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).

• Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

  PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.

  genomic hek293 m17 south sscp dual-luciferase pcr-rflp

• A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

  PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups

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  A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred

  genomic tsa201 unspecified proband sequence modified full-length

• A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.

  PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups

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  A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.

  genomic proband pcr pcr-rflp bone

• Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis.

  PMID 17587445 · PMC1913537 · BMC genetics · 2007 · 6 claims · 4 setups

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  CCR7 gene variants occur at extremely low frequency (allelic frequencies ≤5%) in the German population

  genomic hut78 t-cells direct pcr dual

• Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments.

  PMID 15860768 · PMC1087789 · Nucleic acids research · 2005 · 8 claims · 4 setups

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  Selector oligonucleotides can circularize many distinct genomic restriction fragments in one reaction, enabling parallel amplification with a single universal primer pair instead of multiple target-specific primer pairs

  genomic 7776-clone selector-based cdna restriction

• Optimal Dual RNA-Seq Mapping for Accurate Pathogen Detection in Complex Eukaryotic Hosts.

  PMID 39959292 · PMC11825298 · Bio-protocol · 2025 · 7 claims · 6 setups

  Has reproduction · 90

  Mapping adapter-trimmed reads first to the pathogen genome recovers more pathogen reads than the traditional host-first mapping approach.

  monocyte-derived raw same trimmed dual fastqc adapter

• 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

• Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.

  PMID 17557180 · PMC1998882 · Mammalian genome : official journal of the International Mammalian Genome Society · 2007 · 7 claims · 7 setups

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  A BAC transgene containing Prop1 completely rescues the Prop1 mutant (dwarf) phenotype, showing all necessary regulatory elements lie within the BAC

  pig lemur cv-1 b-prop1 bac comparative transient

• An optimized procedure for the design and evaluation of Ecotilling assays.

  PMID 18973671 · PMC2586031 · BMC genomics · 2008 · 8 claims · 7 setups

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  An optimized procedure integrating Vector NTI, Ensembl, Genomatix Suite, GelBuddy, and sequencing/functional-prediction tools streamlines the design, evaluation and interpretation of human Ecotilling assays

  genomic gene pcr cdna ecotilling sequence sanger

• Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

  PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups

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  c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one

  peripheral cos-7 direct confocal co-localization

• Optical mapping discerns genome wide DNA methylation profiles.

  PMID 18667073 · PMC2516518 · BMC molecular biology · 2008 · 6 claims · 3 setups

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  Methylated restriction sites can be identified in optical maps as cleavage sites that are absent relative to the in silico (sequence-based) restriction map, since most restriction enzymes fail to cut methylated cognate sequences.

  escherichia embryonic optical

• AUGUSTUS at EGASP: using EST, protein and genomic alignments for improved gene prediction in the human genome.

  PMID 16925833 · PMC1810548 · Genome biology · 2006 · 8 claims · 5 setups

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  AUGUSTUS predicted significantly more genes correctly than any other ab initio program in EGASP

  genome human-mouse genes initio comparative extrinsic

• A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

  PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

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  A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

  blood-derived patient-derived serum genomic direct rt-pcr gelatin

• Whole genome comparative studies between chicken and turkey and their implications for avian genome evolution.

  PMID 18410676 · PMC2375447 · BMC genomics · 2008 · 8 claims · 7 setups

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  Chicken and turkey genomes differ by only two inter-chromosomal rearrangements (GGA2 orthologous to MGA3+6; GGA4 orthologous to MGA4+9), both involving centromeres.

  chicken turkey broiler chromosome single fish

• In vivo prime editing rescues alternating hemiplegia of childhood in mice.

  PMID 40695277 · PMC12702498 · Cell · 2025 · 8 claims · 8 setups

  Has reproduction · 84

  PE and BE strategies efficiently correct five prevalent ATP1A3 mutations (D801N, E815K, L839P, G947R-A, G947R-C) in HEK293T cells and AHC patient-derived iPSCs, with 43%-90% correction in iPSCs.

  hek293t ahc n2a b6c3.atp1a3 prime circle-seq rhampseq

• Deubiquitination enzyme USP35 negatively regulates MAVS signaling to inhibit anti-tumor immunity.

  PMID 40016186 · PMC11868397 · Cell death & disease · 2025 · 8 claims · 8 setups

  Has reproduction · 81

  USP35 interacts with MAVS and removes its K63-linked polyubiquitin chains, inhibiting viral-induced MAVS-TBK1-IRF3 activation and downstream inflammatory gene expression

  tumor melanoma tcga-skcm hek293t bioinformatics geo kaplan-meier

• Use of suppression subtractive hybridisation to extend our knowledge of genome diversity in Campylobacter jejuni.

  PMID 17470265 · PMC1868759 · BMC genomics · 2007 · 8 claims · 6 setups

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  There is a clear correlation between MLST clonal complex and the distribution of metabolic genes involved in alternative terminal electron acceptor use.

  jejuni ssh panel suppression blastx dot-blot

• Analyses and comparison of accuracy of different genotype imputation methods.

  PMID 18958166 · PMC2569208 · PloS one · 2008 · 8 claims · 3 setups

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  Stronger LD produces higher imputation accuracy rates for all five methods

  simulated real linux genotype computational

• An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

  PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups

  Has reproduction

  HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition

  cos-7 transiently patients parental ras co-immunoprecipitation immunoblotting

• Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.

  PMID 18992264 · PMC2682550 · Mutation research · 2009 · 8 claims · 8 setups

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  A combined functional assay, bioinformatics prediction, and structural modeling approach can classify BRCA1 variants of uncertain significance

  saccharomyces cerevisiae hek-293t yeast yeast β-galactosidase dual