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).

• Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.

  PMID 9099956 · PMC2222800 · British journal of cancer · 1997 · 8 claims · 7 setups

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  No sequence mutations were found in the MTHFR gene in ovarian tumors and cell lines despite extensive SSCP screening

  ovarian non-mucinous informative rt-pcr immunohistochemistry pcr-rflp

• Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

  PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups

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  The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer

  breast tumour sscp exon-by-exon southern

• Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4).

  PMID 9989976 · PMC2192941 · The Journal of experimental medicine · 1999 · 8 claims · 8 setups

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  The Lps locus was fine-mapped to a 0.9-cM interval spanning a 1.7-Mb genomic contig on mouse chromosome 4.

  c3h genomic bac multiple-tissue genetic yac direct

• beta- Catenin mutations and aberrant nuclear expression during endometrial tumorigenesis.

  PMID 11161379 · PMC2363713 · British journal of cancer · 2001 · 7 claims · 4 setups

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  Cell membrane β-catenin immunoreactivity shows a stepwise decrease from normal endometrium, through atypical hyperplasia, to grade 3 carcinoma.

  endometrial immunohistochemistry rt-pcr pcr

• Organization and evolution of the Cyp2 gene cluster on mouse chromosome 7, and comparison with the syntenic human cluster.

  PMID 14630516 · PMC1241748 · Environmental health perspectives · 2003 · 8 claims · 6 setups

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  The mouse Cyp2a-t cluster on chromosome 7 contains 22 loci from the same six CYP2 subfamilies (Cyp2a, Cyp2b, Cyp2f, Cyp2g, Cyp2s, Cyp2t) found in the human cluster

  genomic bac nine restriction bac pcr southern

• CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.

  PMID 12556968 · PMC2376780 · British journal of cancer · 2003 · 8 claims · 4 setups

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  RB1 CpG island hypermethylation is a common epigenetic event associated with development of malignant nervous system tumours

  nervous bisulphite-modified same pcr-sscp methylation-specific bisulphite

• Extreme conservation of noncoding DNA near HoxD complex of vertebrates.

  PMID 15462684 · PMC524357 · BMC genomics · 2004 · 7 claims · 7 setups

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  Three blocks of extremely conserved non-coding DNA (CR1, CR2, CR3) exist within 7 kb upstream of the HoxD complex, 3' of Evx-2, conserved from fish to human.

  hoxd genomic pcr pcr-amplified comparative pcr southern

• Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

  PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups

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  A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T

  genomic family chromosomes hela dgge oligonucleotide restriction

• 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

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  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

• Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

  PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups

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  Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)

  peripheral genomic convalescent cdna genomic breakpoint-spanning

• Identification, characterization and comparative genomics of chimpanzee endogenous retroviruses.

  PMID 16805923 · PMC1779541 · Genome biology · 2006 · 8 claims · 6 setups

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  The chimpanzee genome contains at least 42 separate families of endogenous retroviruses, 9 newly identified

  chimpanzee domains genomic hg16 genome-wide sequence ltr-ltr

• Four genomic islands that mark post-1995 pandemic Vibrio parahaemolyticus isolates.

  PMID 16672049 · PMC1464126 · BMC genomics · 2006 · 8 claims · 7 setups

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  Seven genomic islands (VPaI-1 to VPaI-7, 10-81 kb) were identified in V. parahaemolyticus RIMD2210633 by aberrant GC content, presence of integrases/transposases, flanking direct repeats, and absence from related Vibrionaceae genomes.

  parahaemolyticus vulnificus clinical ecori-digested bioinformatic comparative pcr

• Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

  PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups

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  50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.

  genomic α-gal cos-7 transcripts pcr southern microsatellite

• Genetic requirement for pneumococcal ear infection.

  PMID 18670623 · PMC2593789 · PloS one · 2007 · 7 claims · 8 setups

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  STM screening of 5,280 S. pneumoniae ST556 mutants in a chinchilla middle ear infection model identified 169 genes required for ear infection

  pneumoniae bioluminescent balb signature-tagged bioluminescent transmission

• Widely variable endogenous retroviral methylation levels in human placenta.

  PMID 17617638 · PMC1950553 · Nucleic acids research · 2007 · 6 claims · 6 setups

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  Three HERV-E LTRs that function as alternative gene promoters (LTR-PTN, LTR-EBR, LTR-MID1) are unmethylated in placenta but heavily methylated in blood cells, where they are not active promoters

  term placenta genome bisulfite rt-pcr genome-wide

• Mutations in NYX of individuals with high myopia, but without night blindness.

  PMID 17392683 · PMC2642916 · Molecular vision · 2007 · 7 claims · 5 setups

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  Two novel NYX missense mutations (Cys48Trp and Arg191Gln) were found in unrelated males with high myopia but no night blindness.

  unrelated individuals high model direct sequencing electroretinogram

• Bacteriophage Mu integration in yeast and mammalian genomes.

  PMID 18953026 · PMC2602771 · Nucleic acids research · 2008 · 8 claims · 8 setups

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  In vitro-assembled Mu transpososomes, delivered by electroporation, efficiently integrate marker genes into yeast, mouse ES, human HeLa, and human ES cell genomes

  cerevisiae ab2.2 hela fes29 electroporation southern transposition

• Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.

  PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups

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  Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients

  pbls fibroblasts cd19+ rt-pcr genomic western

• Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

  PMID 18818683 · PMC2756756 · Kidney international · 2008 · 8 claims · 8 setups

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  Developed an MLPA assay with PKD1 exon 1-33 probes designed at single base-pair mismatches with the six PKD1 pseudogenes to achieve locus specificity

  blood-derived blood crisp father mlpa long-range field

• Structural and functional divergence of two fish aquaporin-1 water channels following teleost-specific gene duplication.

  PMID 18811940 · PMC2564943 · BMC evolutionary biology · 2008 · 8 claims · 8 setups

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  Teleosts, unlike tetrapods, possess two closely linked paralogous AQP1 genes, aqp1a and aqp1b (formerly AQP1o), arising from a teleost-specific duplication of an ancestral AQP1 gene

  aqp1-like pufferfish tissues xenopus phylogenetic genomic rt-pcr