28,454 research outputs found
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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification into ten tables. This phenotypic classification is user-friendly and serves as a resource for clinicians at the bedside. There are now 430 single-gene IEI underlying phenotypes as diverse as infection, malignancy, allergy, autoimmunity, and autoinflammation. We herein report the 2019 phenotypic classification, including the 65 new conditions. The diagnostic algorithms are based on clinical and laboratory phenotypes for each of the ten broad categories of IEI
Lifetimes of ultralong-range strontium Rydberg molecules in a dense BEC
The lifetimes and decay channels of ultralong-range Rydberg molecules created
in a dense BEC are examined by monitoring the time evolution of the Rydberg
population using field ionization. Studies of molecules with values of
principal quantum number, , in the range to that contain tens
to hundreds of ground state atoms within the Rydberg electron orbit show that
their presence leads to marked changes in the field ionization characteristics.
The Rydberg molecules have lifetimes of s, their destruction
being attributed to two main processes: formation of Sr ions through
associative ionization, and dissociation induced through -changing
collisions. The observed loss rates are consistent with a reaction model that
emphasizes the interaction between the Rydberg core ion and its nearest
neighbor ground-state atom. The measured lifetimes place strict limits on the
time scales over which studies involving Rydberg species in cold, dense atomic
gases can be undertaken and limit the coherence times for such measurements.Comment: 9 pages, 8 figure
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Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies, causing altered levels of compounds associated with these pathways. While IEMs may present with multiple overlapping symptoms and metabolites, early and accurate diagnosis of IEMs is critical for the long-term health of affected subjects. The prevalence of IEMs differs between countries, likely because different IEM classifications and IEM screening methods are used. Currently, newborn screening programs exclusively use targeted metabolic assays that focus on limited panels of compounds for selected IEM diseases. Such targeted approaches face the problem of false negative and false positive diagnoses that could be overcome if metabolic screening adopted analyses of a broader range of analytes. Hence, we here review the prospects of using untargeted metabolomics for IEM screening. Untargeted metabolomics and lipidomics do not rely on predefined target lists and can detect as many metabolites as possible in a sample, allowing to screen for many metabolic pathways simultaneously. Examples are given for nontargeted analyses of IEMs, and prospects and limitations of different metabolomics methods are discussed. We conclude that dedicated studies are needed to compare accuracy and robustness of targeted and untargeted methods with respect to widening the scope of IEM diagnostics
High Intrinsic Mobility and Ultrafast Carrier Dynamics in Multilayer Metal Dichalcogenide MoS2
The ultimate limitations on carrier mobilities in metal dichalcogenides, and
the dynamics associated with carrier relaxation, are unclear. We present
measurements of the frequency-dependent conductivity of multilayer
dichalcogenide MoS2 by optical-pump terahertz-probe spectroscopy. We find
mobilities in this material approaching 4200 cm2/Vs at low temperatures. The
temperature dependence of scattering indicates that the mobility, an order of
magnitude larger than previously reported for MoS2, is intrinsically limited by
acoustic phonon scattering at THz frequencies. Our measurements of carrier
relaxation reveal picosecond cooling times followed by recombination lasting
tens of nanoseconds and dominated by Auger scattering into defects. Our results
provide a useful context in which to understand and evaluate the performance of
MoS2-based electronic and optoelectronic devices.Comment: 13 pages, 8 figure
Entry by multiple picornaviruses is dependent on a pathway that includes TNK2, WASL, and NCK1
Comprehensive knowledge of the host factors required for picornavirus infection would facilitate antiviral development. Here we demonstrate roles for three human genes
The ribosome assembly gene network is controlled by the feedback regulation of transcription elongation
Ribosome assembly requires the concerted expression of hundreds of genes, which are transcribed by all three nuclear RNA polymerases. Transcription elongation involves dynamic interactions between RNA polymerases and chromatin. We performed a synthetic lethal screening in Saccharomyces cerevisiae with a conditional allele of SPT6, which encodes one of the factors that facilitates this process. Some of these synthetic mutants corresponded to factors that facilitate pre-rRNA processing and ribosome biogenesis. We found that the in vivo depletion of one of these factors, Arb1, activated transcription elongation in the set of genes involved directly in ribosome assembly. Under these depletion conditions, Spt6 was physically targeted to the upregulated genes, where it helped maintain their chromatin integrity and the synthesis of properly stable mRNAs. The mRNA profiles of a large set of ribosome biogenesismutants confirmed the existence of a feedback regulatory network among ribosome assembly genes. The transcriptional response in this network depended on both the specific malfunction and the role of the regulated gene. In accordance with our screening, Spt6 positively contributed to the optimal operation of this global network. On the whole, this work uncovers a feedback control of ribosome biogenesis by fine-tuning transcription elongation in ribosome assembly factor-coding genes.Ministerio de Economía y Competitividad BFU2013-48643-C3-1-P, BFU2016-77728-C3-1-P, BFU2013-48643-C3- 3-P, BFU2013-42958-PJunta de Andalucía P12-BIO1938MO, P08-CVI-03508Comunidad Valenciana 2015/00
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