A Rare Case of Severe Congenital RYR1-Associated Myopathy by Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta

“…The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13.2 and encodes the skeletal muscle isoform of a calcium-release channel in the sarcoplasmic reticulum (RyR1). …”
Get full text

Unrolled Optimization via Physics-Assisted Convolutional Neural Network for MR-Based Electrical Properties Tomography: A Numerical Investigation by Sabrina Zumbo, Stefano Mandija, Ettore F. Meliado, Peter Stijnman, Thierry G. Meerbothe, Cornelis A.T. van den Berg, Tommaso Isernia, Martina T. Bevacqua

“…Each network takes in input the EPs and the gradient descent direction (encoding the physics underlying the adopted scattering model) and returns as output the updated contrast function. …”
Get full text

(Pro)renin Receptor in Kidney Development and Disease by Renfang Song, Ihor V. Yosypiv

“…Moreover, mutations in the genes encoding components of the RAS in mice or humans are associated with a broad spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). …”
Get full text

A ROM-Less Direct Digital Frequency Synthesizer Based on Hybrid Polynomial Approximation by Qahtan Khalaf Omran, Mohammad Tariqul Islam, Norbahiah Misran, Mohammad Rashed Iqbal Faruque

“…The invented direct digital frequency synthesizer (DDFS) has been encoded in VHDL and post simulation was carried out. …”
Get full text

Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60 by Lisa Rizzetto, Elena Zanni, Daniela Uccelletti, Ileana Ferrero, Paola Goffrini

“…We identified the unique hexokinase, encoded by RAG5 gene, as an important player in influencing yeast lifespan by modulating mitochondrial functionality and the level of the mitochondrial chaperonin Hsp60. …”
Get full text

Pulmonary Alveolar Microlithiasis: A Unique Case of Familial PAM Complicated by Transplant Rejection by Austin Helmink, Samir Atiya, Ernesto Martinez Duarte

“…PAM is a rare lung disease caused by a mutation in the SLC34A2 gene, which encodes for a sodium-phosphate cotransporter in type II alveolar cells, leading to accumulation of intra-alveolar phosphate causing microlith formation. …”
Get full text

Development of algorithm for receiving and decoding input signal using MTD decoder for subscriber terminals operating with low-orbit spacecraft by D. P. Sedunov, A. S. Zhunusova

“…The purpose of the article is to develop an algorithm for encoding and decoding the input signal using a multithreshold decoder (MTD) of rigid solutions for subscriber terminals operating with low-orbit spacecraft (NCA), and its comparison with a conventional PC decoder «Messi». …”
Get full text

Higher-Order Iterative Learning Control with Optimal Control Gains Based on Evolutionary Algorithm for Nonlinear System by Yun-Shan Wei, Xiaofen Yang, Wenli Shang, Ying-Yu Chen

“…To optimize the control gains in HOILC approach, EA is introduced. The encoding strategy, population initialization, and fitness function in EA are designed according to the HOILC characteristics. …”
Get full text

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing by Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W. Scherer, Chaim M. Roifman

“…A novel homozygous 8kb deletion in PTCRA, encoding pTCRα, was identified. To date, use of WGS remains restricted and for many geographical regions, is clinically unavailable.…”
Get full text

T-cell receptor beta variable gene polymorphism predicts immune-related adverse events during checkpoint blockade immunotherapy by Linghua Wang, Siqing Fu, Aung Naing, Funda Meric-Bernstam, Carl Morrison, Joud Hajjar, Mingxuan Xu, Anas Alshawa, Bettzy Stephen, Ying Yuan, Jordi Rodon Ahnert, Abdulrazzak Zarifa, Shrutii Sarda, Timothy Looney, Sapna P Patel, Geoffrey M Lowman, Dzifa Yawa Duose, Jeffrey M Conroy, Evan Kwiatkowski

“…We employed multiplex PCR to create amplicons spanning the three beta chain complementarity-determining regions (CDR) regions to enable detection of polymorphism within the germline-encoded framework and CDR1 and CDR2 regions in addition to CDR3 profiling. …”
Get full text

A Hybrid Model for Soybean Yield Prediction Integrating Convolutional Neural Networks, Recurrent Neural Networks, and Graph Convolutional Networks by Vikram S. Ingole, Ujwala A. Kshirsagar, Vikash Singh, Manish Varun Yadav, Bipin Krishna, Roshan Kumar

