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).

• Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.

  PMID 18948002 · PMC2592511 · Neuromuscular disorders : NMD · 2008 · 7 claims · 7 setups

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  The patient carries a homozygous Trp25X (TGG→TGA) mutation in TCAP causing premature termination of translation/transcription and complete telethonin deficiency.

  pelvis skeletal muscle genomic muscle histology electron

• CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.

  PMID 36396635 · PMC9672366 · Nature communications · 2022 · 8 claims · 7 setups

  Has reproduction · 50

  Loss of CHD7 or its chromatin remodeling (ATPase) activity causes complete absence of hair cells and supporting cells in inner ear organoids.

  pax2ng inner facs-isolated pax2ng+ western immunostaining scrna-seq

• Spatially resolved phosphoproteomics reveals fibroblast growth factor receptor recycling-driven regulation of autophagy and survival.

  PMID 36329028 · PMC9633600 · Nature communications · 2022 · 8 claims · 6 setups

  Has reproduction · 87

  A spatially resolved phosphoproteomics (SRP) approach combining APEX2-driven proximity biotinylation with phosphopeptide enrichment was developed to identify FGFR2b signalling partners near recycling endosomes.

  hela_fgfr2bst hela-fgfr2b hela_fgfr2b-apex2st hela-fgfr2bst_rab11-apex2 confocal western ms-based

• 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

• 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

• Identification of the stress granule transcriptome via RNA-editing in single cells and in vivo.

  PMID 35784648 · PMC9243631 · Cell reports methods · 2022 · 8 claims · 7 setups

  Has reproduction · 66

  A purification-free hyperTRIBE method (FMR1-ADARcd-V5) can identify stress granule RNAs in bulk and single Drosophila S2 cells and in Drosophila neurons

  fmr1-adarcd-v5 single bioinformatic drosophila immunofluorescence western bulk

• Identification of a dominant epitope of glutamic acid decarboxylase (GAD-65) recognized by autoantibodies in stiff-man syndrome.

  PMID 8245784 · PMC2191306 · The Journal of experimental medicine · 1993 · 8 claims · 6 setups

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  All 30 SMS patient sera selectively recognize GAD-65, but not GAD-67, when tested by Western blotting on denatured GAD.

  brain bacterial triton cho western immunoprecipitation immunocytochemistry

• Proteomic analysis of tumor necrosis factor-alpha resistant human breast cancer cells reveals a MEK5/Erk5-mediated epithelial-mesenchymal transition phenotype.

  PMID 19087274 · PMC2656902 · Breast cancer research : BCR · 2008 · 8 claims · 7 setups

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  MEK5 over-expression promotes a TNF-α resistance phenotype in MCF-7 breast cancer cells

  mcf-7-mek5 mcf-7 western clonogenic immunofluorescence

• A naturally occurring human RPA subunit homolog does not support DNA replication or cell-cycle progression.

  PMID 19942684 · PMC2817474 · Nucleic acids research · 2010 · 8 claims · 7 setups

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  Exogenous RPA4 expression does not support chromosomal DNA replication and causes cell-cycle arrest in G2/M

  hela mammalian rpa4 western flow immunofluorescence

• Rapid preparation of nuclei-depleted detergent-resistant membrane fractions suitable for proteomics analysis.

  PMID 18534013 · PMC2440737 · BMC cell biology · 2008 · 6 claims · 4 setups

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  A modified differential detergent extraction method (pelleting nuclei/intact cells at low speed before detergent solubilization) yields DRM fractions with markedly reduced nuclear protein contamination compared to the conventional method.

  lncap fractions immunofluorescence differential concentration

• Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma.

  PMID 19654294 · PMC2754824 · Cancer research · 2009 · 8 claims · 7 setups

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  Secondary BRCA2 mutations restore BRCA2 protein/reading frame and thereby cause acquired platinum and PARP inhibitor resistance in BRCA2-mutated ovarian carcinoma

  ovarian peo1 v-c8-dr-gfp western brca2 crystal

• Mutations in the focal adhesion targeting region of deleted in liver cancer-1 attenuate their expression and function.

  PMID 18829524 · PMC2597479 · Cancer research · 2008 · 8 claims · 6 setups

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  The DLC-1 fragment spanning residues 201-500 is sufficient for focal adhesion targeting (FAT region)

  a549 prostate colon mda-mb-468 immunofluorescence pcr colony

• Point mutations in GLI3 lead to misregulation of its subcellular localization.

  PMID 19829694 · PMC2758996 · PloS one · 2009 · 6 claims · 8 setups

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  The MID1-α4-PP2A complex regulates the subcellular localization and transcriptional activity of GLI3.

  hela immunofluorescence real-time luciferase

• αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor.

  PMID 26177020 · PMC4503440 · PloS one · 2015 · 8 claims · 8 setups

  Has reproduction

  αPIX interacts with c-Cbl, including as endogenous proteins

  cho-k1 cos-7 cho αpix co-immunoprecipitation time-course stability

• A large-scale proteomic analysis of human embryonic stem cells.

  PMID 18162134 · PMC2211323 · BMC genomics · 2007 · 8 claims · 5 setups

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  Two large-scale western blot systems (PowerBlot, Kinexus) identify over 600 proteins expressed in undifferentiated hESCs across 18 functional classes

  bg01 bg03 hescs powerblot kinexus immunofluorescence

• ZAP targets aberrant mRNA transcripts encoding proteins with defective signal peptides for degradation.

  PMID 41820617 · PMC13084044 · The EMBO journal · 2026 · 8 claims · 7 setups

  Has reproduction · 50

  ZAP (ZC3HAV1/PARP13) is a key component of the RAPP quality control pathway

  k562 zap-s rt-qpcr western immunofluorescence

• Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

  PMID 16934001 · PMC1550284 · PLoS genetics · 2006 · 7 claims · 6 setups

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  The E320Q, Q463H, and L706S STAT1 alleles are intrinsically deleterious for both IFNG/GAF-mediated and IFNA/ISGF3-mediated immunity when tested in STAT1-deficient transfected cells

  ebv-transformed sv40-transformed nuclear stat1-deficient cdna western immunofluorescence

• GRAMD1B is a regulator of lipid homeostasis, autophagic flux and phosphorylated tau.

  PMID 40204713 · PMC11982250 · Nature communications · 2025 · 8 claims · 7 setups

  Has reproduction · 91

  GRAMD1B is increased in excitatory neurons of human neural organoids (HNOs) carrying the MAPT R406W mutation

  neural hno single-cell immunofluorescence western

• Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.

  PMID 18174378 · PMC2605348 · Blood · 2008 · 7 claims · 8 setups

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  Homozygous SLC4A1 Ser667Phe mutation causes both hereditary spherocytosis and incomplete distal renal tubular acidosis in the proband

  erythrocyte genomic erythrocytes xenopus sds-page sscp dids

• PID1 regulates insulin-dependent glucose uptake by controlling intracellular sorting of GLUT4-storage vesicles.

  PMID 30904610 · PMC6624118 · Biochimica et biophysica acta. Molecular basis of disease · 2019 · 8 claims · 8 setups

  Has reproduction

  PID1 serves as an insulin-regulated retention adaptor protein controlling co-translocation of LRP1 and GLUT4 to the adipocyte plasma membrane

  brown bat muscle qrt-pcr western insulin