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).

• 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

• Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

  PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups

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  The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect

  genomic pcr-amplified case-control pon1 single-strand direct genetic

• Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease.

  PMID 16519809 · PMC1420326 · BMC genetics · 2006 · 7 claims · 2 setups

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  p66Shc gene increases intracellular reactive oxygen species (ROS), affecting the rate of oxidative damage to nucleic acids

  genomic pcr-single direct

• A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

  PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

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  The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

  peripheral g2385r patients genotype pcr full clinical

• Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.

  PMID 16504056 · PMC1402321 · BMC genetics · 2006 · 7 claims · 8 setups

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  No statistical evidence of a major association between T1D and any of the interferon or interferon-related genes tested (IFNA cluster, IFNB1, IFNW1, IFNG, ICSBP1)

  t1d european warren resequencing database tag

• A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.

  PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups

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  A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing

  blood variant patients same sscp sanger pcr-rflp

• Polymorphism and epitope sharing between the alleles of merozoite surface protein-1 of Plasmodium falciparum among Indian isolates.

  PMID 17659072 · PMC1950510 · Malaria journal · 2007 · 7 claims · 6 setups

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  PfMAD20 is the predominant PfMSP-1 allelic type among Indian field isolates

  falciparum escherichia coli-expressed recombinant pcr recombinant sds-page

• Infrequent somatic mutation of the MTS1 gene in primary bladder carcinomas.

  PMID 7744694 · PMC5920817 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 3 setups

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  MTS1/CDK4I is a candidate tumor suppressor gene located on chromosome 9p21

  bladder sscp sequencing allelic

• Epithelial ovarian cancer: influence of polymorphism at the glutathione S-transferase GSTM1 and GSTT1 loci on p53 expression.

  PMID 8956789 · PMC2077203 · British journal of cancer · 1996 · 8 claims · 4 setups

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  GSTM1, GSTT1 and CYP2D6 genotype/allele frequencies did not differ significantly between 84 ovarian cancer cases and 325 controls, showing no association with disease susceptibility.

  leucocyte paraffin-embedded tumour pcr-amplified pcr-based immunohistochemistry single-strand

• 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

• MTHFR 677C>T and ACE D/I polymorphisms in migraine: a systematic review and meta-analysis.

  PMID 19925624 · PMC3071567 · Headache · 2010 · 6 claims · 3 setups

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  The MTHFR 677TT genotype is associated with increased risk of migraine with aura but not migraine without aura

  migraineurs pooled genotyping meta-analysis

• Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history.

  PMID 16389418 · PMC11060407 · Sao Paulo medical journal = Revista paulista de medicina · 2005 · 8 claims · 2 setups

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  BRCA1 or BRCA2 mutations were detected in 4 of 31 (13%) Brazilian breast cancer patients with positive family history

  genomic single-strand direct

• The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study.

  PMID 17615072 · PMC2206364 · Arthritis research & therapy · 2007 · 8 claims · 2 setups

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  The ITGAV rs3738919-C allele is significantly associated with rheumatoid arthritis in European Caucasian trio families

  genomic same pcr-restriction affected

• Crystallin gene mutations in Indian families with inherited pediatric cataract.

  PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups

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  Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population

  genomic pcr affected pediatric single direct restriction

• A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms.

  PMID 15592405 · PMC2263125 · Nature · 2004 · 8 claims · 8 setups

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  A genetic variation map of 2.8 million SNPs was constructed for chicken by comparing 3 domestic breeds to Red Jungle Fowl

  domestic red same white partial comparative pcr

• Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.

  PMID 10755399 · PMC2374482 · British journal of cancer · 2000 · 8 claims · 3 setups

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  Only 25% (8/32) of the Spanish breast/ovarian cancer families carried a BRCA1 or BRCA2 mutation

  genomic truncation single-strand direct

• Expanding the vision of environmental health at UNC-CH.

  PMID 15248304 · PMC1247395 · Environmental health perspectives · 2004 · 8 claims · 8 setups

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  Human breast tumors arise from at least two distinct cell types, basal and luminal epithelial, with different clinical behavior

  breast chinese carolina rodent microarray functional genetic

• Identification of deleterious non-synonymous single nucleotide polymorphisms using sequence-derived information.

  PMID 18588693 · PMC2446391 · BMC bioinformatics · 2008 · 8 claims · 5 setups

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  A decision tree built on 10 selected sequence-derived features classifies SAPs as Disease or Polymorphism with 82.6% accuracy and 0.607 MCC in cross-validation.

  sap sequence-derived humvar same decision independent greedy

• Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

  PMID 20057906 · PMC2802294 · Molecular vision · 2009 · 7 claims · 4 setups

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  Screening of 32 Chinese patients with microphthalmia and/or coloboma across ten candidate genes revealed no clearly causative mutation.

  genomic unrelated bmp4 sanger restriction heteroduplex-single

• BRCA1 and BRCA2 mutations in central and southern Italian patients.

  PMID 11056688 · PMC13918 · Breast cancer research : BCR · 2000 · 8 claims · 4 setups

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  Deleterious germline BRCA1/BRCA2 mutations were detected in 11 of 136 (8%) unrelated Italian breast/ovarian cancer probands.

  genomic peripheral truncation single-strand direct