3,428 research outputs found

    Phase separation during germline development

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    Phase separation has emerged as a new key principle of intracellular organization. Phase-separated structures play diverse roles in various biological processes and pathogenesis of protein aggregation diseases. Recent work has revealed crucial functions for phase separation during germline development. Phase separation controls the assembly and segregation of germ granules that determine which embryonic cells become germ cells. Phase separation promotes the formation of the Balbiani body, a structure that stores organelles and RNAs during the prolonged prophase arrest of oocytes. Phase separation also facilitates meiotic recombination that prepares homologous chromosomes for segregation, and drives the formation of a liquid-like spindle domain that promotes spindle assembly in mammalian oocytes. We review how phase separation drives these essential steps during germline development

    Heat treatment optimizations for Wind-and-React Bi-2212 racetrack coils

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    Lawrence Berkeley National Laboratory (LBNL) is developing Wind-and-React (W&R) Bi sr cacu o +δ (Bi-2212) accelerator magnet technology for insert coils, to surpass the intrinsic limitations of Nb-based magnets, and eventually develop hybrid systems that can approach 20 T dipole fields. The Bi-2212 technology is being developed in close collaboration with industry, and has been partly supported by the US Very High Field Superconducting Magnet Collaboration (VHFSMC). Steady improvements were made over the last several years, with coil HTS-SC08 reaching 2636 A, or about 85% of its witness sample critical current (Ic). Though this is still a factor 3 to 4 too low to be competitive with Nb-based materials, it is expected that the required Ic can be achieved through further conductor optimizations. Recent developments include the commissioning of infrastructure for the reaction of coils at LBNL. Earlier coils were fabricated and tested at LBNL, but were reacted at the wire manufacturer. We describe in detail the furnace calibrations and heat treatment optimizations that enable coil reactions at temperatures approaching 890 °C with a homogeneity of ± 1 °C in a pure oxygen flow. We reacted two new coils at LBNL, and tested the performance of coil HTS-SC10 at 4.2 K in self-field using a superconducting transformer system. We find that its performance is consistent with witness samples, and comparable to coil HTS-SC08, which is an identical coil that was reacted at Oxford Instruments Superconductor Technology (OST), thereby validating the in-house reaction process. 2 2 2

    One-Bit Covariance Reconstruction with Non-zero Thresholds: Algorithm and Performance Analysis

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    Covariance matrix reconstruction is a topic of great significance in the field of one-bit signal processing and has numerous practical applications. Despite its importance, the conventional arcsine law with zero threshold is incapable of recovering the diagonal elements of the covariance matrix. To address this limitation, recent studies have proposed the use of non-zero clipping thresholds. However, the relationship between the estimation error and the sampling threshold is not yet known. In this paper, we undertake an analysis of the mean squared error by computing the Fisher information matrix for a given threshold. Our results reveal that the optimal threshold can vary considerably, depending on the variances and correlation coefficients. As a result, it is inappropriate to use a constant threshold to encompass parameters that vary widely. To mitigate this issue, we present a recovery scheme that incorporates time-varying thresholds. Our approach differs from existing methods in that it utilizes the exact values of the threshold, rather than its statistical properties, to enhance the estimation performance. Our simulations, including the direction-of-arrival estimation problem, demonstrate the efficacy of the developed scheme, especially in complex scenarios where the covariance elements are widely separated

    Covariance matrix recovery from one-bit data with non-zero quantization thresholds: Algorithm and performance analysis

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    Covariance matrix recovery is a topic of great significance in the field of one-bit signal processing and has numerous practical applications. Despite its importance, the conventional arcsine law with zero threshold is incapable of recovering the diagonal elements of the covariance matrix. To address this limitation, recent studies have proposed the use of non-zero clipping thresholds. However, the relationship between the estimation error and the sampling threshold is not yet known. In this article, we undertake an analysis of the mean squared error by computing the Fisher information matrix for a given threshold. Our results reveal that the optimal threshold can vary considerably, depending on the variances and correlation coefficients. As a result, it is inappropriate to adopt a constant threshold to encompass parameters that vary widely. To mitigate this issue, we present a recovery scheme that incorporates time-varying thresholds. Our approach differs from existing methods in that it utilizes the exact values of the threshold, rather than its statistical properties, to increase the estimation accuracy. Simulation results, including those of the direction-of-arrival estimation problem, demonstrate the efficacy of the developed scheme, especially in complex scenarios where the covariance elements are widely separated.The work of Yu-Hang Xiao was supported in part by the National Natural Science Foundation of China under Grant 62201359. The work of Lei Huang was supported in part by the National Science Fund for Distinguished Young Scholars under Grant 61925108, and in part by the National Natural Science Foundation of China under Grant U1913221. The work of David Ramírez was supported in part by MCIN/AEI/10.13039/501100011033/FEDER, UE, under Grant PID2021-123182OB-I00 (EPiCENTER), and in part by the Office of Naval Research (ONR) Global under Contract N62909-23-1-2002.Publicad

    Sacral agenesis: a pilot whole exome sequencing and copy number study

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    Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and environmental factors. A well-known risk factor is maternal type 1 diabetes. Method: Whole exome sequencing and copy number variation (CNV) analyses were conducted on 4 Caucasian trios to identify de novo and inherited rare mutations. Results: In this pilot study, exome sequencing and copy number variation (CNV) analyses implicate a number of candidate genes, including SPTBN5, MORN1, ZNF330, CLTCL1 and PDZD2. De novo mutations were found in SPTBN5, MORN1 and ZNF330 and inherited predicted damaging mutations in PDZD2 (homozygous) and CLTCL1 (compound heterozygous). Importantly, predicted damaging mutations in PTEN (heterozygous), in its direct regulator GLTSCR2 (compound heterozygous) and in VANGL1 (heterozygous) were identified. These genes had previously been linked with the CRS phenotype. Two CNV deletions, one de novo (chr3q13.13) and one homozygous (chr8p23.2), were detected in one of our CRS patients. These deletions overlapped with CNVs previously reported in patients with similar phenotype. Conclusion: Despite the genetic diversity and the complexity of the phenotype, this pilot study identified genetic features common across CRS patients
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