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).

• 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

  Full-text index only

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

  bhk-21 genomic ush confocal western cycloheximide

• 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

  Full-text index only

  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

  Full-text index only

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

  hela immunofluorescence real-time luciferase

• 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

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

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

  Full-text index only

  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

• 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

  Full-text index only

  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

• 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

  Full-text index only

  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

• 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

  Full-text index only

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

  genomic nhs-a hek mdck pcr pcr-based western

• 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

  Full-text index only

  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

• 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

  Full-text index only

  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

• Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.

  PMID 16417627 · PMC1382246 · BMC genetics · 2006 · 8 claims · 7 setups

  Full-text index only

  Heterozygous truncating BRCA2 mutations occur in 47% (7/15) of gastrointestinal MSI cancer cell lines/xenografts, a higher rate than previously reported

  gastrointestinal ls174t pl3 msi gene rt-pcr rad51

• A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

  PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups

  Full-text index only

  The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls

  peripheral cos-7 dhplc immunofluorescence

• The Drosophila estrogen-related receptor promotes triglyceride storage within the larval fat body.

  PMID 40288680 · PMC12155637 · Journal of lipid research · 2025 · 8 claims · 8 setups

  Has reproduction · 88

  dERR autonomously promotes TAG accumulation within larval fat body cells

  mid-l2 larval dissected tag immunofluorescence nile

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

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

  Full-text index only

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

  hela silac immunoblot flow

• 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

  Full-text index only

  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

• Contribution of the C-terminal region within the catalytic core domain of HIV-1 integrase to yeast lethality, chromatin binding and viral replication.

  PMID 19014595 · PMC2615443 · Retrovirology · 2008 · 7 claims · 8 setups

  Full-text index only

  IN mutants V165A, A179P and KR186,7AA in the C-terminal region of the catalytic core domain fail to induce the lethal phenotype in HP16 yeast

  saccharomyces hp16 293t cos-7 yeast immunoprecipitation chromatin

• Forward genetic analysis of the apicomplexan cell division cycle in Toxoplasma gondii.

  PMID 18282098 · PMC2242837 · PLoS pathogens · 2008 · 8 claims · 6 setups

  Full-text index only

  A high-throughput ENU mutagenesis screen isolated 165 temperature-sensitive (ts) Toxoplasma growth mutants from ~60,000 clones.

  gondii genomic chemical flow immunofluorescence

• A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

  PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups

  Full-text index only

  A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family

  family sural nefl-null sw-13 clinical genetic immunohistochemistry

• Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

  PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups

  Full-text index only

  SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4

  spsma spsma-affected hek293 candidate histopathology confocal

• NeMeSys: a biological resource for narrowing the gap between sequence and function in the human pathogen Neisseria meningitidis.

  PMID 19818133 · PMC2784325 · Genome biology · 2009 · 8 claims · 5 setups

  Full-text index only

  Determined and manually annotated the complete genome sequence of N. meningitidis clinical isolate strain 8013

  meningitidis archived strain neisseria whole-genome transposon targeted