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).

• The human L-threonine 3-dehydrogenase gene is an expressed pseudogene.

  PMID 12361482 · PMC131051 · BMC genetics · 2002 · 8 claims · 7 setups

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  The human TDH gene is located at chromosome 8p23-22, spans 10 kb, and has 8 exons that would be expected to encode a 369-residue ORF.

  genomic predicted cdna tissues genomic sequence pcr

• Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.

  PMID 18775783 · PMC2729512 · Molecular and cellular neurosciences · 2008 · 8 claims · 8 setups

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  Six 22q11 genes (Mrpl40, Prodh, Slc25a1, Txnrd2, T10, Zdhhc8) encode proteins that localize to mitochondria, including neuronal/synaptic mitochondria.

  orthologues nih-3t3 3t3 mefs bioinformatic egfp co-transfection

• Comparison between short-term stress and long-term adaptive responses reveal common paths to molecular adaptation.

  PMID 35243257 · PMC8873613 · iScience · 2022 · 8 claims · 7 setups

  Has reproduction · 59

  Short-term stress and long-term adaptations share common metabolic pathways

  great embryonic gef mapk1 bulk gene transcription

• Enriched domain detector: a program for detection of wide genomic enrichment domains robust against local variations.

  PMID 24782521 · PMC4066758 · Nucleic acids research · 2014 · 8 claims · 5 setups

  Has reproduction · 79

  EDD is a new algorithm that detects broad (megabase-size) enrichment domains from ChIP-seq data of widely distributed chromatin proteins such as A- and B-type lamins.

  normal dermal analysis set chip-seq chip-qpcr rna-seq

• A consensus approach to vertebrate de novo transcriptome assembly from RNA-seq data: assembly of the duck (Anas platyrhynchos) transcriptome.

  PMID 25009556 · PMC4070175 · Frontiers in genetics · 2014 · 8 claims · 8 setups

  Has reproduction · 67

  Multiple k-mer (MK) assemblies are more complete than single k-mer (SK) assemblies, showing higher reads-mapped-back-to-transcripts (RMBT) and higher CEGMA complete-gene percentages for all three tools.

  anas duck million random illumina read novo

• Pathogenesis of vestibular schwannoma in ring chromosome 22.

  PMID 19772601 · PMC2758865 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  Tumours in ring chromosome 22 patients arise from the combination of loss of the ring chromosome (first hit) and a pathogenic somatic NF2 mutation on the remaining chromosome 22 (second hit)

  peripheral schwann skin-biopsy vestibular karyotyping fish array

• Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.

  PMID 20026586 · PMC2847243 · Nucleic acids research · 2010 · 8 claims · 5 setups

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  Telomere fusion in human cells is characterized by extensive sub-telomeric deletion of at least one telomere, extending up to 5.6-6.1 kb

  hek293 mrc5 pcr single single-molecule southern direct

• Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.

  PMID 41685349 · PMC12891912 · NAR genomics and bioinformatics · 2026 · 7 claims · 7 setups

  Has reproduction

  An integrated RNA-guided variant interpretation workflow combining OUTRIDER, FRASER, MOLGENIS VIP, and Borzoi enhances clinical variant interpretation and reclassification of VUS in rare disease cases.

  udn blood skin snvs whole-genome bulk splice-altering

• Mutation in mitochondrial complex I ND6 subunit is associated with defective response to hypoxia in human glioma cells.

  PMID 15248896 · PMC481082 · Molecular cancer · 2004 · 8 claims · 8 setups

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  An unreported T14634C mutation in the mtDNA-encoded ND6 subunit of Complex I is present in the hypoxia-sensitive glioma cell line M010b but not in hypoxia-tolerant lines.

  gbm m010b m006x mtdna quantitative mitochondrial

• Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).

  PMID 16412238 · PMC1368963 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  A novel PPARG nonsense mutation, Y355X, was identified in a mother and daughter with FPLD3-consistent phenotypes and was absent from unaffected relatives and 260 healthy controls

  subjects nih3t3 subject healthy sequencing luciferase western

• CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

  PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups

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  Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)

  genomic radiolabelled tig-er u2os sscp protein-protein retroviral

• Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

  PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups

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  Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family

  hek immunoprecipitated tsc2 peripheral coimmunoprecipitation rheb s6k-t389

• Characterization of a natural mutator variant of human DNA polymerase lambda which promotes chromosomal instability by compromising NHEJ.

  PMID 19806195 · PMC2751832 · PloS one · 2009 · 8 claims · 8 setups

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  The W438 hPolλ variant has reduced base substitution fidelity in vitro compared to wild-type R438

  normal recombinant hpolλ short pcr-sscp ber m13mp2

• Triplex targeted genomic crosslinks enter separable deletion and base substitution pathways.

  PMID 16186129 · PMC1236719 · Nucleic acids research · 2005 · 8 claims · 4 setups

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  Targeted pso-TFO genomic crosslinks resolve via genetically separable pathways leading to either base substitutions or deletions.

  cho same uv41 6-tg small sequencing

• Mosaicism in von Hippel-Lindau disease: an event important to recognize.

  PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups

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  The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.

  peripheral father's pcr proband dhplc sanger semiquantitative

• TccP2-mediated subversion of actin dynamics by EPEC 2 - a distinct evolutionary lineage of enteropathogenic Escherichia coli.

  PMID 17526832 · PMC2884950 · Microbiology (Reading, England) · 2007 · 7 claims · 8 setups

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  tccP2 is present in 26 of 27 (96.2%) EPEC 2 lineage strains and absent from all 34 EPEC 1 strains tested

  clinical pcr-negative representative whole-cell conventional colony locus-specific

• Tubulin proteomics: towards breaking the code.

  PMID 18840397 · PMC4039029 · Analytical biochemistry · 2009 · 8 claims · 8 setups

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  Tubulin isotype and posttranslational-modification diversity constitutes a 'tubulin code' that is read by microtubule-associated proteins and translates into specific in vivo functions

  bovine mda-mb-231 cancer a549 maldi-tof tandem sds-page

• Phenotypic screening, transcriptional profiling, and comparative genomic analysis of an invasive and non-invasive strain of Candida albicans.

  PMID 18950481 · PMC2579918 · BMC microbiology · 2008 · 8 claims · 8 setups

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  Strain SC5314 is invasive and virulent whereas strain ATCC10231 is non-invasive and strongly attenuated in virulence

  albicans hep-2 rhe blood phenotypic growth adhesion