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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MitoP2: the mitochondrial proteome database--now including mouse data.
PMID 16381964 · PMC1347489 · Nucleic acids research · 2006 · 8 claims · 8 setups
MitoP2 is a database integrating manually annotated mitochondrial reference proteins, functions, and disease associations for yeast, human, and mouse, with cross-species orthologue mapping
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Physiology engages with functional genomics - at last.
PMID 16086845 · PMC1273626 · Genome biology · 2005 · 8 claims · 8 setups
Large-scale QTL phenotyping in rat strains reveals that most hypertension-related traits are sexually dimorphic
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Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.
PMID 18174378 · PMC2605348 · Blood · 2008 · 7 claims · 8 setups
Homozygous SLC4A1 Ser667Phe mutation causes both hereditary spherocytosis and incomplete distal renal tubular acidosis in the proband
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Proteomic view of mitochondrial function.
PMID 18331620 · PMC2374722 · Genome biology · 2008 · 8 claims · 8 setups
Most modulators of basal mitochondrial function identified in the Drosophila RNAi screen are located outside the mitochondrion, since only 17 of 152 hits had a clear mitochondrial function.
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A comparison of programmed cell death between species.
PMID 11178240 · PMC138857 · Genome biology · 2000 · 8 claims · 8 setups
The core apoptotic pathway (CED-3/caspases, CED-4/Apaf-1, CED-9/Bcl-2, EGL-1) is conserved across C. elegans, Drosophila, and mammals.
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What have we learned from the congenital myasthenic syndromes.
PMID 19688192 · PMC3050586 · Journal of molecular neuroscience : MN · 2010 · 8 claims · 8 setups
CMS have been traced to mutations in at least 11 disease genes encoding proteins at the neuromuscular junction
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A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
PMID 18334966 · PMC2268715 · Molecular vision · 2008 · 7 claims · 5 setups
A novel 827C>T transition in GJA8 causes a serine-to-phenylalanine substitution (S276F) associated with dominant congenital pulverulent nuclear cataract in this Chinese family.
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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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Spontaneous mutations in hlyD and tuf genes result in resistance of Dickeya solani IPO 2222 to phage ϕD5 but cause decreased bacterial fitness and virulence in planta.
PMID 37160956 · PMC10169776 · Scientific reports · 2023 · 7 claims · 8 setups
Spontaneous ΦD5-resistant D. solani mutants DsR34 and DsR207 show significantly reduced virulence and colonization ability in planta compared to wild-type
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Has reproduction · 50
CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.
PMID 36396635 · PMC9672366 · Nature communications · 2022 · 8 claims · 7 setups
Loss of CHD7 or its chromatin remodeling (ATPase) activity causes complete absence of hair cells and supporting cells in inner ear organoids.
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Has reproduction
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups
HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition
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Has reproduction
αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor.
PMID 26177020 · PMC4503440 · PloS one · 2015 · 8 claims · 8 setups
αPIX interacts with c-Cbl, including as endogenous proteins
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Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.
PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups
A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.
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Mutations of the Igbeta gene cause agammaglobulinemia in man.
PMID 17709424 · PMC2118692 · The Journal of experimental medicine · 2007 · 6 claims · 5 setups
A homozygous nonsense mutation (Gln80X) in the Igβ (B29) gene causes agammaglobulinemia in a human patient
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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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Has reproduction · 50
Genome-wide identification of Hfq-regulated small RNAs in the fire blight pathogen Erwinia amylovora discovered small RNAs with virulence regulatory function.
PMID 24885615 · PMC4070566 · BMC genomics · 2014 · 8 claims · 8 setups
A total of 40 candidate Hfq-dependent sRNAs were identified genome-wide in E. amylovora by combining RNA-seq with a Rho-independent terminator search.
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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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Has reproduction · 82
The GATA factor ELT-3 specifies endoderm in Caenorhabditis angaria in an ancestral gene network.
PMID 36196618 · PMC9720673 · Development (Cambridge, England) · 2022 · 8 claims · 8 setups
Can-elt-3 (and orthologues in C. portoensis and C. monodelphis) is expressed in the early E lineage prior to elt-2 orthologue expression
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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups
A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family