Publications by authors named "Tristan Stemmelen"
Metastatic dissemination is driven by genetic, biochemical, and biophysical cues that favor the distant colonization of organs and the formation of life-threatening secondary tumors. We have previously demonstrated that endothelial cells (ECs) actively remodel during extravasation by enwrapping arrested tumor cells (TCs) and extruding them from the vascular lumen while maintaining perfusion. In this work, we dissect the cellular and molecular mechanisms driving endothelial remodeling.
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- The study investigates a specific genetic variant in the IP3 receptor that results in a significant disorder affecting multiple systems, characterized by immunodeficiency and disturbed calcium release in cells.
- The variant (c.7570C>T, p.Arg2524Cys) leads to cellular defects, particularly impacting T cells, and is shown to affect calcium regulation and mitochondrial function, evidenced in laboratory models.
- Patients exhibited a range of symptoms beyond immunodeficiency, such as ectodermal dysplasia and short stature, suggesting that this genetic mutation plays a unique and broader role in disease compared to previously documented cases.
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- Tumor-derived extracellular vesicles (tEVs) travel through the bloodstream and can influence distant organs to promote cancer spread (metastasis).
- Research shows that low blood flow in veins helps endothelial cells absorb tEVs more effectively and reroutes them to less degrading locations within the cells, avoiding destruction in lysosomes.
- This altered trafficking enhances the tEVs' ability to stimulate blood vessel growth and supports pre-metastatic niche formation, suggesting that tEVs exploit blood flow dynamics to aid tumor progression.
Adipose tissue plays a central role in age-related diseases. While RNAseq protocols exist for many tissues, few data have been generated with this technology to explore gene expression in adipocytes, particularly during aging. Here, we present a protocol to analyze the transcriptional changes that occur in adipose tissue during normal and accelerated aging in mouse models.
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- A case study is presented of a patient whose postchemotherapy thymic teratoma developed an MNT component and later experienced vertebral metastasis corresponding to anaplastic MNT, highlighting the complications that can arise from teratomas.
- Genetic analysis revealed 19 shared somatic mutations among the tumor components, with several mutations found in known cancer-related genes, suggesting a potential pathway for the progression of MNT transformation and underscoring the need for
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- - Age-related diseases pose significant challenges in developed countries, prompting the need for pharmaceutical solutions and suitable animal models to study aging processes and evaluate potential treatments.
- - Current mouse models fail to consistently replicate human age-related diseases such as osteoporosis, cognitive issues, or sarcopenia, which complicates research in this area.
- - The study highlights Dicer-deficient mice that demonstrate premature aging symptoms across various organs, revealing important pathways through the molecular analysis of adipose tissue that could offer insights for reversing these aging effects.
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- The study explores the unknown factors driving severe COVID-19 by examining a young patient cohort without major comorbidities, comparing critical and non-critical cases.
- Researchers used advanced techniques like whole-genome sequencing and artificial intelligence to analyze biological samples and found significant inflammatory responses and immune system alterations in critical patients.
- A specific gene signature was identified that distinguished critical cases and indicated that inhibiting the ADAM9 gene could reduce SARS-CoV-2 infection and replication, suggesting potential therapeutic options.
The Nck-associated protein 1-like (NCKAP1L) gene, alternatively called hematopoietic protein 1 (HEM-1), encodes a hematopoietic lineage-specific regulator of the actin cytoskeleton. Nckap1l-deficient mice have anomalies in lymphocyte development, phagocytosis, and neutrophil migration. Here we report, for the first time, NCKAP1L deficiency cases in humans.
View Article and Find Full Text PDFImportance: Movement disorders are characterized by a marked genotypic and phenotypic heterogeneity, complicating diagnostic work in clinical practice and molecular diagnosis.
Objective: To develop and evaluate a targeted sequencing approach using a customized panel of genes involved in movement disorders.
Design, Setting And Participants: We selected 127 genes associated with movement disorders to create a customized enrichment in solution capture array.
Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown. Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay. Cellular and expression data showed sensitivity of PNH-associated mutants to proteasome degradation.
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