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

  Full-text index only

  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

• A case of Birt-Hogg-Dubé syndrome.

  PMID 18437022 · PMC2526433 · Journal of Korean medical science · 2008 · 6 claims · 3 setups

  Full-text index only

  A novel deletion mutation (p.F519LfsX17 [c.1557delT]) in exon 14 of the BHD (FLCN) gene causes a truncated folliculin protein and is the cause of Birt-Hogg-Dubé syndrome in this patient

  skin chest genomic histopathology computed pcr

• A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

  PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

  Full-text index only

  A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family

  skeletal abductor genomic proband needle short muscle

• Genetic and epigenetic alterations of Ras signalling pathway in colorectal neoplasia: analysis based on tumour clinicopathological features.

  PMID 17923875 · PMC2360240 · British journal of cancer · 2007 · 8 claims · 4 setups

  Full-text index only

  K-ras/BRAF mutations and RASSF2 methylation frequently co-occur in colorectal adenomas, suggesting synergistic cooperation

  colorectal clinicopathological direct combined histopathological

• A spectrum of severe familial liver disorders associate with telomerase mutations.

  PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups

  Full-text index only

  Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.

  leukocyte leukocytes reconstitution liver sanger flow telomerase

• GSDME-mediated pyroptosis promotes the progression and associated inflammation of atherosclerosis.

  PMID 36807553 · PMC9938904 · Nature communications · 2023 · 8 claims · 8 setups

  Has reproduction · 85

  GSDME-mediated pyroptosis promotes atherosclerosis progression and its associated inflammation

  carotid macrophages gsdme− apoe− single-cell transmission immunohistochemistry

• Gut-derived Lactobacillus from exceptional responders mitigates chemoradiotherapy-induced intestinal injury through methionine-driven epigenetic modulation.

  PMID 40469520 · PMC12130557 · iMeta · 2025 · 8 claims · 8 setups

  Has reproduction · 89

  High pretreatment gut abundance of Lactobacillus (and Bifidobacterium) is strongly associated with the absence of ACRIII in rectal cancer patients undergoing neoadjuvant chemoradiotherapy.

  baseline model mice intestinal shotgun fecal intestinal

• A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

  PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups

  Full-text index only

  A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.

  genomic excised left pcr pcr-restriction histopathology

• Of brain and bone: the unusual case of Dr. A.

  PMID 20183548 · PMC2997763 · Neurocase · 2009 · 7 claims · 8 setups

  Full-text index only

  Dr. A's EXT2 mutation may play a role in the pattern of neurodegeneration seen in his FTD, given that Ext1-knockout mice show CNS defects including loss of olfactory bulbs and abnormally small cerebral cortex

  structural blood postmortem muscle voxel-based genetic neuropathology

• comBO: A combined human bone and lympho-myeloid bone marrow organoid for preclinical modeling of hematopoietic disorders.

  PMID 41734765 · PMC7618947 · Cell stem cell · 2026 · 8 claims · 8 setups

  Has reproduction · 65

  comBO is a single iPSC-derived organoid differentiation that generates osteolineage, vascular, lymphoid, and myeloid compartments together

  hipsc-derived combo combo-derived healthy-donor flow single-cell confocal

• 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

  Full-text index only

  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

• RNA Editing Alterations Define Disease Manifestations in the Progression of Experimental Autoimmune Encephalomyelitis (EAE).

  PMID 36429012 · PMC9688714 · Cells · 2022 · 6 claims · 7 setups

  Has reproduction · 37

  RNA-editing events mediated by APOBEC and ADAR deaminases are significantly reduced throughout the course of EAE disease progression.

  brain naïve wild-type spinal editing quantitative eae

• Patient-Derived Meningioma Organoids: A Reliable Model for Studying Human Tumor Pathophysiology.

  PMID 39941893 · PMC11817449 · Cancers · 2025 · 8 claims · 7 setups

  Has reproduction · 50

  A standardized, reproducible protocol can establish meningioma organoids (MEN-Os) from patient-resected tumor tissue without mechanical/enzymatic dissociation, using serum-free medium lacking growth factors or exogenous ECM.

  patient-resected men-os parent oct-embedded organoid brightfield h&e

• A candidate metastasis-associated DNA marker for ductal mammary carcinoma.

  PMID 12631399 · PMC154149 · Breast cancer research : BCR · 2003 · 8 claims · 8 setups

  Full-text index only

  RDA comparing normal and metastatic ductal breast carcinoma cell DNA identified 10 unique metastasis-associated DNA sequences (MADS) apparently lost in metastatic cells

  microdissected h&e-stained metastatic cloned representational single laser

• Longitudinal analysis of early stage sarcopenia in aging rhesus monkeys.

  PMID 18983905 · PMC2693938 · Experimental gerontology · 2009 · 8 claims · 6 setups

  Full-text index only

  mtDNA deletion mutations induce ETS enzyme abnormalities (COXneg/SDHhyp phenotypes) linked to intra-fiber atrophy and fiber loss

  rhesus vastus muscle single dual hematoxylin immunohistochemistry

• Multimodal data integration for biologically-relevant artificial intelligence to guide adjuvant chemotherapy in stage II colorectal cancer.

  PMID 40472802 · PMC12171563 · EBioMedicine · 2025 · 6 claims · 7 setups

  Has reproduction · 83

  AI-derived radiological clustering identifies stage II CRC patients with significantly different survival benefit from adjuvant chemotherapy

  stage patients tumour whole-tumour radiomics bulk cellular

• Itaconate and derivatives reduce interferon responses and inflammation in influenza A virus infection.

  PMID 35025971 · PMC8846506 · PLoS pathogens · 2022 · 8 claims · 8 setups

  Has reproduction · 95

  Acod1 expression and itaconate synthesis are induced in mouse lung during IAV infection and correlate with inflammation and disease severity

  lung c57bl pbmcs macrophages bulk metabolomics histopathology

• A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.

  PMID 18804929 · PMC2702532 · Brain & development · 2009 · 6 claims · 8 setups

  Full-text index only

  A novel homozygous POMT2 mutation (c.604T>G, p.F202V) causes mild congenital muscular dystrophy with normal brain MRI

  skeletal genomic cos serum immunohistochemistry immunoblotting laminin

• Mutational analyses of multiple target genes in histologically heterogeneous gastric cancer with microsatellite instability.

  PMID 10081489 · PMC5921733 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 5 setups

  Full-text index only

  MSI frequency in gastric cancers with histological heterogeneity was 35% (7/20 cases) and 28% (11/40 tumor DNAs), consistent with prior gastric cancer MSI studies.

  formalin-fixed msi-positive surgically microsatellite pcr-sscp histopathological

• Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.

  PMID 16707008 · PMC1483898 · BMC cancer · 2006 · 6 claims · 4 setups

  Full-text index only

  Somatic VHL gene alterations (LOH and mutation) may contribute to pathogenesis of MEN2A-associated MTC, similar to their role in MEN2 pheochromocytoma

  microdissected same genomic frozen microsatellite loss vhl