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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Genome bioinformatic analysis of nonsynonymous SNPs.
PMID 17708757 · PMC1978506 · BMC bioinformatics · 2007 · 8 claims · 8 setups
Structure- and sequence-based prediction tools can generally distinguish disease-causing mutations from neutral ones
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Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.
PMID 17557180 · PMC1998882 · Mammalian genome : official journal of the International Mammalian Genome Society · 2007 · 7 claims · 7 setups
A BAC transgene containing Prop1 completely rescues the Prop1 mutant (dwarf) phenotype, showing all necessary regulatory elements lie within the BAC
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Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
PMID 17515881 · PMC2669507 · Molecular vision · 2007 · 8 claims · 6 setups
Five RS1 mutations (c.574C>T, c.583A>G, c.608C>T, c.617G>A, c.637C>T) were identified in exon 6 of six unrelated Indian XLRS patients
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Expansion of the Bactericidal/Permeability Increasing-like (BPI-like) protein locus in cattle.
PMID 17362520 · PMC1839098 · BMC genomics · 2007 · 8 claims · 8 setups
The bovine BPI-like locus spans 470 kbp and contains 14 contiguous genes (13 intact + 1 pseudogene); 9 are orthologous to human/mouse BPI-like genes and 4 (named BSP30A, BSP30B, BSP30C, BSP30D) arose through cattle-specific duplication of the PSP gene
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Functional analysis of novel SNPs and mutations in human and mouse genomes.
PMID 19091009 · PMC2638150 · BMC bioinformatics · 2008 · 8 claims · 7 setups
FANS streamlines functional analysis of novel SNPs and mutations into a simplified, few-click, four-step procedure.
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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups
Mutations in USH2A are responsible for most cases of USH2
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Disruption of the EGFR E884-R958 ion pair conserved in the human kinome differentially alters signaling and inhibitor sensitivity.
PMID 19015641 · PMC2633425 · Oncogene · 2009 · 8 claims · 8 setups
E884K works in concert with L858R in-cis, in a dominant fashion, to differentially alter EGFR downstream signaling and inhibitor sensitivity in an inhibitor-specific manner
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Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.
PMID 18997096 · PMC4836613 · Investigative ophthalmology & visual science · 2009 · 7 claims · 8 setups
High T8993C mutant load (>77%) is associated with severe neurologic and/or retinal abnormalities, while low mutant load (42-54%) causes no detectable abnormalities.
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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
PMID 18992264 · PMC2682550 · Mutation research · 2009 · 8 claims · 8 setups
A combined functional assay, bioinformatics prediction, and structural modeling approach can classify BRCA1 variants of uncertain significance
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Evolutionary genomics reveals lineage-specific gene loss and rapid evolution of a sperm-specific ion channel complex: CatSpers and CatSperbeta.
PMID 18974790 · PMC2572835 · PloS one · 2008 · 8 claims · 6 setups
The CatSper channel complex (four CatSpers plus CatSperβ) originated as early as primitive metazoans such as the Cnidarian Nematostella vectensis
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Mutation screening of HSF4 in 150 age-related cataract patients.
PMID 18941546 · PMC2569895 · Molecular vision · 2008 · 8 claims · 4 setups
Five new HSF4 sequence variants (c.1020-25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T, c.1286C>T) were found in age-related cataract patients but not in 220 controls.
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Phosphoproteomics: unraveling the signaling web.
PMID 18922462 · PMC2754874 · Molecular cell · 2008 · 8 claims · 8 setups
Integrating discovery-based MS phosphoproteomics with targeted protein microarray technologies yields a more complete picture of signaling networks and improves clinical translation of findings.
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Tubulin proteomics: towards breaking the code.
PMID 18840397 · PMC4039029 · Analytical biochemistry · 2009 · 8 claims · 8 setups
Tubulin isotype and posttranslational-modification diversity constitutes a 'tubulin code' that is read by microtubule-associated proteins and translates into specific in vivo functions
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Phagosome maturation: going through the acid test.
PMID 18813294 · PMC2908392 · Nature reviews. Molecular cell biology · 2008 · 8 claims · 8 setups
Maturation of apoptotic cell-containing phagosomes proceeds via machinery mechanistically distinct from receptor-mediated endocytosis
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Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.
PMID 18797263 · PMC4867177 · Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology · 2008 · 8 claims · 8 setups
A patient with the PS-1 G206A mutation developed prominent extrapyramidal signs (EPS) shortly after starting the atypical neuroleptic risperidone, which resolved completely after the drug was discontinued.
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The protein-phosphatome of the human malaria parasite Plasmodium falciparum.
PMID 18793411 · PMC2559854 · BMC genomics · 2008 · 8 claims · 8 setups
P. falciparum possesses 27 putative protein phosphatase sequences across the four major PP families (PPP, PPM, PTP, NIF), plus 7 additional sequences predicted to dephosphorylate non-protein substrates, totaling 34.
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Net positive charge of HIV-1 CRF01_AE V3 sequence regulates viral sensitivity to humoral immunity.
PMID 18787705 · PMC2527523 · PloS one · 2008 · 8 claims · 5 setups
Reduction in V3's net positive charge makes V3 less variable due to limited positive selection
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Identification of direct regulatory targets of the transcription factor Sox10 based on function and conservation.
PMID 18786246 · PMC2556353 · BMC genomics · 2008 · 6 claims · 6 setups
PLP, Sox10, SOD3, and Ptn are direct regulatory targets of Sox10, confirmed by chromatin immunoprecipitation binding to conserved cis-elements
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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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Random amino acid mutations and protein misfolding lead to Shannon limit in sequence-structure communication.
PMID 18769673 · PMC2518838 · PloS one · 2008 · 8 claims · 6 setups
The protein sequence-structure map behaves as a noisy digital communication channel whose capacity C exceeds the transmission rate R for native structures, satisfying Shannon's noisy channel theorem