Publications

PUBLICATION

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series 

Sara Gracie et al.

Am J Med Genet A. 2025 Mar;197(3):e63927. doi: 10.1002/ajmg.a.63927. Epub 2024 Nov 6.

Published on November 6, 2024

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 Read more

PUBLICATION

Multiplatform metabolomic interlaboratory study of a whole human stool candidate reference material from omnivore and vegan donors 

Abraham Kuri Cruz et al.

Metabolomics. 2024 Nov 4;20(6):125. doi: 10.1007/s11306-024-02185-0.

Published on November 4, 2024

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 Read more

PUBLICATION

xCT as a Predictor for Survival in a Population-Based Cohort of Head and Neck Squamous Cell Carcinoma 

Linda Nissi et al.

Cancer Med. 2024 Nov;13(21):e70371. doi: 10.1002/cam4.70371.

Published on November 2, 2024

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 Read more

PUBLICATION

Structural Repetition Detector: multi-scale quantitative mapping of molecular complexes through microscopy 

Afonso Mendes et al.

Res Sq [Preprint]. 2024 Oct 15:rs.3.rs-5182329. doi: 10.21203/rs.3.rs-5182329/v1.

Published on November 1, 2024

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 Read more

PUBLICATION

Imaging cell architecture and dynamics 

Lucy Collinson et al.

J Cell Sci. 2024 Oct 15;137(20):jcs263575. doi: 10.1242/jcs.263575. Epub 2024 Oct 30.

Published on October 30, 2024

No abstract

PUBLICATION

Encapsulated mitochondria to reprogram the metabolism of M2-type macrophages for anti-tumor therapy 

Yonghui Wang et al.

Nanoscale. 2024 Nov 21;16(45):20925-20939. doi: 10.1039/d4nr02471k.

Published on October 29, 2024

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 Read more

PUBLICATION

Multiparameter imaging reveals clinically relevant cancer cell-stroma interaction dynamics in head and neck cancer 

Karolina Punovuori et al.

Cell. 2024 Dec 12;187(25):7267-7284.e20. doi: 10.1016/j.cell.2024.09.046. Epub 2024 Oct 28.

Published on October 29, 2024

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 Read more

PUBLICATION

Glutaraldehyde-enhanced autofluorescence as a general tool for 3D morphological imaging 

Miika Niemeläinen et al.

Biol Open. 2024 Nov 15;13(11):bio060428. doi: 10.1242/bio.060428. Epub 2024 Nov 11.

Published on October 21, 2024

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 Read more

PUBLICATION

Empirically establishing drug exposure records directly from untargeted metabolomics data 

Haoqi Nina Zhao et al.

bioRxiv [Preprint]. 2024 Oct 26:2024.10.07.617109. doi: 10.1101/2024.10.07.617109.

Published on October 17, 2024

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 Read more

PUBLICATION

Detection of Tn-antigen in breast and prostate cancer models by VVL-labeled red dye-doped nanoparticles 

Alejandra Verhassel et al.

Nanomedicine (Lond). 2024;19(29):2463-2478. doi: 10.1080/17435889.2024.2405454. Epub 2024 Oct 9.

Published on October 9, 2024

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 Read more

PUBLICATION

Restoring mechanophenotype reverts malignant properties of ECM-enriched vocal fold cancer 

Jasmin Kaivola et al.

bioRxiv [Preprint]. 2024 Aug 23:2024.08.22.609159. doi: 10.1101/2024.08.22.609159.

Published on October 7, 2024

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 Read more

PUBLICATION

Concordant inter-laboratory derived concentrations of ceramides in human plasma reference materials via authentic standards 

Federico Torta et al.

Nat Commun. 2024 Oct 3;15(1):8562. doi: 10.1038/s41467-024-52087-x.

Published on October 3, 2024

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 Read more