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261.
Maja?von der Hagen Julia?B.?Hennermann Horst?von Bernuth Birgit?Spors Angela?M.?KaindlEmail author 《Medizinische Genetik》2016,28(1):1-14
Microcephaly affects 2–3?% of the population and is often associated with intellectual disability. The underlying reduction in brain volume can result from various exogenous factors or genetic causes. Microcephaly remains a poorly defined condition lacking both uniform diagnostic approaches and classification. A definite etiological diagnosis is the key to predict the prognosis, identify co-morbidities and offer genetic counseling. In addition, the identification of the underlying cause increases our knowledge of brain development and the clinical spectrum of microcephaly. We propose a diagnostic approach for children with microcephaly from a pediatric neurologist point of view. 相似文献
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Hennigs Jan K. Lüneburg Nicole Stage Annett Schmitz Melanie Körbelin Jakob Harbaum Lars Matuszcak Christiane Mienert Julia Bokemeyer Carsten Böger Rainer H. Kiefmann Rainer Klose Hans 《Purinergic signalling》2019,15(3):299-311
Purinergic Signalling - Dysfunction of the pulmonary endothelium is associated with most lung diseases. Extracellular nucleotides modulate a plethora of endothelial functions in the lung such as... 相似文献
264.
Dominik Wüllner Annika Haupt Pascal Prochnow Roman Leontiev Alan J. Slusarenko Julia E. Bandow 《Proteomics》2019,19(24)
Allicin, a broad‐spectrum antimicrobial agent from garlic, disrupts thiol and redox homeostasis, proteostasis, and cell membrane integrity. Since medicine demands antimicrobials with so far unexploited mechanisms, allicin is a promising lead structure. While progress is being made in unraveling its mode of action, little is known on bacterial adaptation strategies. Some isolates of Pseudomonas aeruginosa and Escherichia coli withstand exposure to high allicin concentrations due to as yet unknown mechanisms. To elucidate resistance and sensitivity‐conferring cellular processes, the acute proteomic responses of a resistant P. aeruginosa strain and the sensitive species Bacillus subtilis are compared to the published proteomic response of E. coli to allicin treatment. The cellular defense strategies share functional features: proteins involved in translation and maintenance of protein quality, redox homeostasis, and cell envelope modification are upregulated. In both Gram‐negative species, protein synthesis of the majority of proteins is downregulated while the Gram‐positive B. subtilis responded by upregulation of multiple regulons. A comparison of the B. subtilis proteomic response to a library of responses to antibiotic treatment reveals 30 proteins specifically upregulated by allicin. Upregulated oxidative stress proteins are shared with nitrofurantoin and diamide. Microscopy‐based assays further indicate that in B. subtilis cell wall integrity is impaired. 相似文献
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Julia I. Deitz Pran K. Paul Rouin Farshchi Dmitry Poplavskyy Jeff Bailey Aaron R. Arehart David W. McComb Tyler J. Grassman 《Liver Transplantation》2019,9(35)
A new experimental framework for the characterization of defects in semiconductors is demonstrated. Through the direct, energy‐resolved correlation of three analytical techniques spanning six orders of magnitude in spatial resolution, a critical mid‐bandgap electronic trap level (EV + 0.56 eV) within Ag0.2Cu0.8In1?xGaxSe2 is traced to its nanoscale physical location and chemical source. This is achieved through a stepwise, site‐specific correlated characterization workflow consisting of device‐scale (≈1 mm2) deep level transient spectroscopy (DLTS) to survey the traps present, scanning probe–based DLTS (scanning‐DLTS) for mesoscale‐resolved (hundreds of nanometers) mapping of the target trap state's spatial distribution, and scanning transmission electron microscope based electron energy‐loss spectroscopy (STEM‐EELS) and X‐ray energy‐dispersive spectroscopy for nanoscale energy‐, structure, and chemical‐resolved investigation of the defect source. This first demonstration of the direct observation of sub‐bandgap defect levels via STEM‐EELS, combined with the DLTS methods, provides strong evidence that the long‐suspected CuIn/Ga substitutional defects are indeed the most likely source of the EV + 0.56 eV trap state and serves as a key example of this approach for the fundamental identification of defects within semiconductors, in general. 相似文献
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Robert Marianne Calderwood Julia Radford Zachary Catchpole Tom Reid David G. Pawlowski Lionel 《Reviews in Fish Biology and Fisheries》2019,29(4):917-934
Reviews in Fish Biology and Fisheries - Since 2015, the European Union gradually implemented the landing obligation (LO). This prohibits at-sea discarding of species under total allowable catch... 相似文献
269.
Claudia Eichenberger Silke Oeljeklaus Julia Bruggisser Jan Mani Beat Haenni Iosif Kaurov Moritz Niemann Benoît Zuber Julius Luke Hassan Hashimi Bettina Warscheid Bernd Schimanski Andr Schneider 《Molecular microbiology》2019,112(6):1731-1743
The mitochondrial contact site and cristae organization system (MICOS) mediates the formation of cristae, invaginations in the mitochondrial inner membrane. The highly diverged MICOS complex of the parasitic protist Trypanosoma brucei consists of nine subunits. Except for two Mic10‐like and a Mic60‐like protein, all subunits are specific for kinetoplastids. Here, we determined on a proteome‐wide scale how ablation of individual MICOS subunits affects the levels of the other subunits. The results reveal co‐regulation of TbMic10‐1, TbMic10‐2, TbMic16 and TbMic60, suggesting that these nonessential, integral inner membrane proteins form an interdependent network. Moreover, the ablation of TbMic34 and TbMic32 reveals another network consisting of the essential, intermembrane space‐localized TbMic20, TbMic32, TbMic34 and TbMic40, all of which are peripherally associated with the inner membrane. The downregulation of TbMic20, TbMic32 and TbMic34 also interferes with mitochondrial protein import and reduces the size of the TbMic10‐containing complexes. Thus, the diverged MICOS of trypanosomes contains two subcomplexes: a nonessential membrane‐integrated one, organized around the conserved Mic10 and Mic60, that mediates cristae formation, and an essential membrane‐peripheral one consisting of four kinetoplastid‐specific subunits, that is required for import of intermembrane space proteins. 相似文献
270.
Passive acoustic monitoring can be used for many purposes including biodiversity and habitat assessments and studying the ecology of populations, communities and soundscapes. As such, acoustic recording devices are essential data collection tools for bioacousticians and soundscape ecologists. Currently available commercial options are typically expensive and limited to recording either ultrasonic or audible frequencies. Here, we present the AURITA (Audible and Ultrasonic Recording In TAndem) for the autonomous collection of both audible and ultrasonic acoustic data. This self-contained, modular unit combines the Solo, an open-source, Raspberry-Pi-based recorder and a commercially available bat recorder, the Peersonic RPA2, enabling it to capture sounds from 60 Hz to 192 kHz in WAV format. The configuration presented costs ~£350 (excluding memory cards and batteries) to produce and can be maintained and repaired in the field. Two nine-week field tests involving 12 AURITA units were conducted in 2016 and 2017 and confirmed their reliability, resulting in 34,093 h of audible data and 551 h of ultrasonic data; all units were retrieved successfully and intact. The AURITA proved to be reliable in the field and produced high-quality acoustic data, making it ideal for simultaneous monitoring in both audible and ultrasonic frequencies over continuous periods of time. 相似文献