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).

• Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

  PMID 18509552 · PMC2391085 · Molecular vision · 2008 · 7 claims · 7 setups

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  Point mutations and small insertions/deletions in TOPORS cause approximately 1% of adRP

  genomic unrelated additional patients fluorescent multiplex sequencing

• Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

  PMID 16887033 · PMC1559599 · BMC medical genetics · 2006 · 6 claims · 5 setups

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  A multiplexed suspension bead array (Luminex) assay was developed to genotype 8 Ashkenazi-prevalent disease alleles including GBA c.1448T>C

  genomic de-identified multiplex sanger clinical

• HIT: a versatile proteomics platform for multianalyte phenotyping of cytokines, intracellular proteins and surface molecules.

  PMID 18849997 · PMC3334282 · Nature medicine · 2008 · 8 claims · 8 setups

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  HIT uses oligonucleotide-tagged (Fab- or mSA-conjugated) antibodies, T7 polymerase amplification, and DNA microarray hybridization to indirectly measure multiple analytes in a fluid-phase multiplex format

  hsp70-coated hsp70 secreted jurkat fluid-phase multiplex hit

• Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

  PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups

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  BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK

  genomic pedigrees first-degree study pcr pedigree-based age

• PRKCA and multiple sclerosis: association in two independent populations.

  PMID 16596167 · PMC1420678 · PLoS genetics · 2006 · 8 claims · 8 setups

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  PRKCA (protein kinase C alpha) on 17q24 is associated with MS in Finnish families

  finnish canadian unrelated blood snp dense multipoint

• Proteomics approaches to identify tumor antigen directed autoantibodies as cancer biomarkers.

  PMID 15502247 · PMC3839398 · Disease markers · 2004 · 8 claims · 8 setups

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  Proteomics approaches (2D Western blot, protein microarray, multiplex ELISA) can identify tumor antigen-directed autoantibodies as candidate cancer biomarkers

  lung pancreatic hepatocellular renal gel microarray multiplex

• No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

  PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups

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  SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours

  germline genomic identified individuals sequencing pcr mlpa

• Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

  PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups

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  40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD

  genomic pomt2 population genome-wide pcr multiplex

• Analysis of X chromosome inactivation in autism spectrum disorders.

  PMID 18361425 · PMC4867005 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 6 claims · 5 setups

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  No significant excess of skewed XCI was found in mothers of children with ASD or in affected girls compared to controls

  genomic multiplex mecp2 four chromosome non-parametric mutation

• When does a protein become an allergen? Searching for a dynamic definition based on most advanced technology tools.

  PMID 18477011 · PMC2607534 · Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2008 · 7 claims · 8 setups

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  IgE-binding is not an intrinsic property of a protein but the result of an interaction between two molecules (antigen and IgE), so a molecule can only be classified relative to demonstrated IgE binding.

  subjects allergic serum allergenic double-blind skin serum