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).

• Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

  PMID 20011630 · PMC2790479 · Molecular vision · 2009 · 8 claims · 5 setups

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  MDH1 is not the causative gene for RP28-linked autosomal recessive retinitis pigmentosa

  genomic lr-pcr uhts v-4 long-range ultra sanger

• Genomic and epigenetic instability in colorectal cancer pathogenesis.

  PMID 18773902 · PMC2866182 · Gastroenterology · 2008 · 8 claims · 7 setups

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  Genomic instability (CIN or MSI) is a key early molecular step in colorectal tumorigenesis that may initiate rather than merely accompany the adenoma-carcinoma sequence

  colon embryonic colorectal inter immunohistochemistry karyotype

• Loss of cyclin-dependent kinase inhibitor genes and chromosome 9 karyotypic abnormalities in human bladder cancer cell lines.

  PMID 7577470 · PMC2033929 · British journal of cancer · 1995 · 8 claims · 4 setups

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  Homozygous deletion of both p15 and p16 occurred in 7 of 13 (54%) independent bladder cancer cell lines tested

  bladder pcr pcr cytogenetic arbitrary

• Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

  PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups

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  MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments

  blood pkd1 pcr-purified genomic long nested-pcr mrf-sscp

• Identification of new ETV6 modulators through a high-throughput functional screening.

  PMID 35198911 · PMC8851229 · iScience · 2022 · 7 claims · 8 setups

  Has reproduction · 68

  A genome-wide shRNA screen in an engineered ETV6-dependent Blasticidin-sensitive pre-B ALL cell line can identify modulators of ETV6 repressive transcriptional activity

  reh genome-wide qrt-pcr chip-seq

• Bisulfite sequencing of chromatin immunoprecipitated DNA (BisChIP-seq) directly informs methylation status of histone-modified DNA.

  PMID 22466171 · PMC3371705 · Genome research · 2012 · 8 claims · 8 setups

  Has reproduction · 80

  BisChIP-seq — bisulfite sequencing of chromatin immunoprecipitated DNA — enables direct genome-wide, base-resolution interrogation of DNA methylation on histone-modified DNA molecules

  lncap sonicated adaptor-modified native bischip-seq chromatin chip-qpcr

• Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

  PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups

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  RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene

  peripheral patient-parent genomic crebbp karyotyping bac microsatellite

• Genomic sequencing of the severe acute respiratory syndrome-coronavirus.

  PMID 16916263 · PMC7121524 · Methods in molecular biology (Clifton, N.J.) · 2006 · 7 claims · 7 setups

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  PCR-based amplification and direct sequencing of SARS-CoV genome fragments is feasible from uncultured clinical specimens (serum, nasopharyngeal aspirate, stool), avoiding culture-derived artifacts and biohazard risk.

  sars-cov extracted cdna pcr viral reverse real-time

• The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.

  PMID 11161380 · PMC2363702 · British journal of cancer · 2001 · 7 claims · 7 setups

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  No CDX2 mutations predisposing to sporadic colorectal cancer were identified

  genomic pcr cdna informative sscp pcr automated

• Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers.

  PMID 10027311 · PMC2362423 · British journal of cancer · 1999 · 6 claims · 5 setups

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  Abnormal (aberrant) TSG101 transcripts are common in both cancerous and non-cancerous cervical/endometrial tissue as well as in normal peripheral mononuclear cells

  cervical peripheral rt-pcr southern long

• A paradigm for virus-host coevolution: sequential counter-adaptations between endogenous and exogenous retroviruses.

  PMID 17997604 · PMC2065879 · PLoS pathogens · 2007 · 8 claims · 5 setups

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  Two enJSRV proviruses (enJS56A1 and enJSRV-20) independently acquired a defective, transdominant Gag (R21W substitution) that blocks late replication steps of exogenous JSRV/ENTV

  sheep nih3t3 domestic enjsrv bac retroviral locus-specific

• Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).

  PMID 19133980 · PMC4303606 · British journal of haematology · 2009 · 7 claims · 6 setups

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  Downregulation of GR mRNA in the resistant myeloma cell line is caused by a block to transcriptional elongation within intron B of the GR gene

  mm.1s pcr demethylating quantitative

• 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

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  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

• X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa.

  PMID 14641931 · PMC317313 · BMC pediatrics · 2003 · 7 claims · 5 setups

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  This is the first fully characterized South African family with X-linked hyper-IgM syndrome (HIGM1)

  activated pbmcs genomic pcr flow rt-pcr long-range

• Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

  PMID 18615205 · PMC2443751 · Molecular vision · 2008 · 8 claims · 5 setups

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  The family's late-onset ectopia lentis and secondary glaucoma phenotype shows genetic linkage to the FBN1 locus on chromosome 15q21.1

  family genomic pcr-amplified two-point direct single

• Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

  PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups

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  Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations

  genomic pcr-amplified pcr truncation single-strand heteroduplex

• iMapper: a web application for the automated analysis and mapping of insertional mutagenesis sequence data against Ensembl genomes.

  PMID 18974167 · PMC2639305 · Bioinformatics (Oxford, England) · 2008 · 6 claims · 3 setups

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  iMapper is a web application for automated analysis and mapping of insertional mutagenesis sequence data against vertebrate and invertebrate Ensembl genomes (human, mouse, rat, zebrafish, Drosophila, S. cerevisiae).

  piggybac splinkerette-pcr-derived sequence splinkerette genome throughput

• Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.

  PMID 8513767 · PMC1519656 · Environmental health perspectives · 1993 · 7 claims · 4 setups

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  In vivo hprt mutants from 63 independent donors were molecularly characterized by cDNA and genomic DNA PCR/sequencing.

  peripheral hprt-mutant pcr limiting cdna multiplex

• Numbers of mutations to different types of colorectal cancer.

  PMID 16202134 · PMC1266026 · BMC cancer · 2005 · 8 claims · 5 setups

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  Different biologic subtypes of colorectal cancer require different numbers of oncogenic mutations before transformation

  colorectal germline finnish seer microsatellite germline bayesian

• Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.

  PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups

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  Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes

  colonic astrocytoma breast microdissected immunohistochemistry microsatellite truncation