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).

• Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

  PMID 16597330 · PMC1456953 · BMC medical genetics · 2006 · 8 claims · 5 setups

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  Three novel RP1 truncating mutations (Gln686Ter, Lys705fsX712, Lys722fsX737) cause adRP

  genomic adrp denaturing direct restriction

• Proteomic analysis identifies MMP-9, DJ-1 and A1BG as overexpressed proteins in pancreatic juice from pancreatic ductal adenocarcinoma patients.

  PMID 18706098 · PMC2528014 · BMC cancer · 2008 · 7 claims · 6 setups

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  MMP-9, DJ-1 and A1BG are overexpressed in pancreatic juice and tissue from PDAC patients compared with cancer-free/normal controls

  pooled individual trypsin-digested pancreatic two-dimensional difference maldi-tof-ms

• Comparative analysis of the tear protein profile in mycotic keratitis patients.

  PMID 18385783 · PMC2268856 · Molecular vision · 2008 · 8 claims · 5 setups

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  A glutaredoxin-related protein is expressed only in the tears of fungal keratitis patients and is absent in control tears.

  pooled in-gel peptide 2de two-dimensional maldi-tof post

• Mutation analysis of the AATF gene in breast cancer families.

  PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups

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  No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk

  genomic showing aatf case conformation direct pathogenicity

• Angiotensin-converting enzyme gene insertion/deletion polymorphism in migraine patients.

  PMID 18366776 · PMC2311324 · BMC neurology · 2008 · 6 claims · 3 setups

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  ACE I/D genotype and allele distributions do not differ significantly between migraine patients and controls

  genomic migraine pcr clinical

• TP53 intron 6 polymorphism and the risk of ovarian and breast cancer.

  PMID 9484829 · PMC2149940 · British journal of cancer · 1998 · 5 claims · 2 setups

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  The N' allele (G-to-A variant) is significantly more prevalent in ovarian cancer patients than in controls (P=0.01)

  peripheral genotype pcr chi-square

• Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

  PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups

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  CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.

  amish unrelated same overall microsatellite combinatorial permutation

• Proteomics as a method for early detection of cancer: a review of proteomics, exhaled breath condensate, and lung cancer screening.

  PMID 18095050 · PMC2150625 · Journal of general internal medicine · 2008 · 8 claims · 7 setups

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  Protein expression is closely aligned with cellular activity, unlike genomic changes which may have no functional significance

  serum resected plasma lower microarray two-dimensional proteomic

• Proteomic-based identification of haptoglobin-1 precursor as a novel circulating biomarker of ovarian cancer.

  PMID 15199385 · PMC2364749 · British journal of cancer · 2004 · 7 claims · 7 setups

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  Six serum protein spots (~40 kDa, pI 5.9–6.6) significantly overexpressed in grade 1, 2 and 3 ovarian cancer patients were identified by MALDI-TOFMS and n-ESIQ(q)TOFMS as isoforms of haptoglobin-1 precursor (HAP1)

  serum tryptic 2de-separated paraffin-embedded two-dimensional affi-gel maldi-tofms

• Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients: effect of ecNOS polymorphism on left ventricular hypertrophy.

  PMID 16923191 · PMC1559722 · Cardiovascular ultrasound · 2006 · 7 claims · 4 setups

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  ecNOS4a/b gene polymorphism is not associated with hypertension in Turkish patients

  genomic hypertensive clinical pcr m-mode pulsed

• Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

  PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

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  Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

  peripheral genomic ebv-transformed conformation pira-pcr rt-pcr

• Biomarker discovery in neurodegenerative diseases: a proteomic approach.

  PMID 18938247 · PMC2939006 · Neurobiology of disease · 2009 · 6 claims · 8 setups

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  Proteomic profiling of CSF and plasma can identify candidate protein biomarkers that distinguish AD patients from controls with high sensitivity and specificity

  csf plasma brain 2-dge lc-ms seldi-tof-ms

• Proteomic analysis of aqueous humor from patients with myopia.

  PMID 18334949 · PMC2268849 · Molecular vision · 2008 · 7 claims · 6 setups

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  Total protein concentration in AH is significantly greater in high myopia patients than in non-myopic controls

  aqueous gels silver-stained trypsin-digested bradford two-dimensional silver

• The role of proteomics in depression research.

  PMID 19997739 · PMC2940035 · European archives of psychiatry and clinical neuroscience · 2010 · 8 claims · 8 setups

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  Proteomics offers a complementary, functional-endpoint approach that can elucidate MDD pathophysiological mechanisms and biomarkers beyond transcriptomic/targeted studies

  postmortem schizophrenia frontal hypothalamus gel shotgun proteome

• Characterization of detergent-insoluble proteins in ALS indicates a causal link between nitrative stress and aggregation in pathogenesis.

  PMID 19956584 · PMC2780298 · PloS one · 2009 · 8 claims · 8 setups

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  The Triton X-100-insoluble fraction (TIF) from spinal cord of G93A SOD1 mice is enriched in specific proteins (cytoskeletal, chaperone, mitochondrial, metabolic, signaling) compared to WT mice, already at a preclinical stage.

  spinal tif lumbar ventral gel maldi-tof western

• 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

• The process chain for peptidomic biomarker discovery.

  PMID 16410650 · PMC3850862 · Disease markers · 2006 · 8 claims · 3 setups

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  Peptidomics (comprehensive analysis of peptides and small proteins <20 kDa) fills a methodological gap left by standard proteomics, which mainly addresses proteins in the ~10-200 kDa range.

  general body patients 2d-gel peptidomics peptidomic

• Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.

  PMID 12107845 · PMC2376109 · British journal of cancer · 2002 · 8 claims · 1 setups

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  The SP-B intron 4 gene variant is significantly more frequent in squamous cell lung carcinoma (SCC) patients (25.0%) than in matched controls, OR=3.2, P=0.016

  peripheral allele-specific

• Mutation analysis of the ATR gene in breast and ovarian cancer families.

  PMID 15987455 · PMC1175065 · Breast cancer research : BCR · 2005 · 8 claims · 5 setups

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  ATR mediates the DNA damage response by phosphorylating tumor suppressors such as p53, BRCA1 and CHK1, making it a plausible candidate breast/ovarian cancer susceptibility gene

  index atr variant mutation direct variant

• The use of proteomics in biomarker discovery in neurodegenerative diseases.

  PMID 15920295 · PMC3850612 · Disease markers · 2005 · 8 claims · 8 setups

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  A combination of low CSF-β-amyloid(1-42) with high CSF-tau and high CSF-phospho-tau is associated with an AD diagnosis

  csf serum two-dimensional seldi liquid-phase