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).

• Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

  PMID 16652333 · PMC1828612 · Human mutation · 2006 · 7 claims · 6 setups

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  FBLN5 missense mutations are associated with ARMD in a European (UK/Dutch) cohort, confirming prior US findings

  armd dutch fibulin pef6-ssflag mutation computational site-directed

• Role of FGFR3 in urothelial cell carcinoma: biomarker and potential therapeutic target.

  PMID 17912529 · PMC4876910 · World journal of urology · 2007 · 8 claims · 8 setups

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  Activating FGFR3 mutations occur frequently in bladder cancer and are strongly associated with low tumour grade and stage

  bladder normal urothelial mutation allele-specific laser

• Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.

  PMID 8613431 · PMC5921088 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 4 setups

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  hMSH2 germline mutations were detected in 5 of 36 Japanese HNPCC kindreds (14%)

  peripheral tumor sscp somatic loss

• Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

  PMID 14970868 · PMC2410159 · British journal of cancer · 2004 · 7 claims · 5 setups

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  A large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing despite its benefits.

  colorectal formalin-fixed germline first-degree microsatellite immunohistochemistry mutation

• 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

• Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

  PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups

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  Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family

  hek immunoprecipitated tsc2 peripheral coimmunoprecipitation rheb s6k-t389

• Detection of p53 gene mutations in aspiration biopsy specimens from suspected breast cancers by polymerase chain reaction-single strand conformation polymorphism analysis.

  PMID 7730136 · PMC5920757 · Japanese journal of cancer research : Gann · 1995 · 4 claims · 4 setups

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  Detection of p53 gene mutation by PCR-SSCP in aspirated breast biopsy specimens is a helpful method for more accurate diagnosis of suspected breast cancer

  aspiration aspirated biopsy pcr-sscp flow p53

• Alterations of E-cadherin and beta-catenin in gastric cancer.

  PMID 11747475 · PMC60969 · BMC cancer · 2001 · 8 claims · 5 setups

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  High frequency (75%) of loss of heterozygosity (LOH) at 16q22.1, the E-cadherin locus, occurs in primary gastric tumours

  gastric normal paraffin-embedded loh mutation a592t

• Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.

  PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups

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  A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma

  ovarian case matched same pcr-sscp subcloning loh

• Mutation of the p53 gene precedes aneuploid clonal divergence in colorectal carcinoma.

  PMID 7841032 · PMC2033599 · British journal of cancer · 1995 · 7 claims · 5 setups

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  p53 mutation occurs as a single clonal event that precedes and may facilitate aneuploid clonal divergence in colorectal carcinoma

  tumour plpd-fixed frozen pcr-sscp dideoxy restriction

• Mutation analysis of the WT1 gene in myelodysplastic syndromes.

  PMID 9765617 · PMC5921914 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 3 setups

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  WT1 mutations are uncommon overall in MDS

  bone pcr pcr-sscp subcloning direct

• Mutational inactivation of mitotic checkpoint genes, hsMAD2 and hBUB1, is rare in sporadic digestive tract cancers.

  PMID 10543255 · PMC5926140 · Japanese journal of cancer research : Gann · 1999 · 6 claims · 4 setups

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  Mutation of the hsMAD2 gene was not observed in any of the 32 sporadic digestive tract cancers examined.

  sporadic same tumor hsmad2 rt-pcr-sscp dnase direct

• 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

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  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

• CHEK2 variants associate with hereditary prostate cancer.

  PMID 14612911 · PMC2394451 · British journal of cancer · 2003 · 8 claims · 6 setups

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  CHEK2 1100delC frameshift mutation is significantly more frequent in Finnish HPC patients than in population controls

  index hpc unselected affected sscp sequencing minisequencing

• Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

  PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups

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  OPTC is a candidate gene involved in POAG pathogenesis

  genomic pcr optc retinal pcr-sscp dhplc sequencing

• Mutational analysis of oncogenic AKT E17K mutation in common solid cancers and acute leukaemias.

  PMID 18392055 · PMC2391109 · British journal of cancer · 2008 · 7 claims · 8 setups

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  AKT1 E17K mutation occurs in breast cancers at a low frequency (4/93, 4.3%)

  breast colorectal gastric hepatocellular pcr-sscp capillary

• CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

  PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups

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  Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)

  genomic radiolabelled tig-er u2os sscp protein-protein retroviral

• INI1 mutations in meningiomas at a potential hotspot in exon 9.

  PMID 11161377 · PMC2363707 · British journal of cancer · 2001 · 6 claims · 5 setups

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  A recurrent somatic INI1 mutation (G1130A, Arg377His) occurs at a hotspot in exon 9 in a subset of meningiomas.

  meningioma re-extracted sscp direct pcr

• Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.

  PMID 19122847 · PMC2585750 · Circulation. Arrhythmia and electrophysiology · 2008 · 7 claims · 5 setups

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  A missense R99H mutation in KCNE3 was identified in a Brugada Syndrome proband and cosegregates with the phenotype in the family (4/4 phenotype-positive, 0/3 phenotype-negative members carried it)

  genomic cho-k1 left ventricular sscp whole-cell co-immunoprecipitation

• Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

  PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups

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  BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls

  genomic clinical pcr-sscp restriction kaplan-meier