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).

• Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

  PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups

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  The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.

  8-year-old muscle lower skeletal molecular immunostaining electromyogram

• Metagenetic and Volatilomic Approaches to Elucidate the Effect of Lactiplantibacillus plantarum Starter Cultures on Sicilian Table Olives.

  PMID 35281313 · PMC8914321 · Frontiers in microbiology · 2021 · 8 claims · 4 setups

  Has reproduction · 23

  Inoculation with L. plantarum starter cultures (O1, O2) accelerates acidification, producing a faster and more pronounced pH drop than uninoculated controls (C5, C8).

  table brine 16s volatile classical

• A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

  PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

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  A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family

  skeletal abductor genomic proband needle short muscle

• Exome sequencing identifies the cause of a mendelian disorder.

  PMID 19915526 · PMC2847889 · Nature genetics · 2010 · 8 claims · 7 setups

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  Exome sequencing of a small number of unrelated affected individuals, combined with filtering against public SNP databases and HapMap exomes, is sufficient to identify the causal gene for a monogenic disorder of unknown etiology.

  patients chromosomes dhodh utero exome directed sanger

• Expression Atlas update--a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments.

  PMID 24304889 · PMC3964963 · Nucleic acids research · 2014 · 8 claims · 6 setups

  Has reproduction · 84

  Expression Atlas is a value-added database providing gene, protein and splice variant expression across cell types, organism parts, developmental stages, diseases and other biological/experimental conditions, built from manually curated high-quality microarray and RNA-sequencing experiments from ArrayExpress.

  organisms arrayexpress-derived pride rna-sequencing single-channel two-colour

• Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

  PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups

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  BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant

  lymphocytes brca2 brca2-null ashkenazi rt-pcr splicing allelic

• Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas.

  PMID 15083190 · PMC2410274 · British journal of cancer · 2004 · 8 claims · 2 setups

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  Somatic k-ras mutations occur in 9 of 54 (16.7%) MYH polyposis colorectal tumours, with frequency increasing with degree of dysplasia.

  microdissected previously pcr literature-derived

• Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

  PMID 17511870 · PMC1888713 · BMC genetics · 2007 · 8 claims · 5 setups

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  Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A

  genomic pedigree proband pcr denaturing dhplc

• Chemical reversible crosslinking enables measurement of RNA 3D distances and alternative conformations in cells.

  PMID 35177610 · PMC8854666 · Nature communications · 2022 · 8 claims · 7 setups

  Has reproduction · 84

  SHARC uses chemical crosslinkers of defined lengths to measure distances between nucleotides in cellular RNA

  model dipicolinic hek293t 28s crosslinking nmr crosslink

• Chemical and genomic characterization of a potential probiotic treatment for stony coral tissue loss disease.

  PMID 37024599 · PMC10079959 · Communications biology · 2023 · 8 claims · 8 setups

  Has reproduction · 85

  McH1-7 has broad-spectrum antibacterial activity against SCTLD-associated bacterial isolates and other Gram-positive/Gram-negative targets

  cavernosa live mch1-7 compound plate disk nmr

• Science star over Asia.

  PMID 16149850 · PMC1201306 · PLoS biology · 2005 · 8 claims · 7 setups

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  Ariff Bongso and associates at Singapore's National University Hospital were the first to derive human embryonic stem cells, from a five-day-old discarded human embryo in 1994, and showed the cells were pluripotent with therapeutic transplant potential.

  blastocyst embryonic fugu rice embryo culture whole-genome

• Alkyltransferase-mediated toxicity of 1,3-butadiene diepoxide.

  PMID 18712882 · PMC2614079 · Chemical research in toxicology · 2008 · 8 claims · 6 setups

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  hAGT expression increases mutations and cytotoxicity following BDO exposure, and hAGT-DNA cross-links form in the presence of BDO

  recombinant wt-hagt [35s]-labelled trg8 sds-page time-course forward

• The lords of the genomes.

  PMID 15461811 · PMC545592 · Genome biology · 2004 · 8 claims · 8 setups

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  Functionally active clusters of transcription-factor binding sites are evolutionarily conserved between Drosophila species, whereas inactive clusters are not, even when sequence identity alone cannot distinguish them

  drosophila cdna-derived saccharomyces acid reporter-gene enhancer chromatin

• Utilization of genomic signatures to identify phenotype-specific drugs.

  PMID 19714244 · PMC2729377 · PloS one · 2009 · 8 claims · 8 setups

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  A RAS pathway gene expression signature applied to NCI-60 cells identifies compounds selectively active against RAS-activated cells, including the MEK inhibitor Hypothemycin

  nci-60 breast mda-mb-231 signature-drug gene signature