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).

• Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

  PMID 19967551 · PMC7370861 · Journal of clinical immunology · 2010 · 8 claims · 8 setups

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  Three unrelated Argentinean HLH patients carry an identical novel homozygous 4-bp deletion (c.581_584delTGCC; p.Leu194ProfsX2) in STX11

  genomic peripheral blood fresh direct snp rt-pcr

• A genome-wide deletion mutant screen identifies pathways affected by nickel sulfate in Saccharomyces cerevisiae.

  PMID 19917080 · PMC2784802 · BMC genomics · 2009 · 8 claims · 4 setups

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  Genome-wide deletion screening identified 149 genes whose deletion causes NiSO4 sensitivity and 119 genes whose deletion confers NiSO4 resistance.

  cerevisiae lists yeast genome-wide functional protein-protein

• 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

• Expanding CEP290 mutational spectrum in ciliopathies.

  PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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  A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.

  peripheral genomic quantitative cdna pcr

• A pre-S gene chip to detect pre-S deletions in hepatitis B virus large surface antigen as a predictive marker for hepatoma risk in chronic hepatitis B virus carriers.

  PMID 19751529 · PMC2755474 · Journal of biomedical science · 2009 · 8 claims · 5 setups

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  Pre-S1 and pre-S2 deletion mutants of the HBV LHBS gene are highly associated with HBV-related HCC

  serum plasmids coli pcr oligonucleotide chip

• Analysis of virulence factors of Helicobacter pylori isolated from a Vietnamese population.

  PMID 19698173 · PMC2739534 · BMC microbiology · 2009 · 8 claims · 5 setups

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  Three distinct deletion patterns (39-bp, 18-bp, no deletion) exist upstream of the cagA EPIYA repeat region (pre-EPIYA region), providing a novel genotyping marker.

  pylori gastric pcr sequence comparative

• A single-nucleotide enhancer mutation overrides chromosomal sex to drive XX male development.

  PMID 41957362 · PMC13066550 · Nature communications · 2026 · 8 claims · 7 setups

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  A 3 bp deletion or a 1 bp insertion in the Enh13 SOX9 binding site causes complete XX female-to-male sex reversal in adult homozygous mice

  c57bl6 6-week-old 6-week e12.5 crispr-cas9 gross immunostaining

• Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

  PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups

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  No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed

  sporadic tumour tumour-derived pcr loss semi-quantitative

• Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

  PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups

  Has reproduction · 75

  Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes

  patients family saccharomyces cho-k1 mutation deletion yeast

• Endothelial Adgrl2 Expression and Alternative Splicing Controls the Cerebrovasculature.

  PMID 41876233 · PMC13108381 · The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026 · 8 claims · 5 setups

  Has reproduction · 75

  Endothelial cell-specific deletion of Adgrl2 impairs cerebrovascular integrity in mice

  wild-type cortex brain single-molecule single-cell immunohistochemistry

• Putting proteins in one place.

  PMID 12790144 · PMC1316915 · Environmental health perspectives · 2003 · 8 claims · 7 setups

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  Rapamycin inhibits TOR, causing the silencing protein Sir3 to detach from chromatin at stress-response genes, triggering a coordinated multigene stress response that halts cancer cell proliferation

  saccharomyces yeast vascular skin chemical chromatin microarray

• MUTACLASH: identifying functional small RNA target sites using crosslinking-induced mutations.

  PMID 41330639 · PMC12810180 · RNA (New York, N.Y.) · 2026 · 8 claims · 6 setups

  Has reproduction · 30

  MUTACLASH, a bioinformatics pipeline for identifying small RNA-mRNA hybrids and locating CIMs within CLASH data, was developed

  elegans clash iclip sequencing

• Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

  PMID 15608400 · PMC2816285 · Journal of Korean medical science · 2004 · 7 claims · 6 setups

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  Developed a reliable quantitative real-time PCR assay using SMN1-specific primers, SYBR Green I dye, and the comparative Ct (ΔΔCt) method, normalized to albumin, to determine SMN1 copy number

  genomic peripheral quantitative multiplex pcr-restriction

• Alteration of the copy number and deletion of mitochondrial DNA in human hepatocellular carcinoma.

  PMID 15150555 · PMC2409531 · British journal of cancer · 2004 · 8 claims · 5 setups

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  mtDNA copy number and the content of mitochondrial respiratory proteins are reduced in HCC tumor tissue compared with corresponding non-tumorous liver.

  hcc competitive quantitative immunoblot

• 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

• Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages.

  PMID 16034026 · PMC1179734 · Nucleic acids research · 2005 · 8 claims · 6 setups

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  L1 insertions are directly responsible for genomic deletions (L1IMDs) confirmed in both human and chimpanzee genomes

  hg16 genomic individuals element computational pcr pcr-based

• Evolution of two distinct phylogenetic lineages of the emerging human pathogen Mycobacterium ulcerans.

  PMID 17900363 · PMC2098775 · BMC evolutionary biology · 2007 · 8 claims · 4 setups

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  M. ulcerans has evolved into five InDel haplotypes that separate into two distinct phylogenetic lineages: a 'classical' lineage (Africa, Australia, South East Asia) and an 'ancestral' lineage (Asia, South America, Mexico)

  ulcerans marinum plasmid-based pcr genome

• targetTB: a target identification pipeline for Mycobacterium tuberculosis through an interactome, reactome and genome-scale structural analysis.

  PMID 19099550 · PMC2651862 · BMC systems biology · 2008 · 8 claims · 8 setups

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  A comprehensive in silico target identification pipeline (targetTB) integrating interactome, reactome, essentiality, sequence and structural analyses can identify high-confidence drug targets for Mtb

  tuberculosis mtb protein-protein flux transposon

• Analysis of copy number variation using quantitative interspecies competitive PCR.

  PMID 18697816 · PMC2553599 · Nucleic acids research · 2008 · 7 claims · 6 setups

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  qicPCR uses the entire genome of a single chimpanzee as a competitor, requiring only one reference sample for all assays and enabling large-scale multiplexing

  genomic single 22q11ds qicpcr-derived qicpcr mlpa fluorescence

• Sequence context affects the rate of short insertions and deletions in flies and primates.

  PMID 18291026 · PMC2374710 · Genome biology · 2008 · 8 claims · 6 setups

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  The rate of insertion or deletion of specific lengths can vary by more than 100-fold depending on the surrounding sequence context

  chimpanzee simulans chimp primate comparative direct nucleotide