Accès ouvert
2026
article
OpenAlex
Nikolaos T. Skenteris, Elisa Luttermann, Sanjana Nair, Ioannis Evangelakos et autres
With the increasing use of genetic sequencing to investigate inborn errors of immunity, rare variants are frequently identified, yet their clinical relevance often remains uncertain. Establishing pathogenicity requires a multidisciplinary approach that integrates genetic, structural, functional, and clinical data. Here, we used …
de, sk, hr, es, cz, nl
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Accès ouvert
2026
article
OpenAlex
Nikolaos T. Skenteris, Elisa Luttermann, Sanjana Nair, Ioannis Evangelakos et autres
With the increasing use of genetic sequencing to investigate inborn errors of immunity, rare variants are frequently identified, yet their clinical relevance often remains uncertain. Establishing pathogenicity requires a multidisciplinary approach that integrates genetic, structural, functional, and clinical data. Here, we used …
de
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Jan Czogalla, Fabian Hausmann, Simon Lagies, Sydney E. Gies et autres
Normothermic machine perfusion (NMP) has become a valuable tool to expand the pool of transplantable organs. However, the application of NMP to kidneys presents substantial challenges, mostly due to high variability in the composition of currently used perfusion solutions. Here, we provide …
de, us, jp, it, nl, dk
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Accès ouvert
2025
article
OpenAlex
Annika Bea, Helena Fehling, Fabian Hausmann, Melanie Lütkemeyer et autres
Sex-based differences in the immune system influence the clinical course of infectious diseases, including many parasitic infections. Field studies of human infections and controlled experimental rodent models have shown that certain clinical forms of leishmaniasis occur more frequently in males. Leishmania parasites …
de
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Accès ouvert
2025
article
OpenAlex
Michaela Fuchs, Emily J. Burke, Nejla Latic, Susan Murray et autres
Chronic kidney disease (CKD) is a global health epidemic that greatly increases mortality due to cardiovascular disease. Left ventricular hypertrophy (LVH) is an important mechanism of cardiac injury in CKD. High serum levels of fibroblast growth factor (FGF) 23 in patients with …
us, de, at
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Accès ouvert
2024
article
OpenAlex
Svenja Kristin Tetzlaff, Ekin Reyhan, Nikolas Layer, C. Peter Bengtson et autres
Glioblastomas are invasive brain tumors with high therapeutic resistance. Neuron-to-glioma synapses have been shown to promote glioblastoma progression. However, a characterization of tumor-connected neurons has been hampered by a lack of technologies. Here, we adapted retrograde tracing using rabies viruses to investigate …
de, us, ch, se
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Accès ouvert
2024
article
OpenAlex
Sydney E. Gies, Sonja Hänzelmann, Dominik Kylies, Moritz Lassé et autres
In this study, we addressed challenges in integrating clinically obtained kidney biopsies into everyday clinical routines. Using porcine kidneys, we evaluated preservation media (RNAlater and CellCover) versus snap freezing for multi-omics processing. Our analyses highlighted RNAlater's suitability for single-nucleus RNA sequencing, proteome …
de, dk
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2024
article
OpenAlex
Sydney E. Gies, Sonja Haenzelmann, Dominik Kylies, Moritz Lassé et autres
Background: Immediate processing of fresh kidney tissue obtained from needle biopsies is challenging in clinical routines. To address this, tissue samples can be harvested in (cryo-) preservative agents such as RNAlater (Rl) or CellCover (CC), that rapidly preserve the integrity of cellular …
de, us
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Accès ouvert
2024
article
OpenAlex
Lucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, Robin Khatri et autres
Amyotrophic lateral sclerosis (ALS) is a debilitating motor neuron disease and lacks effective disease-modifying treatments. This study utilizes a comprehensive multiomic approach to investigate the early and sex-specific molecular mechanisms underlying ALS. By analyzing the prefrontal cortex of 51 patients with sporadic …
de, it, fr, nl, ch, pl
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Accès ouvert
2024
article
OpenAlex
Richard Drexler, Robin Khatri, Thomas Sauvigny, Malte Mohme et autres
Neural-tumor interactions drive glioma growth as evidenced in preclinical models, but clinical validation is limited. We present an epigenetically defined neural signature of glioblastoma that independently predicts patients' survival. We use reference signatures of neural cells to deconvolve tumor DNA and classify …
de, us, ch
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Accès ouvert
2024
article
OpenAlex
Richard Drexler, Robin Khatri, Ulrich Schüller, Alicia Eckhardt et autres
The longitudinal transition of phenotypes is pivotal in glioblastoma treatment resistance and DNA methylation emerged as an important tool for classifying glioblastoma phenotypes. We aimed to characterize DNA methylation subclass heterogeneity during progression and assess its clinical impact. Matched tissues from 47 …
de, us
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Accès ouvert
2024
article
OpenAlex
Fabian Hausmann, Lucas Caldi Gomes, Sonja Hänzelmann, Robin Khatri et autres
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease, which still lacks effective disease-modifying therapies. Similar to other neurodegenerative disorders, such as Alzheimer and Parkinson disease, ALS pathology is presumed to propagate over time, originating from the motor cortex and …
de, fr, it, nl, ch
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