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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Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining.
PMID 19653712 · PMC2810483 · Archives of pathology & laboratory medicine · 2009 · 6 claims · 7 setups
Anterior diffuse retinoblastoma, traditionally considered sporadic/nonheritable, can arise from a germline RB1 mutation and thus may be heritable
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Has reproduction · 47
Comprehensive analysis of metastatic gastric cancer tumour cells using single-cell RNA-seq.
PMID 33441952 · PMC7806779 · Scientific reports · 2021 · 8 claims · 5 setups
CDK12, ERBB2, and CLDN11 are overexpressed in metastatic lymph node gastric cancer and serve as candidate lymph node metastasis marker genes.
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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups
c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one
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Boosting accuracy of automated classification of fluorescence microscope images for location proteomics.
PMID 15207009 · PMC449699 · BMC bioinformatics · 2004 · 8 claims · 8 setups
New classifiers (SVMs, ensembles) and new wavelet-derived (Gabor, Daubechies) features improve recognition of protein subcellular location patterns over the previous neural network approach
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A combined approach exploring gene function based on worm-human orthology.
PMID 15877817 · PMC1112593 · BMC genomics · 2005 · 8 claims · 6 setups
Strict phylogenetic criteria (concordant Neighbor Joining and Maximum Parsimony tree topology) can select single most-likely human orthologs for C. elegans genes despite the large phylogenetic distance between worm and human sequences.
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A new family of giardial cysteine-rich non-VSP protein genes and a novel cyst protein.
PMID 17183673 · PMC1762436 · PloS one · 2006 · 8 claims · 7 setups
HCNCp is a novel invariant (non-variant) cyst protein belonging to a new family of high-cysteine membrane proteins (HCMp) abundant in the Giardia genome
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Locus-specific and activity-independent gene repositioning during early tumorigenesis.
PMID 18195100 · PMC2213600 · The Journal of cell biology · 2008 · 7 claims · 6 setups
The genome undergoes global spatial reorganization during both normal and tumorigenic mammary epithelial differentiation, as shown by reduced nucleolar number.
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Novel mutations in GJA1 cause oculodentodigital syndrome.
PMID 18946008 · PMC2588666 · Journal of dental research · 2008 · 8 claims · 3 setups
Heterozygous missense mutations in GJA1 were found in all analyzed ODD-affected individuals across ten unrelated families
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Has reproduction · 87
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups
Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals
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Has reproduction · 55
Single cell analysis reveals the roles and regulatory mechanisms of type-I interferons in Parkinson's disease.
PMID 38566100 · PMC10985960 · Cell communication and signaling : CCS · 2024 · 8 claims · 8 setups
Microglia, endothelial cells, and pericytes exhibit the highest type I interferon (IFN-I) activity among PD midbrain cell types, with microglia showing markedly higher activity in PD.
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Has reproduction · 75
Integrative analysis reveals chemokines CCL2 and CXCL5 mediated shear stress-induced aortic dissection formation.
PMID 38163105 · PMC10757018 · Heliyon · 2024 · 7 claims · 8 setups
Chemokines CCL2 and CXCL5 mediate a shear stress-induced 'Endothelial-Monocyte-Neutrophil' axis that contributes to aortic dissection development.
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Human Lsg1 defines a family of essential GTPases that correlates with the evolution of compartmentalization.
PMID 16209721 · PMC1262696 · BMC biology · 2005 · 8 claims · 9 setups
hLsg1 is the human orthologue of yeast Lsg1p and defines a family of circularly permuted GTPases named YRG (YlqF Related GTPases)
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Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.
PMID 18948002 · PMC2592511 · Neuromuscular disorders : NMD · 2008 · 7 claims · 7 setups
The patient carries a homozygous Trp25X (TGG→TGA) mutation in TCAP causing premature termination of translation/transcription and complete telethonin deficiency.
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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients
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Structural and functional divergence of two fish aquaporin-1 water channels following teleost-specific gene duplication.
PMID 18811940 · PMC2564943 · BMC evolutionary biology · 2008 · 8 claims · 8 setups
Teleosts, unlike tetrapods, possess two closely linked paralogous AQP1 genes, aqp1a and aqp1b (formerly AQP1o), arising from a teleost-specific duplication of an ancestral AQP1 gene
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Genome-wide analysis of the H3K4 histone demethylase RBP2 reveals a transcriptional program controlling differentiation.
PMID 18722178 · PMC3003864 · Molecular cell · 2008 · 7 claims · 8 setups
RBP2 target promoters separate into two functionally distinct classes: differentiation-independent genes (mitochondrial function, RNA/DNA metabolism) and differentiation-dependent genes (cell cycle)
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Forward genetic analysis of the apicomplexan cell division cycle in Toxoplasma gondii.
PMID 18282098 · PMC2242837 · PLoS pathogens · 2008 · 8 claims · 6 setups
A high-throughput ENU mutagenesis screen isolated 165 temperature-sensitive (ts) Toxoplasma growth mutants from ~60,000 clones.
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A quantitative proteomics analysis of subcellular proteome localization and changes induced by DNA damage.
PMID 20026476 · PMC2849709 · Molecular & cellular proteomics : MCP · 2010 · 6 claims · 5 setups
A SILAC-based 'spatial proteomics' method can quantitatively measure the relative subcellular distribution of thousands of proteins across cytoplasm, nucleus, and nucleolus.
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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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A genome-wide siRNA screen reveals diverse cellular processes and pathways that mediate genome stability.
PMID 19647519 · PMC2772893 · Molecular cell · 2009 · 8 claims · 6 setups
A genome-wide siRNA screen in HeLa cells using γH2AX as a readout identifies genes whose knockdown elevates DNA damage/genome instability