ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve +26 more
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A method for measuring first glymphatic influx of a cerebrospinal fluid tracer in the human brain. [PDF]
Pripp AH +3 more
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Abstract Hyphal forms of human pathogenic fungi cause invasive disease in humans, but the hyphal response to antifungals is understudied. In the major fungal pathogens Aspergillus fumigatus and Candida albicans, we used microfluidic‐coupled, fluorescence‐mediated live‐cell imaging to capture the real‐time responses of fungal hyphae to clinical ...
D. D. Thomson +3 more
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Abstract Members of Bacillus cereus have been documented as important bacterial pathogens in aquaculture. However, scarce information is available on B. cereus isolates as causal pathogens of big‐belly seahorses Hippocampus abdominalis. In the present study, a B. cereus isolate (SH1), recovered from a disease outbreak on a seahorse farm, was identified
Chunlei Gai +7 more
wiley +1 more source
Antibiotic Susceptibility of <i>Nocardia</i> Clinical Isolates Collected from Chinese Patients - China, 2014-2024. [PDF]
Zhao P +5 more
europepmc +1 more source
ABSTRACT Introduction Antimicrobial resistance (AMR) poses a significant threat to both humans and animals. Zoonotic bacteria, such as Campylobacter, contribute to human infections and the spread of AMR, particularly through livestock, pets and wildlife. We investigated the prevalence, distribution and EUCAST ECOFF‐based wild‐type (WT) vs.
Aitor Garcia‐Vozmediano +8 more
wiley +1 more source
Abstract Novel wearable near‐infrared spectroscopy devices allow for a better understanding of muscle oxygenation kinetics during exercise. A muscle oxygen saturation (SmO2) plateau is often applied in the scientific literature, but clear criteria for its definition remain unestablished to date.
Tomasz Kowalski +6 more
wiley +1 more source
Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay. [PDF]
Qin J +10 more
europepmc +1 more source
The trajectories of bioelectrical impedance analysis-derived raw variables (phase angle and impedance ratio) in healthy Italian children and adolescents: a retrospective observational study. [PDF]
Ballarin G +5 more
europepmc +1 more source
Mechanisms of enhancer‐driven oncogene activation
Abstract An aggressive subtype of acute myeloid leukemia (AML) is caused by enhancer hijacking resulting in MECOM overexpression. Several chromosomal rearrangements can lead to this: the most common (inv(3)/t(3;3)) results in a hijacked GATA2 enhancer, and there are several atypical MECOM rearrangements involving enhancers from other hematopoietic ...
Joyce Vriend +2 more
wiley +1 more source

