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).

• BCoR-L1 variation and breast cancer.

  PMID 17697391 · PMC2206730 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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  BCoR-L1 expression does not play a large role in predisposition to familial breast cancer

  genomic aberrant lymphoblastoid mouse-human dhplc sanger qrt-pcr

• K-RAS and P53 mutations in association with COX-2 and hTERT expression and clinico-pathological status of NSCLC patients.

  PMID 18957720 · PMC3827803 · Disease markers · 2008 · 8 claims · 6 setups

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  P53 mutations were identified in 34.4% of NSCLC tumours, most frequently in SCC (55.6%)

  nsclc dhplc quantitative clinical

• WNT10B mutations in human obesity.

  PMID 16477437 · PMC4304000 · Diabetologia · 2006 · 8 claims · 8 setups

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  The WNT10B C256Y missense mutation abrogates the protein's ability to activate canonical WNT signalling and block adipogenesis

  genomic 3t3-l1 subject proband dhplc top-flash western

• Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

  PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups

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  Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes

  peripheral saccharomyces yeast ins-1e dhplc proton western

• Increased constraints on MC4R during primate and human evolution.

  PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups

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  There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.

  hgdp-ceph germans central additional dhplc direct coding

• Mutation of ERBB2 provides a novel alternative mechanism for the ubiquitous activation of RAS-MAPK in ovarian serous low malignant potential tumors.

  PMID 19010816 · PMC6953412 · Molecular cancer research : MCR · 2008 · 8 claims · 8 setups

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  Activating RAS-MAPK pathway mutations are present in >70% of serous LMP tumors versus ~12.5% of serous ovarian carcinomas

  serous same lmp braf-mutant gene hotspot erbb2

• Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

  PMID 18362173 · PMC2292215 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups

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  Somatic JAK1 mutations occur in ALL and are more prevalent among adult T-cell precursor ALL (T-ALL) than B-ALL

  genomic jak1-deficient u4c bw5147 dhplc stat1 cytokine-independent

• Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.

  PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups

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  Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts

  european african individuals nondiabetic snp variant direct

• 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

• Tissue microarrays characterise the clinical significance of a VEGF-A protein expression signature in gastrointestinal stromal tumours.

  PMID 17299397 · PMC2360083 · British journal of cancer · 2007 · 8 claims · 5 setups

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  A combined VEGF-A ligand and flt-1 receptor protein expression signature discriminates malignant from benign GIST

  archival tma genomic pcr immunohistochemistry unsupervised pcr-dhplc

• A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

  PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups

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  A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.

  genomic patients high recombinant pcr full-field paired-flash

• 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

• CNGA3 mutations in two United Arab Emirates families with achromatopsia.

  PMID 18636117 · PMC2464613 · Molecular vision · 2008 · 8 claims · 5 setups

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  Achromatopsia in two UAE families is caused by mutations in CNGA3: Arg283Trp and Gly397Val

  achromatopsia genomic hek293 clinical pcr segregation

• Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.

  PMID 19737971 · PMC2994259 · Molecular cancer research : MCR · 2009 · 8 claims · 8 setups

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  CLSPN is a mediator protein essential for the ATR- and CHK1-dependent checkpoint response to replicative stress or single-stranded DNA

  ebv-immortalized sporadic same caucasian genomic denaturing genotyping

• Introduction of in vitro transcribed ENO1 mRNA into neuroblastoma cells induces cell death.

  PMID 16359544 · PMC1327688 · BMC cancer · 2005 · 8 claims · 6 setups

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  ENO1 has tumour suppressor activity

  sk-n-as neuroblastoma genomic growth tunel real-time

• 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

• The mitochondrial genome, a growing interest inside an organelle.

  PMID 18488415 · PMC2526360 · International journal of nanomedicine · 2008 · 8 claims · 8 setups

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  mtDNA mutations are causally linked to a wide range of mitochondrial diseases, aging, and chronic degenerative diseases

  post-mitotic mtdna homozygous high-fat southern rflp-pcr dhplc

• The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer.

  PMID 12381271 · PMC134458 · BMC genetics · 2002 · 7 claims · 8 setups

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  UNC93A maps within the minimal region of allele loss on 6q27 between D6S264 and D6S149, centromeric to D6S149

  panel 293-t malignant same rt-pcr northern fluorescence

• Prevalence of the congenital long-QT syndrome.

  PMID 19841298 · PMC2784143 · Circulation · 2009 · 7 claims · 6 setups

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  The prevalence of LQTS among Caucasian apparently healthy live-births is at least 1:2,534 (95% CI 1:1,583-1:4,350)

  neonates family heterologous 12-lead targeted transthoracic