Publications
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Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series
Heterozygous de novo loss of function variants in the motor domain of KIF5C are associated with a neurodevelopmental disorder characterized by infantile-onset epilepsy, frontal cortical dysplasia, and developmental…
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Multiplatform metabolomic interlaboratory study of a whole human stool candidate reference material from omnivore and vegan donors
CONCLUSION: This collaborative exercise emphasized the broad chemical survey possible with multi-technique approaches. Community engagement is essential for the evaluation and characterization of common materials designed to facilitate…
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xCT as a Predictor for Survival in a Population-Based Cohort of Head and Neck Squamous Cell Carcinoma
CONCLUSIONS: High xCT expression was associated with poor prognosis in OPSCC. Our findings suggest that joint analysis of xCT and p16 may add significant value in OPSCC treatment…
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Structural Repetition Detector: multi-scale quantitative mapping of molecular complexes through microscopy
From molecules to organelles, cells exhibit recurring structural motifs across multiple scales. Understanding these structures provides insights into their functional roles. While superresolution microscopy can visualise such patterns,…
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Imaging cell architecture and dynamics
No abstract
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Multiparameter imaging reveals clinically relevant cancer cell-stroma interaction dynamics in head and neck cancer
Epithelial tumors are characterized by abundant inter- and intra-tumor heterogeneity, which complicates diagnostics and treatment. The contribution of cancer-stroma interactions to this heterogeneity is poorly understood. Here, we…
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Encapsulated mitochondria to reprogram the metabolism of M2-type macrophages for anti-tumor therapy
M2-type macrophages (M2Φ) play a pro-tumorigenic role and are closely associated with tumor development, where metabolic dysregulation exacerbates the immunosuppressive tumor microenvironment and fosters tumor growth. Mitochondria serve…
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Glutaraldehyde-enhanced autofluorescence as a general tool for 3D morphological imaging
Routine histochemical techniques are capable of producing vast amount of information from diverse sample types, but these techniques are limited in their ability to generate 3D information. Autofluorescence…
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Empirically establishing drug exposure records directly from untargeted metabolomics data
Despite extensive efforts, extracting information on medication exposure from clinical records remains challenging. To complement this approach, we developed the tandem mass spectrometry (MS/MS) based GNPS Drug Library.…
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Detection of Tn-antigen in breast and prostate cancer models by VVL-labeled red dye-doped nanoparticles
Aim: Fluorescence detection of breast and prostate cancer cells expressing Tn-antigen, a tumor marker, with Vicia villosa lectin (VVL)-labeled nanoparticles.Materials & methods: Breast and prostate cancer cells engineered…
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Restoring mechanophenotype reverts malignant properties of ECM-enriched vocal fold cancer
Increased extracellular matrix (ECM) and matrix stiffness promote solid tumor progression. However, mechanotransduction in cancers arising in mechanically active tissues remains underexplored. Here, we report upregulation of multiple…
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Concordant inter-laboratory derived concentrations of ceramides in human plasma reference materials via authentic standards
In this community effort, we compare measurements between 34 laboratories from 19 countries, utilizing mixtures of labelled authentic synthetic standards, to quantify by mass spectrometry four clinically used…