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Background: Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood. Insufficiency of the ribosomal biogenesis gene treacle ribosome biogenesis factor 1(Tcof1) results in cranial NTDs and craniofacial malformations in mice. Here, we aimed to identify genetic association of TCOF1 with human NTDs. Methods: High‐throughput sequencing targeted on TCOF1 was performed on samples from 355 human cases affected by NTDs and 225 controls from a Han Chinese population. Results: Four novel missense variants were found in the NTD cohort. Cell‐based assays indicated that the p.(A491G) variant carried by an individual, who shows anencephaly and single‐nostril abnormality, attenuates production of total proteins, suggesting a loss‐of‐function mutation in ribosomal biogenesis. Importantly, this variant promotes nucleolar disruption and stabilizes p53 protein, highlighting an unbalancing effect on cell apoptosis. Conclusions: This study explored the functional impact of a missense variant in TCOF1, implicating a set of novel causative biological factors involved in the pathogenicity of human NTDs, particularly whom combined with craniofacial abnormality. [ABSTRACT FROM AUTHOR]

The spaceborne interferometric synthetic aperture radar (InSAR) with persistent scatterer (PS) is utilized to retrieve the spatial characteristics of the largest coseismic landslide Daguangbao, induced by the Ms 8.0 Wenchuan earthquake in Sichuan Province, China. The available twenty interferometric pairs with good coherence selected from the ALOS/PALSAR imagery data covering the Longmen Shan mountainous area are used in the study. We have constructed a natural geodetic observation network with numerous scattered bare rocks emerging after the earthquake and coseismic landslide events, which are effectively recognized as the radar persistent scattering objects. The spatial connections between adjacent PS are established to form observation baselines with differential parameters related to topography and deformation, which are determined by the least squares method from time-series interferometric phase analysis. The post-seismic topographic change relative to the pre-seismic over the landslide area is spatially mapped from the PS network adjustment solution. The quantitative estimation of local elevation change, mass sliding volume and deposit thickness associated with the landslide is conducted. The spatial pattern of mass movement suggests that the giant landslide is characterized by a major sliding length of 4350 m along the NE–SW directions with an extension width of 3400 m along the Huangdongzi gully, and a peak height change of 535 m in the vertical direction. The affected area of landslide mass movement reaches 7.2 km 2 with the volume up to 1.28 billion m 3 . The study also demonstrates the potential of persistent scatterer InSAR technique as an alternative to allow the quantitative measurement of mass wasting volume associated with earthquake-induced giant landslides. [ABSTRACT FROM AUTHOR]

The disruption of mitochondria homeostasis can impair the contractile function of cardiomyocytes, leading to cardiac dysfunction and an increased risk of heart failure. This study introduces a pioneering therapeutic strategy employing mitochondria derived from human umbilical cord mesenchymal stem cells (hu‐MSC) (MSC‐Mito) for heart failure treatment. Initially, we isolated MSC‐Mito, confirming their functionality. Subsequently, we monitored the process of single mitochondria transplantation into recipient cells and observed a time‐dependent uptake of mitochondria in vivo. Evidence of human‐specific mitochondrial DNA (mtDNA) in murine cardiomyocytes was observed after MSC‐Mito transplantation. Employing a doxorubicin (DOX)‐induced heart failure model, we demonstrated that MSC‐Mito transplantation could safeguard cardiac function and avert cardiomyocyte apoptosis, indicating metabolic compatibility between hu‐MSC‐derived mitochondria and recipient mitochondria. Finally, through RNA sequencing and validation experiments, we discovered that MSC‐Mito transplantation potentially exerted cardioprotection by reinstating ATP production and curtailing AMPKα‐mTOR‐mediated excessive autophagy. [ABSTRACT FROM AUTHOR]

Abstract: Reduction of carbon emissions of machine tools is an essential key to achieve low carbon manufacturing in various manufacturing system environments. To achieve this, the first step is to devise methods to understand and characterize the carbon emissions of machine tools. A carbon efficiency approach is presented to quantitatively characterize the life-cycle carbon emissions of machine tools, in which carbon efficiency is defined as the ratio of capacity or service value provided by machine tool to the corresponding carbon emissions. The life-cycle carbon emissions include two categories, fixed emissions and varied emissions which closely relate the throughput and operation time of machine tools. The dynamic characteristics of varied emissions are analyzed with the carbon efficiency functions of production rate, material remove volume, and economic return accordingly. The case study shows that light weight design and remanufacturing can reduce fixed emissions, and varied emissions can be reduced by improving energy efficiency and making the best matching of equipments and production tasks. [Copyright &y& Elsevier]

The Daguangbao mega-landslide (China), induced by the 2008 Wenchuan earthquake (M w = 7.9), with an area of approximately 8 km 2 , is one of the largest landslides in the world. Experts predicted that the potential risk and instability of the landslide might remain for many decades, or even longer. Monitoring the activity of such a large landslide is hence critical. Terrain Observation by Progressive Scans (TOPS) mode from the Sentinel-1 satellite provides us with up-to-date high-quality Synthetic Aperture Radar (SAR) images over a wide ground coverage (250 × 250 km), enabling full exploitation of various InSAR applications. However, the TOPS mode introduces azimuth-dependent Doppler variations to radar signals, which requires an additional processing step especially for SAR interferometry. Sentinel-1 TOPS data have been widely applied to earthquakes, but the performance of TOPS data-based time series analysis requires further exploitation. In this study, Sentinel-1 TOPS data were employed to investigate landslide post-seismic activities for the first time. To deal with the azimuth-dependent Doppler variations, a processing chain of TOPS time series interferometry approach was developed. Since the Daguangbao landslide is as a result of the collapse of a whole mountain caused by the 2008 Mw 7.9 Wenchuan earthquake, the existing Digital Elevation Models (DEMs, e.g. SRTM and ASTER) exhibit height differences of up to approximately 500 m. Tandem-X images acquired after the earthquake were used to generate a high resolution post-seismic DEM. The high gradient topographic errors of the SRTM DEM (i.e. the differences between the pre-seismic SRTM and the actual post-seismic elevation), together with low coherence in mountainous areas make it difficult to derive a precise DEM using the traditional InSAR processing procedure. A re-flattening iterative method was hence developed to generate a precise TanDEM-X DEM in this study. The volume of the coseismic Daguangbao landslide was estimated to be of 1.189 ± 0.110 × 10 9 m 3 by comparing the postseismic Tandem-X DEM with the preseismic SRTM DEM, which is consistent with the engineering geological survey result. The time-series results from Sentinel-1 show that some sectors of the Daguangbao landslide are still active (and displaying four sliding zones) and exhibiting a maximum displacement rate of 8 cm/year, even eight years after the Wenchuan earthquake. The good performance of TOPS in this time series analysis indicates that up-to-date high-quality TOPS data with spatiotemporal baselines offer significant potential in terms of future InSAR applications. [ABSTRACT FROM AUTHOR]