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).

• Point mutations in GLI3 lead to misregulation of its subcellular localization.

  PMID 19829694 · PMC2758996 · PloS one · 2009 · 6 claims · 8 setups

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  The MID1-α4-PP2A complex regulates the subcellular localization and transcriptional activity of GLI3.

  hela immunofluorescence real-time luciferase

• Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.

  PMID 19826477 · PMC2757721 · PloS one · 2009 · 8 claims · 8 setups

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  Homozygous mutations of oncogenes are frequent (20%) across 833 cancer cell lines of 12 tumor types in the Sanger database

  tumors cancer tumor lung direct database quantitative

• Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

  PMID 19775295 · PMC2783282 · British journal of haematology · 2009 · 8 claims · 4 setups

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  ELANE mutations were detected in 90 of 162 SCN patients (55.6%), making it the most commonly mutated gene in SCN.

  peripheral whole-genome-amplified gfi1 sanger high-throughput sift

• Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

  PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups

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  GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss

  peripheral patients mtdna slc26a4 pcr pcr-based sanger

• Ethnic differences and functional analysis of MET mutations in lung cancer.

  PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups

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  MET mutations identified in lung tumors are predominantly germline rather than somatic

  tumor established recombinant cos-7 pcr elisa-based apoptosis

• Hierarchical modeling of activation mechanisms in the ABL and EGFR kinase domains: thermodynamic and mechanistic catalysts of kinase activation by cancer mutations.

  PMID 19714203 · PMC2722018 · PLoS computational biology · 2009 · 8 claims · 8 setups

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  Cancer mutations in ABL and EGFR activate kinases via a common multi-stage mechanism involving hydrophobic spine assembly, formation of a Src-like intermediate structure, and cooperative breakage/formation of characteristic salt bridges

  abl egfr abl-sh2-sh3 homology molecular stability

• New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

  PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

  genomic pcr polycystin-1 czech denaturing sanger family

• Recurring mutations found by sequencing an acute myeloid leukemia genome.

  PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups

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  Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.

  aml-m1 tumor bone additional whole-genome snp gene-expression

• Infrequent involvement of p53 gene mutations in the tumourigenesis of Japanese prostate cancer.

  PMID 7691145 · PMC1968625 · British journal of cancer · 1993 · 6 claims · 3 setups

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  p53 gene mutations are infrequent in the tumorigenesis of primary Japanese prostate cancer

  prostate pcr-sscp sequencing

• 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

• Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

  PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups

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  Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC

  formalin-fixed corresponding sporadic pcr clinical

• Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

  PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups

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  No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed

  sporadic tumour tumour-derived pcr loss semi-quantitative

• Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms' tumor.

  PMID 10772697 · PMC11166235 · Sao Paulo medical journal = Revista paulista de medicina · 2000 · 7 claims · 3 setups

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  Point mutations of the p53 gene (exons 5-9) were not detected in any of the 10 Wilms' tumor samples studied

  extracted pcr-amplified pcr pcr pcr-sscp automated

• Correlation of mutation and immunohistochemistry of p53 in hepatocellular carcinomas in Korean people.

  PMID 12483005 · PMC3054961 · Journal of Korean medical science · 2002 · 6 claims · 3 setups

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  5% immunoreactive tumor cells is a reliable IHC threshold to detect p53 mutations in HCC

  hcc genomic pcr immunohistochemistry pcr-sscp sequencing

• Somatic mutations of KIT in familial testicular germ cell tumours.

  PMID 15150569 · PMC2410291 · British journal of cancer · 2004 · 6 claims · 3 setups

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  No germline KIT mutations were found in constitutional DNA from 240 familial TGCT pedigrees

  blood ffpe familial csge direct contingency

• Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

  PMID 16684822 · PMC1865080 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 3 setups

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  DAX1 mutations are a relatively frequent cause of adrenal failure in 46,XY phenotypic boys with adrenal hypoplasia

  genomic direct targeted

• Somatic mutations in mitochondria: the chicken or the egg?

  PMID 16207343 · PMC1257449 · Arthritis research & therapy · 2005 · 6 claims · 6 setups

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  Patients with RA have a higher incidence of somatic mtDNA mutations (in MT-ND1 transcripts) in synoviocytes and synovial tissue compared with OA patients

  mutated synovial sequencing mhc expression

• Mutation rate at commonly used forensic STR loci: paternity testing experience.

  PMID 15665391 · PMC3839336 · Disease markers · 2004 · 8 claims · 2 setups

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  Microsatellite (STR) loci mutate at a higher rate than bulk genomic DNA, causing interpretation problems in paternity testing.

  parent edta str extraction

• Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

  PMID 14735200 · PMC2409576 · British journal of cancer · 2004 · 8 claims · 2 setups

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  Seven germline INK4a-ARF changes (five novel) were found in 7 of 89 patients (8%) suspected of genetic predisposition to melanoma.

  genomic pcr real-time

• Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer.

  PMID 18842121 · PMC2571110 · BMC cancer · 2008 · 8 claims · 2 setups

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  Somatic mutations in the mtDNA D-loop are found in 57% of ovarian cancer samples, mostly C-tract length changes and substitutions

  ovarian sanger real-time