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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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups
GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss
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Mutational analysis of the preferential binding of human topoisomerase I to supercoiled DNA.
PMID 19740104 · PMC3107988 · The FEBS journal · 2009 · 8 claims · 4 setups
Human topoisomerase I (topo70) does not dimerize either free in solution or when covalently bound to DNA, ruling out dimerization as the source of a second DNA binding site
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Methods for proteomic analysis of transcription factors.
PMID 19726046 · PMC2778203 · Journal of chromatography. A · 2009 · 8 claims · 8 setups
Systematic oligonucleotide 'trapping' at nM DNA concentrations allows purification of TF-RE complexes in a highly purified state, exploiting the high specific affinity vs. low non-specific affinity of TFs for DNA
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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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Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor.
PMID 19657311 · PMC2767399 · Pancreas · 2009 · 8 claims · 6 setups
A homozygous P86S mutation in GCGR is associated with hyperglucagonemia and α cell hyperplasia in the patient
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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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The complete genome sequence of Vibrio cholerae: a tale of two chromosomes and of two lifestyles.
PMID 11178241 · PMC138858 · Genome biology · 2000 · 8 claims · 4 setups
The V. cholerae O1 (El Tor) genome consists of two chromosomes with asymmetrically distributed gene functions
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Has reproduction · 90
Cohesion is established during DNA replication utilising chromosome associated cohesin rings as well as those loaded de novo onto nascent DNAs.
PMID 32515737 · PMC7282809 · eLife · 2020 · 8 claims · 3 setups
Both cohesin conversion and Scc2-dependent de novo loading mechanisms generate cohesion in S. cerevisiae, each requiring a distinct set of replisome-associated proteins.
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Has reproduction · 75
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups
Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes
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Has reproduction · 78
Spns1-dependent endocardial lysosomal function drives valve morphogenesis through Notch1-signaling.
PMID 39720516 · PMC11667069 · iScience · 2024 · 7 claims · 8 setups
Autophagosomal, autolysosomal, and lysosomal vesicles significantly accumulate in the atrioventricular canal (AVC) and outflow tract (OFT)/bulboventricular regions and their developing valves during zebrafish heart development.
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Synaptic dysfunction and oxidative stress in Alzheimer's disease: emerging mechanisms.
PMID 16989739 · PMC3933161 · Journal of cellular and molecular medicine · 2006 · 6 claims · 8 setups
Mutations in APP, PS1 and PS2 genes and polymorphisms in the APOE gene are implicated in AD pathogenesis
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Has reproduction · 87
Differentiating Drosophila female germ cells initiate Polycomb silencing by regulating PRC2-interacting proteins.
PMID 32773039 · PMC7438113 · eLife · 2020 · 8 claims · 2 setups
Germline stem cells (GSCs) have a non-canonical PRC2 distribution and lack silenced chromatin, resembling early embryonic progenitors
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A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.
PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups
The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls
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Gene function in the mammalian genome, courtesy of the mouse.
PMID 12537544 · PMC151280 · Genome biology · 2003 · 8 claims · 8 setups
Mosaicism of Mus musculus domesticus and Mus musculus musculus haplotypes exists across the inbred laboratory mouse genome, and genome-wide haplotype mapping can enhance positional cloning
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From single cells to whole organisms.
PMID 16420683 · PMC1414103 · Genome biology · 2005 · 8 claims · 8 setups
The genetic-interaction map in S. cerevisiae is roughly four times as complex as the protein-protein interaction map, and genetic interactions do not overlap with physical interactions but instead predict functional neighborhoods
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Improvements to cardiovascular gene ontology.
PMID 19046747 · PMC2706316 · Atherosclerosis · 2009 · 8 claims · 8 setups
Gene Ontology (GO) provides a controlled vocabulary that links current functional knowledge of genes to high-throughput genomic and proteomic datasets, aiding data interpretation.
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The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information.
PMID 15642099 · PMC549068 · Genome biology · 2005 · 7 claims · 1 setups
The MP Ontology enables robust, standardized annotation of mammalian phenotypes for mutations, QTLs, and strains used as models of human biology and disease.
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Addressing the age-old question of old age.
PMID 15287970 · PMC507873 · Genome biology · 2004 · 8 claims · 6 setups
Dietary restriction and reduced temperature extend Drosophila lifespan via intrinsically different demographic mechanisms: dietary restriction lowers intrinsic frailty, while lower temperature reduces the rate of senescence.
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EGenBio: a data management system for evolutionary genomics and biodiversity.
PMID 17118150 · PMC1683573 · BMC bioinformatics · 2006 · 7 claims · 7 setups
EGenBio is a web-based system for integrated management, filtering, curation, and visualization of large-scale genomic sequences, alignments, and phylogenetic trees for evolutionary genomics and biodiversity research.