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Article
Open AccessObservation of a single protein by ultrafast X-ray diffraction
The idea of using ultrashort X-ray pulses to obtain images of single proteins frozen in time has fascinated and inspired many. It was one of the arguments for building X-ray free-electron lasers. According to ...
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Article
Open AccessThe Notch1 signaling pathway directly modulates the human RANKL-induced osteoclastogenesis
Notch signaling is an evolutionary conserved pathway with a key role in tissue homeostasis, differentiation and proliferation. It was reported that Notch1 receptor negatively regulates mouse osteoclast develop...
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Article
Open AccessMultiple-core-hole resonance spectroscopy with ultraintense X-ray pulses
Understanding the interaction of intense, femtosecond X-ray pulses with heavy atoms is crucial for gaining insights into the structure and dynamics of matter. One key aspect of nonlinear light–matter interacti...
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Article
Open AccessAPOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants
Mitochondrial dysfunction has pleiotropic effects and is frequently caused by mitochondrial DNA mutations. However, factors such as significant variability in clinical manifestations make interpreting the path...
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Article
Open AccessThe ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages
Mycobacterium tuberculosis (Mtb) is known to evade host immune responses and persist in macrophages for long periods. A mechanism that the host uses to combat Mtb is xenophagy, a selective form of autophagy that ...
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Open AccessPotassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis
The primary cilium is a non-motile sensory organelle that extends from the surface of most vertebrate cells and transduces signals regulating proliferation, differentiation, and migration. Primary cilia dysfun...
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Open AccessGhost-imaging-enhanced noninvasive spectral characterization of stochastic x-ray free-electron-laser pulses
High-intensity ultrashort X-ray free-electron laser (XFEL) pulses are revolutionizing the study of fundamental nonlinear x-ray matter interactions and coupled electronic and nuclear dynamics. To fully exploit ...
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Article
Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes
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Open AccessX-ray multiphoton-induced Coulomb explosion images complex single molecules
Following structural dynamics in real time is a fundamental goal towards a better understanding of chemical reactions. Recording snapshots of individual molecules with ultrashort exposure times is a key ingred...
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Article
Nociceptin/orphanin FQ opioid receptor (NOP) selective ligand MCOPPB links anxiolytic and senolytic effects
Accumulation of senescent cells may drive age-associated alterations and pathologies. Senolytics are promising therapeutics that can preferentially eliminate senescent cells. Here, we performed a high-throughp...
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Article
Generation and measurement of intense few-femtosecond superradiant extreme-ultraviolet free-electron laser pulses
Free-electron lasers producing ultrashort pulses with high peak power promise to extend ultrafast non-linear spectroscopic techniques into the extreme-ultraviolet–X-ray regime. Key aspects are the synchronizat...
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Article
Open AccessMining potentially actionable kinase gene fusions in cancer cell lines with the KuNG FU database
Inhibition of kinase gene fusions (KGFs) has proven successful in cancer treatment and continues to represent an attractive research area, due to kinase druggability and clinical validation. Indeed, literature...
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Article
Open AccessGenomic and physiological resilience in extreme environments are associated with a secure attachment style
Understanding individual capability to adjust to protracted confinement and isolation may inform adaptive plasticity and disease vulnerability/resilience, and may have long-term implications for operations req...
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Open AccessThe recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal ab...
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Article
Attosecond pulse sha** using a seeded free-electron laser
Attosecond pulses are central to the investigation of valence- and core-electron dynamics on their natural timescales1–3. The reproducible generation and characterization of attosecond waveforms has been demonstr...
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Article
Open AccessThe striatal-enriched protein Rhes is a critical modulator of cocaine-induced molecular and behavioral responses
Previous evidence pointed out a role for the striatal-enriched protein Rhes in modulating dopaminergic transmission. Based on the knowledge that cocaine induces both addiction and motor stimulation, through it...
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Open AccessHsa-miR-210-3p expression in breast cancer and its putative association with worse outcome in patients treated with Docetaxel
MicroRNA-210-3p is the most prominent hypoxia regulated microRNA, and it has been found significantly overexpressed in different human cancers. We performed the expression analysis of miR-210-3p in a retrospec...
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Open AccessDeficiency and haploinsufficiency of histone macroH2A1.1 in mice recapitulate hematopoietic defects of human myelodysplastic syndrome
Epigenetic regulation is important in hematopoiesis, but the involvement of histone variants is poorly understood. Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic stem cell (HSC) disorde...
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Article
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing
Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with autosomal dominant inheritance pattern. The diagnosis of MODY and its subtypes is based on genetic testing. Our aim was investig...
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Open AccessEphB2 stem-related and EphA2 progression-related miRNA-based networks in progressive stages of CRC evolution: clinical significance and potential miRNA drivers
EphB2 and EphA2 control stemness and differentiation in the intestinal mucosa, but the way they cooperate with the complex mechanisms underlying tumor heterogeneity and how they affect the therapeutic outcome ...
