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 C-terminus of the X protein of hepatitis B virus regulate Wnt-5a expression in hepatoma Huh7 cells: cDNA microarray and proteomic analyses.

  PMID 18477650 · PMC2443277 · Carcinogenesis · 2008 · 8 claims · 7 setups

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  HBx C-terminal deletion mutants (HBx3'-30 and HBx3'-40) produce differentially expressed gene and protein profiles in transfected Huh7 HCC cells, mostly involving transcriptional regulation, oncogenes/tumor suppressors, cell junctions, signal transduction, metabolism and immune response

  huh7 frozen hcc genomic cdna two-dimensional western

• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

  PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups

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  Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C

  cmt2c affected spinal drg genetic sanger quantitative

• A functional map of NFkappaB signaling identifies novel modulators and multiple system controls.

  PMID 17553156 · PMC2394752 · Genome biology · 2007 · 8 claims · 6 setups

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  154 positive and 88 negative modulators of NFκB signaling were identified from genomic screens

  hek-293t tissues gain-of-function loss-of-function glucocorticoid

• Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 abolishes endotoxin-induced signaling.

  PMID 11435474 · PMC2193443 · The Journal of experimental medicine · 2001 · 8 claims · 7 setups

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  MD-2 is a required component of the LPS signaling complex; a point mutation in MD-2 abolishes LPS-induced signaling

  cho hek western nf-kb il-6

• Functional analysis of human mutations in homeodomain transcription factor PITX3.

  PMID 17888164 · PMC2093940 · BMC molecular biology · 2007 · 7 claims · 5 setups

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  Both S13N and G219fs mutants show partial loss-of-function in DNA-binding and/or transactivation activity, with G219fs more severely affected than S13N

  lens western immunocytochemistry electrophoretic

• The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.

  PMID 17438525 · PMC2669504 · Molecular vision · 2007 · 8 claims · 8 setups

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  NR2E3 LBD fused to a heterologous Gal4 DBD mediates dose-dependent transcriptional repression on Gal4-responsive reporters.

  cos-1 hela luciferase western electrophoretic

• 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

• Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.

  PMID 18424447 · PMC2465800 · Human molecular genetics · 2008 · 6 claims · 8 setups

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  Nonsense-mediated mRNA decay (NMD) degrades mutant SOD1 mRNA carrying a PTC in non-terminal exons (1-4), explaining why ALS-associated PTC mutations are found only in exon 5

  transgenic nih hsod1 lumbar southern northern rt-pcr

• Tyrosine phosphorylation inhibits PKM2 to promote the Warburg effect and tumor growth.

  PMID 19920251 · PMC2812789 · Science signaling · 2009 · 7 claims · 8 setups

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  Oncogenic FGFR1 directly phosphorylates PKM2 at tyrosine 105 (Y105), inhibiting its enzymatic activity

  293t kg-1a recombinant h1299 ms-based co-transfection enzymatic

• Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

  PMID 19753315 · PMC2742642 · Molecular vision · 2009 · 8 claims · 5 setups

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  Wild-type HA-tagged CLRN1 is correctly trafficked to the plasma membrane in transfected BHK-21 cells

  bhk-21 genomic ush confocal western cycloheximide

• Biased exon/intron distribution of cryptic and de novo 3' splice sites.

  PMID 16141195 · PMC1197134 · Nucleic acids research · 2005 · 7 claims · 5 setups

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  Cryptic 3'ss (from 3'YAG consensus mutations) are significantly more frequent in exons than in introns

  disease authentic hek293t nuclear literature shapiro-senapathy splicing

• Quantitative membrane proteomics reveals new cellular targets of viral immune modulators.

  PMID 17238276 · PMC1626102 · PLoS pathogens · 2006 · 8 claims · 8 setups

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  SILAC-based quantitative membrane proteomics can identify novel targets of viral immunomodulators in an unbiased manner

  hela silac immunoblot flow

• In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

  PMID 17726045 · PMC2094079 · Nucleic acids research · 2007 · 8 claims · 6 setups

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  Two exonic mutations, PINK1 E417G and PARK7 E64D, disrupt binding to U1 snRNA and cause skipping of the mutation-harboring exon

  hek293 genome lymphocytes minigene artificial genome-wide

• Mutations of the Igbeta gene cause agammaglobulinemia in man.

  PMID 17709424 · PMC2118692 · The Journal of experimental medicine · 2007 · 6 claims · 5 setups

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  A homozygous nonsense mutation (Gln80X) in the Igβ (B29) gene causes agammaglobulinemia in a human patient

  genomic drosophila pbmcs sorted pcr transfection flow

• 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

• Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

  PMID 18949062 · PMC2571945 · Molecular vision · 2008 · 8 claims · 5 setups

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  Truncating (nonsense/frameshift) mutations in NHS cause Nance-Horan syndrome by prematurely terminating the protein

  genomic nhs-a hek mdck pcr pcr-based western

• Raf-1 activation disrupts its binding to keratins during cell stress.

  PMID 15314064 · PMC2172217 · The Journal of cell biology · 2004 · 8 claims · 8 setups

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  Raf-1 kinase associates directly with keratin K8 (not K18), independent of Raf kinase activity and independent of Ras-Raf interaction

  ht29 transgenic bhk-21 bhk co-immunoprecipitation co-transfection oxidative

• Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

  PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups

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  Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy

  blood cos-1 bacteria mitochondria sequencing cell-based recombinant

• A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

  PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.

  family hek293t lymphoid pcr-amplified fluorometric site-directed western

• A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

  PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups

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  The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.

  microdissected resected non-tumor liver pcr-rflp immunohistochemistry western