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).

• A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

  PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups

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  The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.

  microdissected resected non-tumor liver pcr-rflp immunohistochemistry western

• Genomic activation of the EGFR and HER2-neu genes in a significant proportion of invasive epithelial ovarian cancers.

  PMID 18182111 · PMC2266762 · BMC cancer · 2008 · 8 claims · 4 setups

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  No somatic mutations were found in the entire tyrosine kinase domain (exons 18-24) of EGFR or HER2-neu in 68 tissue samples from 52 ovarian cancer patients.

  invasive ovarian lung dgge immunohistochemistry fluorescence

• Expression of p73, a novel protein related to the p53 tumour suppressor p53, and apoptosis in cholangiocellular carcinoma of the liver.

  PMID 10362118 · PMC2363034 · British journal of cancer · 1999 · 7 claims · 6 setups

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  p73 protein is expressed (nuclear immunostaining) in a substantial subset of cholangiocellular carcinomas

  cholangiocellular ccc lysates immunohistochemistry direct western

• 'Classical' but not 'other' mutations of EGFR kinase domain are associated with clinical outcome in gefitinib-treated patients with non-small cell lung cancer.

  PMID 18000506 · PMC2360265 · British journal of cancer · 2007 · 8 claims · 4 setups

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  'Classical' EGFR mutations (exon 18 G719X, exon 19 DEL19, exon 21 L858R) are associated with better clinical outcome (disease control) with gefitinib

  microdissected genomic ffpe advanced direct nested immunohistochemistry

• Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

  PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups

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  All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix

  dermal skeletal fibroblast confluent rt-pcr immunohistochemistry biosynthetic

• Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.

  PMID 18541010 · PMC2435117 · Molecular cancer · 2008 · 8 claims · 5 setups

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  The CTNNB1 stabilizing mutation S37A was detected in 6 of 104 (5.8%) sporadic parathyroid adenomas by direct DNA sequencing.

  sporadic ctnnb1 paired frozen direct restriction snp

• The detection of K-ras mutations in colorectal cancer using the amplification-refractory mutation system.

  PMID 9579832 · PMC2150152 · British journal of cancer · 1998 · 5 claims · 6 setups

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  ARMS reliably detects K-ras codon 12/13 mutations in archival CRC DNA samples even when mutant sequence is under-represented relative to wild-type

  archival tumour tumour-derived haematoxylin arms direct pcr

• Mitotic checkpoint protein hsMAD2 as a marker predicting liver metastasis of human gastric cancers.

  PMID 11572763 · PMC5926839 · Japanese journal of cancer research : Gann · 2001 · 8 claims · 4 setups

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  No mutations were found in the coding sequence of the hsMAD2 gene in 32 primary gastric cancers

  gastric cancer formalin-fixed near-diploid pcr semi-quantitative immunohistochemistry

• Pancreatic tumours: molecular pathways implicated in ductal cancer are involved in ampullary but not in exocrine nonductal or endocrine tumorigenesis.

  PMID 11161385 · PMC2363700 · British journal of cancer · 2001 · 8 claims · 6 setups

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  PDC shows frequent alterations of K-ras, p53, p16 and DPC4, confirming these as the core molecular fingerprint of ductal cancer

  pancreatic same tumor pet sscp methylation-specific microsatellite

• Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study.

  PMID 16356174 · PMC1334229 · BMC cancer · 2005 · 8 claims · 5 setups

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  CTNNB1 mutations at phosphorylation sites are rare and of minor importance in sporadic colorectal cancer

  archival colorectal formalin-fixed tumour mutation immunohistochemistry microsatellite

• 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

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

  archival subset flanking paraffin-embedded pcr-sscp feasibility histopathological

• In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

  PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups

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  A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).

  genomic muscle skeletal direct topo genescan

• Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

  PMID 19808356 · PMC2765062 · Circulation. Heart failure · 2009 · 8 claims · 4 setups

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  Myofilament protein levels (MYBPC3 and MYH7) are increased, not decreased, in HCM patients carrying a mutation in either gene compared to healthy heart tissue

  genomic lysate formalin-fixed myectomy mutational western immunohistochemistry

• Heterogeneity of p53 mutational status in esophageal squamous cell carcinoma.

  PMID 9617346 · PMC5921814 · Japanese journal of cancer research : Gann · 1998 · 6 claims · 4 setups

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  Three of 10 esophageal squamous cell carcinomas showed heterogeneous p53 mutational status, but only within the pre-invasive (carcinoma in situ) area.

  esophageal paraffin-embedded genomic biotinylated immunohistochemistry microdissection nested

• Role of p16/MTS1, cyclin D1 and RB in primary oral cancer and oral cancer cell lines.

  PMID 10389982 · PMC2363027 · British journal of cancer · 1999 · 7 claims · 5 setups

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  p16/MTS1 mutations and loss of expression are very common in OSCC cell lines and less frequent in primary OSCC tumours

  oscc same frozen pcr western extraction

• TP53 mutations, amplification of P63 and expression of cell cycle proteins in squamous cell carcinoma of the oesophagus from a low incidence area in Western Europe.

  PMID 11531258 · PMC2364124 · British journal of cancer · 2001 · 8 claims · 5 setups

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  TP53 mutations were detected in 36% (12/33) of SCCE from the low-incidence Lyon area, lower than the 56-80% reported in high-incidence areas

  microdissected deparaffinized oesophageal genomic ttge immunohistochemistry western

• BRAF V600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas.

  PMID 17453004 · PMC2359941 · British journal of cancer · 2007 · 8 claims · 4 setups

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  BRAF V600E mutation was found in 4 of 20 (20%) anaplastic thyroid carcinomas overall

  anaplastic accompanying papillary paraffin-embedded pcr histology

• Abnormalities of the p53 MDM2 and DCC genes in human leiomyosarcomas.

  PMID 8198970 · PMC1969417 · British journal of cancer · 1994 · 6 claims · 8 setups

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  A significant minority of leiomyosarcomas harbor p53 gene point mutations or deletions

  leiomyosarcomas frozen leiomyosarcoma sarcoma sscp direct immunohistochemistry

• MDM2 overexpression with alteration of the p53 protein and gene status in oral carcinogenesis.

  PMID 10835493 · PMC5926374 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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  MDM2 and p53 protein expression significantly increase in accordance with histological progression from normal mucosa to dysplasia to SCC.

  oral paraffin-embedded rt-pcr-sscp direct restriction

• K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.

  PMID 9514049 · PMC2149957 · British journal of cancer · 1998 · 6 claims · 4 setups

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  K-ras codon 12 mutation is present in all carcinoma lesions examined with no intratumour heterogeneity, consistent with an early carcinogenic event

  resected pcr-rflp-positive lung pcr-rflp direct selective