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).

• 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

  Full-text index only

  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

• An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer.

  PMID 18676830 · PMC2680495 · Cancer research · 2008 · 8 claims · 5 setups

  Full-text index only

  PIK3CA mutations are more common in hormone receptor-positive and HER2-positive tumors than in basal-like breast cancers

  breast hormone early-stage mass sanger reverse-phase

• Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia.

  PMID 19007591 · PMC3423908 · Journal of the American College of Cardiology · 2008 · 8 claims · 3 setups

  Full-text index only

  A substantial proportion (20%) of patients with a clinical diagnosis of FCHL carry functional LDLR mutations typically associated with FH

  unrelated same subset targeted gene apoe

• Frequent p53 mutation in brain (fetal)-type glycogen phosphorylase positive foci adjacent to human 'de novo' colorectal carcinomas.

  PMID 11384100 · PMC2363669 · British journal of cancer · 2001 · 7 claims · 6 setups

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  BGP positive foci occur sporadically in the transitional mucosa adjacent to 'de novo' colorectal carcinomas in all cases studied

  colorectal microdissected pcr-amplified immunohistochemistry pcr-sscp cloning

• Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

  PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups

  Full-text index only

  JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.

  bone remission sanger pyrosequencing paired

• Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

  PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups

  Full-text index only

  Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21

  genomic ush2 ush2a sscp audiological ophthalmological

• Mutation patterns of mtDNA: empirical inferences for the coding region.

  PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups

  Full-text index only

  Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.

  extended-family same direct electropherogram molecular

• Evaluation of models to predict BRCA germline mutations.

  PMID 17016486 · PMC2360540 · British journal of cancer · 2006 · 7 claims · 7 setups

  Full-text index only

  Four commonly used BRCA risk prediction models (BRCAPRO, Manchester, Penn, Myriad-Frank) have only modest ability to rule in or rule out BRCA1/2 germline mutation carrier status at a 10% probability threshold.

  proband pedigrees randomly brca1 brcapro manchester

• Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

  PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

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  TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

  genomic healthy irish case mutation direct taqman

• Extraction of human kinase mutations from literature, databases and genotyping studies.

  PMID 19758464 · PMC2745582 · BMC bioinformatics · 2009 · 7 claims · 6 setups

  Full-text index only

  A literature mining pipeline combining MutationFinder, false-positive filtering, and SVM-based classification can extract and disambiguate single-point mutation mentions from abstracts and full text

  pubmed large labeled swissprot literature supervised comparative

• The continuing search for cancer-causing somatic mutations.

  PMID 17319975 · PMC1851399 · Breast cancer research : BCR · 2007 · 8 claims · 3 setups

  Full-text index only

  A screen of 91 breast cancers uncovered 87 somatic variants spread across 16 of the 21 genes examined

  breast limited targeted gene temporal

• Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.

  PMID 16404428 · PMC2361126 · British journal of cancer · 2006 · 6 claims · 5 setups

  Full-text index only

  Somatic mtDNA mutations occur in renal cell carcinoma but are infrequent and frequently present at low (below 25%) heteroplasmy levels

  renal dhplc direct pcr-restriction

• Association between telomere length and V(H) gene mutation status in chronic lymphocytic leukaemia: clinical and biological implications.

  PMID 12592375 · PMC2377180 · British journal of cancer · 2003 · 7 claims · 5 setups

  Full-text index only

  Unmutated VH gene CLL cases have significantly shorter telomeres than mutated VH gene CLL cases

  cll subset pcr southern real-time

• A common missense variant in BRCA2 predisposes to early onset breast cancer.

  PMID 16280055 · PMC1410744 · Breast cancer research : BCR · 2005 · 7 claims · 4 setups

  Full-text index only

  BRCA2 C5972T homozygosity (TT genotype) is rare but confers a roughly five-fold increased risk of breast cancer.

  peripheral blood-derived blood case-control genotyping sequencing mutation

• Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study.

  PMID 15932632 · PMC1177929 · BMC cancer · 2005 · 7 claims · 4 setups

  Full-text index only

  VHL mutations were detected in 61% (114/187) of sporadic clear-cell RCC patients

  archival subset flanking paraffin-embedded pcr-sscp feasibility histopathological

• Expression of full-length p53 and its isoform Deltap53 in breast carcinomas in relation to mutation status and clinical parameters.

  PMID 17054774 · PMC1636663 · Molecular cancer · 2006 · 7 claims · 7 setups

  Full-text index only

  The alternative splice isoform Δp53 mRNA is co-expressed with full-length p53 mRNA in breast tumors and cell lines

  breast universal p53 subset qrt-pcr bioinformatic structure

• Improving melanoma classification by integrating genetic and morphologic features.

  PMID 18532874 · PMC2408611 · PLoS medicine · 2008 · 7 claims · 5 setups

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  BRAF-mutant melanomas show distinct morphological features (upward migration and nesting of intraepidermal melanocytes, epidermal thickening, sharper lateral demarcation, larger/rounder/more pigmented tumor cells) compared to non-mutant melanomas

  archival same subset patients histopathological mutation quantitative

• BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.

  PMID 10952777 · PMC2363542 · British journal of cancer · 2000 · 7 claims · 4 setups

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  11 mutations (9 BRCA1, 2 BRCA2) were identified across 105 Turkish patients using combined PTT, sequencing, and heteroduplex analysis.

  peripheral genomic truncation direct heteroduplex

• ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer.

  PMID 14562025 · PMC2394328 · British journal of cancer · 2003 · 8 claims · 4 setups

  Full-text index only

  Women with bilateral breast cancer show greater genetic predisposition (higher family history prevalence) than women with unilateral breast cancer

  blood-derived blood random dhplc microsatellite duplicate

• Mutant, wild type, or overall p53 expression: freedom from clinical progression in tumours of astrocytic lineage.

  PMID 15494720 · PMC2409947 · British journal of cancer · 2004 · 8 claims · 7 setups

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  Significant overexpression of p53 protein was found in 48% of 74 astrocytic tumours

  archival subset recombinant same immunohistochemistry antibody cytokeratin