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).

• Mutational analysis of TARDBP in neurodegenerative diseases.

  PMID 20031275 · PMC2889148 · Neurobiology of aging · 2011 · 8 claims · 4 setups

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  TARDBP mutations are not a significant cause of AD or PD

  als tdp-43 pcr pathogenicity

• Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

  PMID 20009079 · PMC2810855 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 5 setups

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  Six rare SNTA1 missense mutations (G54R, P56S, T262P, S287R, T372M, G460S) were identified in 8 of 292 (2.7%) SIDS cases, absent from 800 reference alleles

  sids hek293 pcr whole-cell

• 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

• Predicting the pathogenicity of missense variants using features derived from AlphaFold2.

  PMID 37084271 · PMC10203375 · Bioinformatics (Oxford, England) · 2023 · 6 claims · 8 setups

  Has reproduction · 85

  AlphaFold2-derived structural features (solvent accessibility, amino acid network features, physicochemical environment, pLDDT) can be used to train a random forest classifier (AlphScore) that distinguishes proxy-benign from proxy-pathogenic missense variants.

  gnomad alphafold2-predicted alphscore proteins machine secondary physicochemical

• Genetic changes of Wnt pathway genes are common events in metaplastic carcinomas of the breast.

  PMID 18593979 · PMC3060761 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 6 setups

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  Aberrant β-catenin protein expression (nuclear/cytoplasmic accumulation or reduced membrane staining) is present in nearly all metaplastic breast carcinomas, indicating Wnt pathway deregulation.

  metaplastic immunohistochemistry pcr

• A critical reassessment of the role of mitochondria in tumorigenesis.

  PMID 16187796 · PMC1240051 · PLoS medicine · 2005 · 8 claims · 8 setups

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  A significant number of published medical mtDNA cancer studies are based on obviously flawed sequencing results.

  hepatocellular papillary prostate tissues mtdna mutational

• Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics.

  PMID 19655247 · PMC2903621 · Digestive diseases and sciences · 2009 · 8 claims · 8 setups

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  Candidate gene association studies with IBS symptom phenotype (e.g., SLC6A4, GNB3, IL-10) have generally produced inconsistent, unreplicated results.

  ibs ibs-d ibs-c subjects candidate genotyping mutational