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).

• Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts.

  PMID 19835606 · PMC2784330 · Genome biology · 2009 · 7 claims · 2 setups

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  Hybrid selection of cDNA dramatically increases the specificity of sequencing reads mapping to targeted cancer-related transcripts.

  k-562 targeted sanger

• C-terminal mutants of apolipoprotein L-I efficiently kill both Trypanosoma brucei brucei and Trypanosoma brucei rhodesiense.

  PMID 19997494 · PMC2778949 · PLoS pathogens · 2009 · 8 claims · 8 setups

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  The C-terminal helix of apoL1 is entirely responsible for its interaction with SRA

  coli brucei computational papio bacterial trypanolytic nickel-bead

• Molecular phylogeny of the antiangiogenic and neurotrophic serpin, pigment epithelium derived factor in vertebrates.

  PMID 17020603 · PMC1609119 · BMC genomics · 2006 · 8 claims · 8 setups

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  A single PEDF gene is present in all examined vertebrate species but is absent from invertebrates (D. melanogaster, C. elegans, C. intestinalis)

  vertebrate cdna pedf complete genomic rt-pcr phylogenetic

• The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

  PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups

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  NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots

  blood-derived lymphocytes blood unrelated genomic rt-pcr microsatellite

• Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

  PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups

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  All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix

  dermal skeletal fibroblast confluent rt-pcr immunohistochemistry biosynthetic

• Mutational inactivation of mitotic checkpoint genes, hsMAD2 and hBUB1, is rare in sporadic digestive tract cancers.

  PMID 10543255 · PMC5926140 · Japanese journal of cancer research : Gann · 1999 · 6 claims · 4 setups

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  Mutation of the hsMAD2 gene was not observed in any of the 32 sporadic digestive tract cancers examined.

  sporadic same tumor hsmad2 rt-pcr-sscp dnase direct

• Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

  PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups

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  Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.

  genomic pcr family truncation pcr multiplex

• Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

  PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups

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  The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.

  bac heart ccs genomic genomic rt-pcr transcription

• Recombinant vaccine-derived poliovirus in Madagascar.

  PMID 12899139 · PMC3023450 · Emerging infectious diseases · 2003 · 7 claims · 4 setups

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  Five acute flaccid paralysis cases in southern Madagascar were associated with vaccine-derived poliovirus (VDPV) type 2 isolates

  poliovirus genbank rflp partial sequence

• Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene.

  PMID 15757516 · PMC555945 · BMC genomics · 2005 · 8 claims · 8 setups

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  Mouse has a transcribed, 7-exon L-threonine aldolase (GLY1) gene on chromosome 11 encoding a 400-residue protein homologous to bacterial threonine aldolase

  liver genomic tissues embryos rt-pcr genomic secondary

• OncoDB.HCC: an integrated oncogenomic database of hepatocellular carcinoma revealed aberrant cancer target genes and loci.

  PMID 17098932 · PMC1669730 · Nucleic acids research · 2007 · 7 claims · 6 setups

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  OncoDB.HCC integrates human HCC LOH, CGH, microarray/proteomic expression, PubMed-reported gene data, and rodent HCC QTLs into a single physical-map-based database

  paired hcc rodent semi-quantitative microarray comparative

• Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.

  PMID 18836565 · PMC2556974 · Molecular vision · 2008 · 8 claims · 5 setups

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  Haplotype association analysis refines the BCSE-linked region on BTA18 to a 6.82 Mb interval spanning 56.05–62.87 Mb

  eye genomic tnnt1 cdna genomic snp

• 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

• Comparative genomic analysis and evolution of the T cell receptor loci in the opossum Monodelphis domestica.

  PMID 18312668 · PMC2275272 · BMC genomics · 2008 · 8 claims · 5 setups

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  The conventional TCR loci (TRA/D, TRB, TRG) in opossum are highly conserved in organization and complexity with those of eutherian mammals.

  monodelphis 23-day-old trav trbv comparative rt-pcr phylogenetic

• Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.

  PMID 18302774 · PMC2266716 · BMC medical genetics · 2008 · 8 claims · 4 setups

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  The SNF2L gene spans 77 kb and is encoded by 25 exons that undergo alternative splicing to generate multiple distinct transcripts.

  lines genomic 293hek rt-pcr genomic indirect

• Mutation analysis in primary immunodeficiency diseases: case studies.

  PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups

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  Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results

  mother parents ebv-transformed nemo genomic flow northern

• Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.

  PMID 19640284 · PMC2726130 · BMC medical genetics · 2009 · 7 claims · 4 setups

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  The retinoblastoma proband carries a novel constitutive RB1 mutation (g.2056C>G) at position -4 of the 5'UTR Kozak consensus sequence, absent in her father and unaffected sisters

  genomic proband's pcr rt-pcr multiplex

• Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

  PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups

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  A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.

  bone fibroblast 32d.cl8.6 32d rt-pcr genomic flow

• Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline.

  PMID 12546714 · PMC149328 · BMC genetics · 2003 · 8 claims · 5 setups

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  A human oocyte-specific DNMT1 isoform (DNMT1o), driven by a novel upstream exon 1o, is expressed in mature oocytes and early embryos but not in somatic tissues

  oocytes genomic fbhm population rt-pcr est direct

• Widespread A-to-I RNA editing of Alu-containing mRNAs in the human transcriptome.

  PMID 15534692 · PMC526178 · PLoS biology · 2004 · 8 claims · 6 setups

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  Intramolecular pairs of oppositely oriented Alu elements within the same pre-mRNA form dsRNA foldback structures that are major substrates for A-to-I RNA editing

  huge brain pre-mrna greater genomic rt-pcr quantitative