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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Mutations in PIK3CA are infrequent in neuroblastoma.
PMID 16822308 · PMC1533846 · BMC cancer · 2006 · 8 claims · 6 setups
PIK3CA activating mutations are infrequent in human neuroblastoma (2.9%, 2/69 tumors)
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Comparative genomics search for losses of long-established genes on the human lineage.
PMID 18085818 · PMC2134963 · PLoS computational biology · 2007 · 8 claims · 6 setups
A novel comparative genomics method (TransMap-based syntenic mapping of gene structures between human, mouse, and dog) can detect losses of well-established single-copy genes without relying on sequence homology to a parental gene, distinguishing them from typical duplication- or retrotransposition-derived pseudogenes.
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Mitochondrial diversity within modern human populations.
PMID 17439969 · PMC1888801 · Nucleic acids research · 2007 · 8 claims · 5 setups
Modern humans show extremely low divergence from the mitochondrial consensus sequence, differing on average by only 21.6 nucleotide sites
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Genetic microheterogeneity and phenotypic variation of Helicobacter pylori arginase in clinical isolates.
PMID 17408487 · PMC1853099 · BMC microbiology · 2007 · 8 claims · 8 setups
Arginase activity varies more than 100-fold among H. pylori clinical isolates and laboratory-adapted strains
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Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups
CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID
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A genetically hard-wired metabolic transcriptome in Plasmodium falciparum fails to mount protective responses to lethal antifolates.
PMID 19023412 · PMC2581438 · PLoS pathogens · 2008 · 7 claims · 5 setups
WR99210 treatment does not overproduce protective levels of DHFR-TS RNA, the gene's principal target
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Profiling human androgen receptor mutations reveals treatment effects in a mouse model of prostate cancer.
PMID 19010817 · PMC2748651 · Molecular cancer research : MCR · 2008 · 8 claims · 8 setups
Somatic AR mutations in h/mAR-TRAMP tumors are non-random and their genomic location correlates with treatment type (castration/antiandrogen vs intact).
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Performance of mitochondrial DNA mutations detecting early stage cancer.
PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups
The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.
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Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.
PMID 18820594 · PMC2905378 · Pharmacogenetics and genomics · 2008 · 7 claims · 8 setups
The tRNA-Thr G15927A mutation has a potential modifier role that increases penetrance and expressivity of A1555G-associated deafness.
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Extensive chromatin fragmentation improves enrichment of protein binding sites in chromatin immunoprecipitation experiments.
PMID 18765474 · PMC2577354 · Nucleic acids research · 2008 · 6 claims · 6 setups
Extensive sonication reduces crosslinked chromatin to an average fragment size of ~200 bp (range 75–300 bp) and fragmentation is largely random with respect to genomic region and nucleosome position.
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Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.
PMID 18431453 · PMC2324116 · Molecular vision · 2008 · 7 claims · 5 setups
Five novel FRMD7 mutations were identified in five of seven Chinese families with X-linked infantile nystagmus.
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Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups
Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair
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NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins.
PMID 15608248 · PMC539979 · Nucleic acids research · 2005 · 7 claims · 5 setups
RefSeq provides a curated, non-redundant, explicitly linked collection of genomic, transcript and protein sequences spanning prokaryotes, eukaryotes and viruses.
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GenBank.
PMID 18940867 · PMC2686462 · Nucleic acids research · 2009 · 8 claims · 4 setups
GenBank is a comprehensive public database of nucleotide sequences with bibliographic and biological annotation, growing exponentially with a current doubling time of ~30 months.
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Widespread ectopic expression of olfactory receptor genes.
PMID 16716209 · PMC1508154 · BMC genomics · 2006 · 8 claims · 6 setups
OR genes show widespread, locus-dependent, heterogeneous ectopic expression across dozens of non-olfactory human and mouse tissues