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 androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

  PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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  The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers

  peripheral brca1 same simulated fluorescent cox weighted

• Leber's hereditary optic neuropathy--case report and literature review.

  PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups

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  Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON

  peripheral left optic visual pcr muscle visual

• 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

• TP53 intron 6 polymorphism and the risk of ovarian and breast cancer.

  PMID 9484829 · PMC2149940 · British journal of cancer · 1998 · 5 claims · 2 setups

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  The N' allele (G-to-A variant) is significantly more prevalent in ovarian cancer patients than in controls (P=0.01)

  peripheral genotype pcr chi-square

• 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

• The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.

  PMID 16688411 · PMC3451703 · The journal of headache and pain · 2006 · 7 claims · 3 setups

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  No association was found between COMT Val158Met polymorphism and migraine in a population-based sample.

  peripheral population hunt genotyping structured extraction

• Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis.

  PMID 17163998 · PMC1762011 · BMC gastroenterology · 2006 · 7 claims · 2 setups

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  The ACE I/D polymorphism shows no significant association with TCP or FCPD pathogenesis, fibrosis, or progression

  peripheral pcr sanger

• Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

  PMID 10780518 · PMC2363369 · British journal of cancer · 2000 · 8 claims · 4 setups

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  Germline mutations of STK11 were found in 5 of 10 Korean PJS patients screened

  genomic pcr pcr-single-strand cloning pcr-sscp

• PAX6 gene variations associated with aniridia in south India.

  PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups

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  Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)

  genomic pcr aniridia sscp automated allele-specific

• 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

• A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.

  PMID 17554401 · PMC1885554 · International journal of medical sciences · 2007 · 8 claims · 6 setups

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  A novel VNTR polymorphism (TTTC repeat) was discovered at -1241 nucleotides in the 5'-flanking region of NPPB, with 8 alleles ranging from 9 to 19 repeats.

  genomic plasma serum n=317 pcr-sscp nucleotide genotyping

• 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

• Tissue plasminogen activator and plasminogen activator inhibitor type 1 gene polymorphism in patients with gastric ulcer complicated with bleeding.

  PMID 12589088 · PMC3054991 · Journal of Korean medical science · 2003 · 6 claims · 5 setups

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  The t-PA I/D or D/D genotype is significantly associated with duodenal (vs gastric) ulcer location

  genomic randomly patients endoscopic allele-specific pcr logistic

• The role of X-chromosome inactivation in female predisposition to autoimmunity.

  PMID 11056674 · PMC17816 · Arthritis research · 2000 · 6 claims · 2 setups

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  Skewed X-chromosome inactivation in the thymus could lead to inadequate thymic deletion of T cells reactive to X-linked polymorphic self-antigens, predisposing to autoimmunity

  peripheral fluorescent pcr

• 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

• 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

• Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.

  PMID 17945002 · PMC2242669 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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  -26G>A polymorphism in the BRCA2 5' UTR is functional: the A allele drives roughly twice the reporter gene expression of the G allele in MCF-7 and HeLa cells

  mcf-7 hela brca2 peripheral luciferase transcription genotyping

• Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

  PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups

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  A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP

  peripheral genomic cdna truncation sscp d-hplc

• Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

  PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups

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  Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).

  genomic oa1 one gpr143 pcr heteroduplex junction-fragment

• A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

  PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups

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  A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.

  genomic excised left pcr pcr-restriction histopathology