups
Stepwise directed evolution using chimeric FLRT (FRT/genomic hybrid) intermediate sites can generate Flp variants capable of recombining native genomic FRT-like sequences from the human IL10 gene (FL-IL10A, FL-IL10B).
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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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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.
PMID 19668202 · PMC3661775 · Nature methods · 2009 · 8 claims · 8 setups
BreakDancer (BreakDancerMax + BreakDancerMini) is a software package that predicts a wide variety of structural variants including deletions, insertions, inversions, and intra/inter-chromosomal translocations from paired-end short-insert sequencing reads.
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Structural organization and interactions of transmembrane domains in tetraspanin proteins.
PMID 15985154 · PMC1190194 · BMC structural biology · 2005 · 8 claims · 5 setups
TM1, TM2 and TM3 of human tetraspanins display a distinct heptad repeat motif (abcdefg)n, while TM4 lacks this motif.
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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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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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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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Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.
PMID 41746734 · PMC13043084 · JCI insight · 2026 · 8 claims · 8 setups
The dG-MYRF C-terminal frameshift variant undergoes normal homotrimerization, cleavage, and nuclear localization but shows reduced steady-state levels of the C-terminal cleavage product and decreased transcriptional activation of target genes.
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Has reproduction · 96
A bioinformatic pipeline for simulating viral integration data.
PMID 35496474 · PMC9046613 · Data in brief · 2022 · 7 claims · 3 setups
A snakemake-based pipeline was developed to simulate integration of a viral or vector genome into a host genome, including sub-genomic fragment integration, structural variation, and host-site deletions.
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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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Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups
Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy
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A search for structurally similar cellular internal ribosome entry sites.
PMID 17591613 · PMC1950536 · Nucleic acids research · 2007 · 8 claims · 7 setups
Cellular IRES are not defined by an overall conserved structure (unlike viral IRES) but instead depend on short RNA motifs and shared trans-acting factors (ITAFs)
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SVNeoPP: A Workflow for Structural-Variant-Derived Neoantigen Prediction and Prioritization Using Multi-Omics Data.
PMID 41892252 · PMC13024079 · Biology · 2026 · 8 claims · 7 setups
SVNeoPP is an end-to-end Snakemake workflow that takes WGS and RNA-seq as input to call/annotate SVs, reconstruct altered transcripts and coding sequences in an isoform-aware, traceable manner, and generate candidate peptides.
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Has reproduction · 81
Identification of Proteins Deregulated by Platinum-Based Chemotherapy as Novel Biomarkers and Therapeutic Targets in Non-Small Cell Lung Cancer.
PMID 33777753 · PMC7991912 · Frontiers in oncology · 2021 · 7 claims · 8 setups
Cisplatin exposure induces significant deregulation of protein expression networks in NSCLC cells
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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
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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups
Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy
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targetTB: a target identification pipeline for Mycobacterium tuberculosis through an interactome, reactome and genome-scale structural analysis.
PMID 19099550 · PMC2651862 · BMC systems biology · 2008 · 8 claims · 8 setups
A comprehensive in silico target identification pipeline (targetTB) integrating interactome, reactome, essentiality, sequence and structural analyses can identify high-confidence drug targets for Mtb