276 research outputs found

    ZP1-Y262C mutation causes abnormal zona pellucida formation and female infertility in humans

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    Defective oocyte maturation is a common cause of female infertility. The loss of the zona pellucida (ZP) represents a specific condition of impaired oocyte maturation. The extracellular matrix known as the ZP envelops mammalian oocytes and preimplantation embryos, exerting significant influence on oogenesis, fertilization, and embryo implantation. However, the genetic factors leading to the loss of the ZP in oocytes are not well understood. This study focused on patients who underwent oocyte retrieval surgery after ovarian stimulation and were found to have abnormal oocyte maturation without the presence of the ZP. Ultrasonography was performed during the surgical procedure to evaluate follicle development. Peripheral blood samples from the patient were subjected to exome sequencing. Here, a novel, previously unreported heterozygous mutation in the ZP1 gene was identified. Within the ZP1 gene, we discovered a novel heterozygous mutation (ZP1 NM_207341.4:c.785A>G (p.Y262C)), specifically located in the trefoil domain. Bioinformatics comparisons further revealed conservation of the ZP1-Y262C mutation across different species. Model predictions of amino acid mutations on protein structure and cell immunofluorescence/western blot experiments collectively confirmed the detrimental effects of the ZP1-Y262C mutation on the function and expression of the ZP1 protein. The ZP1-Y262C mutation represents the novel mutation in the trefoil domain of the ZP1 protein, which is associated with defective oocyte maturation in humans. Our report enhances comprehension regarding the involvement of ZP-associated genes in female infertility and offers enriched understanding for the genetic diagnosis of this condition

    CROSS-STACK PREDICTIVE CONTROL FRAMEWORK FOR MULTICORE REAL-TIME APPLICATIONS

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    Many of the next generation applications in entertainment, human computer interaction, infrastructure, security and medical systems are computationally intensive, always-on, and have soft real time (SRT) requirements. While failure to meet deadlines is not catastrophic in SRT systems, missing deadlines can result in an unacceptable degradation in the quality of service (QoS). To ensure acceptable QoS under dynamically changing operating conditions such as changes in the workload, energy availability, and thermal constraints, systems are typically designed for worst case conditions. Unfortunately, such over-designing of systems increases costs and overall power consumption. In this dissertation we formulate the real-time task execution as a Multiple-Input, Single- Output (MISO) optimal control problem involving tracking a desired system utilization set point with control inputs derived from across the computing stack. We assume that an arbitrary number of SRT tasks may join and leave the system at arbitrary times. The tasks are scheduled on multiple cores by a dynamic priority multiprocessor scheduling algorithm. We use a model predictive controller (MPC) to realize optimal control. MPCs are easy to tune, can handle multiple control variables, and constraints on both the dependent and independent variables. We experimentally demonstrate the operation of our controller on a video encoder application and a computer vision application executing on a dual socket quadcore Xeon processor with a total of 8 processing cores. We establish that the use of DVFS and application quality as control variables enables operation at a lower power op- erating point while meeting real-time constraints as compared to non cross-stack control approaches. We also evaluate the role of scheduling algorithms in the control of homo- geneous and heterogeneous workloads. Additionally, we propose a novel adaptive control technique for time-varying workloads

    Oocyte stage-specific effects of MTOR determine granulosa cell fate and oocyte quality in mice.

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    MTOR (mechanistic target of rapamycin) is a widely recognized integrator of signals and pathways key for cellular metabolism, proliferation, and differentiation. Here we show that conditional knockout (cKO) of Mtor in either primordial or growing oocytes caused infertility but differentially affected oocyte quality, granulosa cell fate, and follicular development. cKO of Mtor in nongrowing primordial oocytes caused defective follicular development leading to progressive degeneration of oocytes and loss of granulosa cell identity coincident with the acquisition of immature Sertoli cell-like characteristics. Although Mtor was deleted at the primordial oocyte stage, DNA damage accumulated in oocytes during their later growth, and there was a marked alteration of the transcriptome in the few oocytes that achieved the fully grown stage. Although oocyte quality and fertility were also compromised when Mtor was deleted after oocytes had begun to grow, these occurred without overtly affecting folliculogenesis or the oocyte transcriptome. Nevertheless, there was a significant change in a cohort of proteins in mature oocytes. In particular, down-regulation of PRC1 (protein regulator of cytokinesis 1) impaired completion of the first meiotic division. Therefore, MTOR-dependent pathways in primordial or growing oocytes differentially affected downstream processes including follicular development, sex-specific identity of early granulosa cells, maintenance of oocyte genome integrity, oocyte gene expression, meiosis, and preimplantation developmental competence. Proc Natl Acad Sci U S A 2018 Jun 5; 115(23):E5326-E5333

    Search for the decay J/ψ→γ+invisibleJ/\psi\to\gamma + \rm {invisible}

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    We search for J/ψJ/\psi radiative decays into a weakly interacting neutral particle, namely an invisible particle, using the J/ψJ/\psi produced through the process ψ(3686)→π+π−J/ψ\psi(3686)\to\pi^+\pi^-J/\psi in a data sample of (448.1±2.9)×106(448.1\pm2.9)\times 10^6 ψ(3686)\psi(3686) decays collected by the BESIII detector at BEPCII. No significant signal is observed. Using a modified frequentist method, upper limits on the branching fractions are set under different assumptions of invisible particle masses up to 1.2  GeV/c2\mathrm{\ Ge\kern -0.1em V}/c^2. The upper limit corresponding to an invisible particle with zero mass is 7.0×10−7\times 10^{-7} at the 90\% confidence level

    6G Network AI Architecture for Everyone-Centric Customized Services

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    Mobile communication standards were developed for enhancing transmission and network performance by using more radio resources and improving spectrum and energy efficiency. How to effectively address diverse user requirements and guarantee everyone's Quality of Experience (QoE) remains an open problem. The Sixth Generation (6G) mobile systems will solve this problem by utilizing heterogenous network resources and pervasive intelligence to support everyone-centric customized services anywhere and anytime. In this article, we first coin the concept of Service Requirement Zone (SRZ) on the user side to characterize and visualize the integrated service requirements and preferences of specific tasks of individual users. On the system side, we further introduce the concept of User Satisfaction Ratio (USR) to evaluate the system's overall service ability of satisfying a variety of tasks with different SRZs. Then, we propose a network Artificial Intelligence (AI) architecture with integrated network resources and pervasive AI capabilities for supporting customized services with guaranteed QoEs. Finally, extensive simulations show that the proposed network AI architecture can consistently offer a higher USR performance than the cloud AI and edge AI architectures with respect to different task scheduling algorithms, random service requirements, and dynamic network conditions

    Search for the reaction e+e−→χcJπ+π− and a charmoniumlike structure decaying to χcJπ± between 4.18 and 4.60 GeV

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    We search for the process e+e-→χcJπ+π- (J=0, 1, 2) and for a charged charmoniumlike state in the χcJπ± subsystem. The search uses datasets collected with the BESIII detector at the BEPCII storage ring at center-of-mass energies between 4.18 GeV and 4.60 GeV. No significant χcJπ+π- signals are observed at any center-of-mass energy, and thus upper limits are provided which also serve as limits for a possible charmoniumlike structure in the invariant χcJπ± mass
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