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).

• Mixed Cryptosporidium infections and HIV.

  PMID 16707069 · PMC3373040 · Emerging infectious diseases · 2006 · 7 claims · 5 setups

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  Mixed Cryptosporidium infections were detected in 7 of 21 patients originally diagnosed with only C. canis or C. felis

  stool nested ssu sequencing

• Sequence variations of GRM6 in patients with high myopia.

  PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups

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  Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls

  genomic pcr mglur6 grm6 pcr heteroduplex pcr-restriction

• Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

  PMID 15608400 · PMC2816285 · Journal of Korean medical science · 2004 · 7 claims · 6 setups

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  Developed a reliable quantitative real-time PCR assay using SMN1-specific primers, SYBR Green I dye, and the comparative Ct (ΔΔCt) method, normalized to albumin, to determine SMN1 copy number

  genomic peripheral quantitative multiplex pcr-restriction

• Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.

  PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups

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  No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers

  peripheral pcr bacteremia pcr-rflp sequencing blood

• The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients.

  PMID 11207040 · PMC2363769 · British journal of cancer · 2001 · 5 claims · 1 setups

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  The carrier frequency of the three predominant Jewish BRCA1/2 mutations in unselected Ashkenazi CRC patients (1.78%) is similar to that reported in the general Ashkenazi population.

  peripheral pcr-rflp

• The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

  PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups

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  The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association

  peripheral clinical pcr-rflp single sequencing

• Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.

  PMID 20040103 · PMC2808306 · BMC medical genetics · 2009 · 6 claims · 5 setups

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  Long form DRD4 uVNTR alleles (≥5 repeats) are associated with increased risk of schizophrenia

  blood-derived case-control pcr-rflp direct pcr-based

• Interaction of vitamin D receptor with HLA DRB1 0301 in type 1 diabetes patients from North India.

  PMID 19956544 · PMC2780726 · PloS one · 2009 · 8 claims · 6 setups

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  Interaction between VDR and HLA alleles is mediated by a VDRE present in the promoter region of HLA-DRB1*0301, which may be detrimental in the absence of 1,25-(OH)2D3 in early childhood.

  blood genotype hla-drb1*0301 drb1*0301-carrying pcr-rflp pcr haplotype

• Prognostic significance of p53 and ras gene abnormalities in lung adenocarcinoma patients with stage I disease after curative resection.

  PMID 7852188 · PMC5919395 · Japanese journal of cancer research : Gann · 1994 · 6 claims · 5 setups

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  Presence of p53 gene abnormalities is associated with shorter disease-free survival in stage I lung adenocarcinoma

  formalin-fixed stage pcr-dgge immunohistochemistry pcr-rflp

• Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

  PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups

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  The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD

  genomic same pooled pcr-rflp pcr-based cross-tabulation

• A novel approach for rapid screening of mitochondrial D310 polymorphism.

  PMID 16433919 · PMC1388229 · BMC cancer · 2006 · 7 claims · 4 setups

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  A single-step BsaXI RFLP assay can rapidly determine 7-C carriers at the D310 first polyC stretch of mtDNA without sequencing

  colorectal breast peripheral subset pcr-rflp sanger

• Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.

  PMID 17895983 · PMC1976591 · PloS one · 2007 · 8 claims · 5 setups

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  Sequencing of complete mtDNA genomes in 23 pediatric patients identified 27 significant variants (12 novel, 15 known) associated with mitochondrial encephalomyopathies.

  blood-derived lymphocytes maternal wild-type complete respiratory pcr-rflp

• CNGA3 mutations in two United Arab Emirates families with achromatopsia.

  PMID 18636117 · PMC2464613 · Molecular vision · 2008 · 8 claims · 5 setups

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  Achromatopsia in two UAE families is caused by mutations in CNGA3: Arg283Trp and Gly397Val

  achromatopsia genomic hek293 clinical pcr segregation

• Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

  PMID 20003313 · PMC2797770 · Cardiovascular diabetology · 2009 · 7 claims · 6 setups

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  The Val/Met255 mutation (G→A substitution at codon 255) in HNF4α is present at a considerable frequency among Iranian clinical MODY patients

  peripheral serum pcr-rflp sanger biochemical

• The D2 dopamine receptor gene and nicotine dependence among bladder cancer patients and controls.

  PMID 19842028 · PMC3719969 · Behavior genetics · 2010 · 8 claims · 5 setups

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  Among ever-smoking controls, A1 and B1 genotypes were associated with greater smoking intensity and younger age at smoking initiation than A2A2/B2B2

  peripheral bladder current genotype pcr-rflp structured fagerström

• PRLTS gene alterations in human prostate cancer.

  PMID 9197531 · PMC5921422 · Japanese journal of cancer research : Gann · 1997 · 5 claims · 3 setups

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  LOH at the PRLTS gene locus is a relatively common abnormality in prostate cancer

  tumor metastatic loh pcr-sscp sequencing

• HFE H63D mutation frequency shows an increase in Turkish women with breast cancer.

  PMID 16503999 · PMC1402308 · BMC cancer · 2006 · 6 claims · 2 setups

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  HFE H63D allele frequency is significantly higher in Turkish breast cancer patients (22.2%) than in healthy controls (14%)

  archived same pcr-rflp statistical

• 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

• Detection of the DCC gene product in normal and malignant colorectal tissues and its relation to a codon 201 mutation.

  PMID 9484816 · PMC2149930 · British journal of cancer · 1998 · 6 claims · 5 setups

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  DCC protein expression is lost in the majority of colorectal tumours while retained in all normal colonic tissue

  matched cryosections genomic pcr-rflp rt-pcr northern

• Lack of mutation at codon 531 of SRC in advanced colorectal cancers from Italian patients.

  PMID 11161376 · PMC2363715 · British journal of cancer · 2001 · 6 claims · 4 setups

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  No SRC codon 531 mutation was detected in any of 155 Italian colorectal cancer cases (171 tissue specimens, primary tumours and liver metastases)

  colorectal liver scalar subset pcr-rflp direct