“…Additionally, we introduce other improved model architectures: a custom UNet with attention mechanisms, Heterogeneous Graph Neural Networks (HGNNs), and Variational Auto-encoders. The attention mechanism enables more effective spatial feature encoding by focusing on critical image regions, while the HGNN captures interaction patterns that are complex between diverse data types. …”
Get full text

FBMC vs. PAM and DMT for High-Speed Wireline Communication by Jeremy Cosson-Martin, Jhoan Salinas, Hossein Shakiba, Ali Sheikholeslami

“…This paper demonstrates the first silicon-verified FBMC encoder and decoder designed to emulate beyond <inline-formula> <tex-math notation="LaTeX">$224Gb/s$ </tex-math></inline-formula> wireline communication. …”
Get full text

Multi-Class Guided GAN for Remote-Sensing Image Synthesis Based on Semantic Labels by Zhenye Niu, Yuxia Li, Yushu Gong, Bowei Zhang, Yuan He, Jinglin Zhang, Mengyu Tian, Lei He

“…To integrate these generators, we design a shared-parameter encoder for consistent feature encoding across two branches, and a spatial decoder that synthesizes outputs from the class generators, preventing overlap and confusion. …”
Get full text

Transcriptome Analysis Reveals Key Genes Involved in the Response of <i>Triticum urartu</i> to Boron Toxicity Stress by Gul Sema Uyar, Anamika Pandey, Mehmet Hamurcu, Tomas Vyhnanek, Mustafa Harmankaya, Ali Topal, Sait Gezgin, Mohd. Kamran Khan

“…While key upregulated genes included those encoding RNA polymerase beta subunit (chloroplast), ATP synthase subunit gamma, chloroplastic, 60S ribosomal protein, and RNA-binding protein 12-like, the main downregulated genes included those encoding photosystem II protein D, ribulose bisphosphate carboxylase small subunit, and peroxidase 2-like. …”
Get full text

A gut-derived Streptococcus salivarius produces the novel nisin variant designated nisin G and inhibits Fusobacterium nucleatum in a model of the human distal colon microbiome by Garreth W. Lawrence, Enriqueta Garcia-Gutierrez, A. Kate O’Mahony, Calum J. Walsh, Paula M. O'Connor, Máire Begley, Caitriona M. Guinane, Paul D. Cotter

“…The nisin G gene cluster consists of nsgGEFABTCPRK with transposases encoded between the nisin G structural gene (nsgA) and nsgF, notably lacking an equivalent to the nisI immunity determinant. …”
Get full text

Flexibilité vocale sous influences sociales chez les primates non-humains by Hélène Bouchet, Marion Laporte, Agnès Candiotti, Alban Lemasson

“…First, a multi-level approach (sound unit, call type, vocal sequence) of the structure of vocal repertoire reveals a flexible organization which enables a complex encoding of messages in vocal signals. Then, the analysis of the social context of communicative interaction demonstrates its role in the emergence of vocal flexibility in juveniles and adults, both in terms of production and usage. …”
Get full text

Optimal Allocation and Control of Magnetorheological Dampers for Enhancing Seismic Performance of the Adjacent Structures Using Whale Optimization Algorithm by Xiufang Lin, Weiqing Lin

“…In this control strategy, to fully exploit the performance of MR dampers, the allocation (including the locations and the number) and fuzzy logic controller (FLC) system of MR dampers are simultaneously optimally designed by whale optimization algorithm (WOA) with a special encoding scheme. Simulation results verify that WOA provides competitive performance compared with the other three metaheuristic algorithms in terms of solution quality and robustness. …”
Get full text

A New Countermeasure against Brute-Force Attacks That Use High Performance Computers for Big Data Analysis by Hyun-Ju Jo, Ji Won Yoon

“…Both methods look different; however, they have similar security goals and they both feature distribution transforming encoders based on statistical schemes. We unify them into a statistical code scheme in this study. …”
Get full text

Dispersive nodal fermions along grain boundaries in Floquet topological crystals by Daniel J. Salib, Bitan Roy

“…Dynamic bulk-boundary correspondence, encoded by nondissipative gapless modes residing near the Floquet zone center and/or boundaries, is its most prominent example. …”
Get full text

Understanding the Pathogenesis of Angelman Syndrome through Animal Models by Nihar Ranjan Jana

“…The disease is primarily caused by deletion or loss-of-function mutations of the maternally inherited UBE3A gene located within chromosome 15q11-q13. The UBE3A gene encodes a 100 kDa protein that functions as ubiquitin ligase and transcriptional coactivator. …”
Get full text