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 CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

  PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

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  Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

  genomic frozen skeletal korean direct rt-pcr-based pcr-restriction

• Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics.

  PMID 19655247 · PMC2903621 · Digestive diseases and sciences · 2009 · 8 claims · 8 setups

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  Candidate gene association studies with IBS symptom phenotype (e.g., SLC6A4, GNB3, IL-10) have generally produced inconsistent, unreplicated results.

  ibs ibs-d ibs-c subjects candidate genotyping mutational

• Sequence variation of PfEMP1-DBLalpha in association with rosette formation in Plasmodium falciparum isolates causing severe and uncomplicated malaria.

  PMID 19650937 · PMC3224928 · Malaria journal · 2009 · 8 claims · 5 setups

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  Sequence group 1 (mainly from uncomplicated malaria) is significantly different in distribution from sequence group 3 (mainly from severe malaria)

  falciparum falciparum-infected pcr-amplified non-identical static rosette rt-pcr

• Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

  PMID 19649643 · PMC3104467 · Acta neuropathologica · 2010 · 8 claims · 8 setups

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  GRN transcript haploinsufficiency, previously shown in blood-derived cells, does not hold in most brain regions of GRN mutation carriers

  peripheral postmortem hek293 qrt-pcr microarray rt-pcr

• Modeling splicing outcome by combining 5'ss strength and splicing regulatory elements.

  PMID 35947702 · PMC9410876 · Nucleic acids research · 2022 · 7 claims · 8 setups

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  In silico designed sequences with a priori prescribed HEXplorer splicing regulatory properties can be concatenated to arbitrary length without changing their regulatory properties

  hela proteins fibroblasts cardiovascular massively rt-pcr quantitative

• Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disorders.

  PMID 41678398 · PMC13078869 · The Journal of clinical investigation · 2026 · 7 claims · 12 setups

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  EANMD, a new computational tool, identifies AS-NMD exons using the 50 nt rule plus additional transcript-level features and outperforms existing tools (SpliceTools, NMD Classifier)

  neuro2a embryonic e14.5 cortical rna-seq pacbio rt-pcr

• Prediction and assessment of splicing alterations: implications for clinical testing.

  PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups

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  Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification

  brca1 lymphocytes mammalian large bioinformatic cycloheximide mini-gene

• Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.

  PMID 18680191 · PMC3708306 · American journal of medical genetics. Part A · 2008 · 8 claims · 3 setups

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  A novel heterozygous SCN1A frameshift mutation, c.3608delA (p.Gln1203HisfsX4), was identified in a postmortem SMEI patient, located in the D2-D3 intracellular linker of NaV1.1.

  postmortem cdna western quantitative

• Proteomic alteration in gastic adenocarcinomas from Japanese patients.

  PMID 17187689 · PMC1774573 · Molecular cancer · 2006 · 7 claims · 2 setups

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  2D-EP and LC-ESI-MS/MS identified 69 different proteins in gastric tumor tissue, classifiable into cytoskeletal, stress/chaperone, glycolytic, metabolic, tumor suppressor, and stomach-specific categories.

  paired two-dimensional rt-pcr

• Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer.

  PMID 18842121 · PMC2571110 · BMC cancer · 2008 · 8 claims · 2 setups

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  Somatic mutations in the mtDNA D-loop are found in 57% of ovarian cancer samples, mostly C-tract length changes and substitutions

  ovarian sanger real-time

• Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts.

  PMID 19835606 · PMC2784330 · Genome biology · 2009 · 7 claims · 2 setups

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  Hybrid selection of cDNA dramatically increases the specificity of sequencing reads mapping to targeted cancer-related transcripts.

  k-562 targeted sanger

• New strategies in drug discovery.

  PMID 16671397 · PMC7120019 · Methods in molecular biology (Clifton, N.J.) · 2006 · 8 claims · 8 setups

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  A new integrated drug discovery paradigm has emerged combining clinical, genetic, genomic, and molecular phenotype data with cheminformatics, managed via informatics

  animal normal low-abundance mice situ microarray taqman

• Synergism between IL7R and CXCR4 drives BCR-ABL induced transformation in Philadelphia chromosome-positive acute lymphoblastic leukemia.

  PMID 32581241 · PMC7314847 · Nature communications · 2020 · 8 claims · 8 setups

  Has reproduction · 92

  IL7R interacts with CXCR4 to recruit BCR-ABL1 and JAK kinases into close proximity, forming a molecular platform for transformation

  bm-derived pediatric bcr-abl1-transformed nod-scid rna-sequencing gene flow

• Numb prevents a complete epithelial-mesenchymal transition by modulating Notch signalling.

  PMID 29187638 · PMC5721160 · Journal of the Royal Society, Interface · 2017 · 8 claims · 8 setups

  Has reproduction · 49

  Numb/Numbl acts as a 'phenotypic stability factor' (PSF) that inhibits a complete EMT by stabilizing the hybrid E/M phenotype

  single-cell lattice h1975 ode-based multi-cell sirna

• Expansion of the SOS regulon of Vibrio cholerae through extensive transcriptome analysis and experimental validation.

  PMID 29783948 · PMC5963079 · BMC genomics · 2018 · 8 claims · 8 setups

  Has reproduction · 85

  Whole transcriptome sequencing with extensive TSS mapping identified 3078 transcription start sites and 629 ncRNAs in V. cholerae N16961

  cholerae lexa identified directional end rt-pcr

• CRISPR/Cas9 Screens Reveal Multiple Layers of B cell CD40 Regulation.

  PMID 31365872 · PMC6684324 · Cell reports · 2019 · 8 claims · 8 setups

  Has reproduction

  Genome-wide CRISPR/Cas9 screening in Daudi B cells using CD40L-induced Fas upregulation as a readout identifies both positive and negative regulators of CD40

  daudi splenic genome-wide immunoblot qpcr

• In vivo induction of activin A-producing alveolar macrophages supports the progression of lung cell carcinoma.

  PMID 36650150 · PMC9845242 · Nature communications · 2023 · 8 claims · 8 setups

  Has reproduction · 96

  AMs accumulate in human lung cancer tissue and support cancer cell proliferation, contributing to unfavourable outcome

  normal llc lung c57bl immunohistochemistry count flow

• Prediction of Alzheimer's disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening.

  PMID 33397809 · PMC7826347 · Proceedings of the National Academy of Sciences of the United States of America · 2021 · 7 claims · 7 setups

  Has reproduction · 48

  An AD-specific frameshift insertion SNV in exon 27 of mouse PLCγ1 causes abnormal exon skipping (exons 26-30) during mRNA maturation in 5xFAD cortex

  cortex forebrain plcγ1 bulk rna-seq-based western

• NUSAP1 Could be a Potential Target for Preventing NAFLD Progression to Liver Cancer.

  PMID 35431924 · PMC9010788 · Frontiers in pharmacology · 2022 · 7 claims · 8 setups

  Has reproduction · 45

  NUSAP1 is a hub gene linking NAFLD fibrosis progression and NAFLD-associated HCC

  liver common hl-7702 c57bl deg kegg rt-pcr

• Identification of herpesvirus transcripts from genomic regions around the replication origins.

  PMID 37773348 · PMC10541914 · Scientific reports · 2023 · 8 claims · 8 setups

  Has reproduction · 59

  Herpesviruses display distinct patterns of transcriptional overlaps near or at the replication origins (Oris)

  nine same vzv prv direct cage-seq qrt-pcr