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).

• In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

  PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups

  Full-text index only

  A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).

  genomic muscle skeletal direct topo genescan

• Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain.

  PMID 15737014 · PMC549606 · PLoS medicine · 2005 · 7 claims · 6 setups

  Full-text index only

  A secondary EGFR exon 20 mutation (T790M) is found in tumors from patients with acquired resistance to gefitinib or erlotinib

  tumor 293t nsclc direct fluorescent rt-pcr

• High incidence of human bocavirus infection in children in Spain.

  PMID 17904416 · PMC7108365 · Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology · 2007 · 8 claims · 6 setups

  Full-text index only

  HBoV is a significant contributor to acute lower respiratory tract infection in young children in Spain

  nasopharyngeal cloned hbov-positive urine nested multiplex sanger

• Geographic distribution and genetic diversity of the Ehrlichia sp. from Panola Mountain in Amblyomma americanum.

  PMID 18433500 · PMC2394526 · BMC infectious diseases · 2008 · 8 claims · 6 setups

  Full-text index only

  PME was not recently introduced to the United States, given its extensive geographic distribution, multi-year persistence at sites, and genetic variability

  amblyomma pme-positive map1 nested pcr sanger

• Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

  PMID 10780518 · PMC2363369 · British journal of cancer · 2000 · 8 claims · 4 setups

  Full-text index only

  Germline mutations of STK11 were found in 5 of 10 Korean PJS patients screened

  genomic pcr pcr-single-strand cloning pcr-sscp

• Mosaicism in von Hippel-Lindau disease: an event important to recognize.

  PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups

  Full-text index only

  The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.

  peripheral father's pcr proband dhplc sanger semiquantitative

• Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

  PMID 18489799 · PMC2413254 · BMC cancer · 2008 · 8 claims · 6 setups

  Full-text index only

  Pathogenic BRCA1/BRCA2 mutations were identified in 294 of 1,010 (29.1%) unrelated high-risk Czech probands

  genomic pcr-amplified brca1 pha-stimulated truncation heteroduplex direct

• New approaches to the analysis of palindromic sequences from the human genome: evolution and polymorphism of an intronic site at the NF1 locus.

  PMID 16340004 · PMC1310899 · Nucleic acids research · 2005 · 7 claims · 8 setups

  Full-text index only

  Long pure palindromes (>~200 bp) cannot be stably cloned in E.coli due to cruciform-driven instability, and no E.coli mutant fully overcomes this cloning block.

  individuals e.coli cerevisiae yeast pcr plasmid phi-29

• Endonuclease-independent insertion provides an alternative pathway for L1 retrotransposition in the human genome.

  PMID 17517773 · PMC1920257 · Nucleic acids research · 2007 · 8 claims · 5 setups

  Full-text index only

  An endonuclease-independent pathway (NCLI) for L1 insertion has been active in recent human genome evolution

  genome chimpanzee genomic pcr computational triple pcr

• Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.

  PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups

  Full-text index only

  Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.

  csf 293t genomic pcr western recombinant sequencing