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JOURNAL ARTICLE
Weiqi Hong, Hong Lei, Dandan Peng, Yuhe Huang, Cai He, Jingyun Yang, Yanan Zhou, Jian Liu, Xiangyu Pan, Haiying Que, Aqu Alu, Li Chen, Jiayuan Ai, Furong Qin, Binhan Wang, Danyi Ao, Zhen Zeng, Ying Hao, Yu Zhang, Xiya Huang, Chunjun Ye, MinYang Fu, Xuemei He, Zhenfei Bi, Xuejiao Han, Min Luo, Hongbo Hu, Wei Cheng, Haohao Dong, Jian Lei, Lu Chen, Xikun Zhou, Wei Wang, Guangwen Lu, Guobo Shen, Li Yang, Jinliang Yang, Jiong Li, Zhenling Wang, Xiangrong Song, Qiangming Sun, Shuaiyao Lu, Youchun Wang, Ping Cheng, Xiawei Wei
Urgent research into innovative severe acute respiratory coronavirus-2 (SARS-CoV-2) vaccines that may successfully prevent various emerging emerged variants, particularly the Omicron variant and its subvariants, is necessary. Here, we designed a chimeric adenovirus-vectored vaccine named Ad5-Beta/Delta. This vaccine was created by incorporating the receptor-binding domain from the Delta variant, which has the L452R and T478K mutations, into the complete spike protein of the Beta variant. Both intramuscular (IM) and intranasal (IN) vaccination with Ad5-Beta/Deta vaccine induced robust broad-spectrum neutralization against Omicron BA...
May 2024: MedComm
#2
JOURNAL ARTICLE
Doriana Misceo, Petter Strømme, Fatemeh Bitarafan, Maninder Singh Chawla, Ying Sheng, Sandra Monica Bach de Courtade, Lars Eide, Eirik Frengen
Oxidative phosphorylation involves a complex multi-enzymatic mitochondrial machinery critical for proper functioning of the cell, and defects herein cause a wide range of diseases called "primary mitochondrial disorders" (PMDs). Mutations in about 400 nuclear and 37 mitochondrial genes have been documented to cause PMDs, which have an estimated birth prevalence of 1:5000. Here, we describe a 4-year-old female presenting from early childhood with psychomotor delay and white matter signal changes affecting several brain regions, including the brainstem, in addition to lactic and phytanic acidosis, compatible with Leigh syndrome, a genetically heterogeneous subgroup of PMDs...
April 17, 2024: Genes
#3
Navneet Matharu, Jingjing Zhao, Ajuni Sohota, Linbei Deng, Yan Hung, Zizheng Li, Jasmine Sims, Sawitree Rattanasopha, Josh Meyer, Lucia Carbone, Martin Kircher, Nadav Ahituv
The human genome contains millions of retrotransposons, several of which could become active due to somatic mutations having phenotypic consequences, including disease. However, it is not thoroughly understood how nucleotide changes in retrotransposons affect their jumping activity. Here, we developed a novel massively parallel jumping assay (MPJA) that can test the jumping potential of thousands of transposons en masse . We generated nucleotide variant library of selected four Alu retrotransposons containing 165,087 different haplotypes and tested them for their jumping ability using MPJA...
April 19, 2024: bioRxiv
#4
JOURNAL ARTICLE
Eva Morales, María Teresa Prieto-Sánchez, Jaime Mendiola, Ana Cutillas-Tolín, Evdochia Adoamnei, Desirée Valera-Gran, Carmen Martínez-Graciá, Marina Santaella-Pascual, Clara Suárez-Martinez, Jesús Vioque, María Jesús Castaños, Eva Del Castillo, Luis García-Marcos
BACKGROUND & AIMS: Prenatal folate exposure may alter epigenetic marks in the offspring. We aimed to evaluate associations between prenatal exposure to folic acid (FA) in preconception and in utero with cord blood DNA methylation in long interspersed nuclear element 1 (LINE-1) and Alu short interspersed nuclear elements (SINEs) as markers of global DNA methylation levels. METHODS: Data come from 325 mother-child pairs participating in the Nutrition in Early Life and Asthma (NELA) birth cohort (2015-2018)...
April 16, 2024: Clinical Nutrition
#5
JOURNAL ARTICLE
Yamuna Paudel, Diego J Chachayma-Farfan, Andrea Alù, Matthew Y Sfeir
Heterogeneous photocatalysis is an important research problem relevant to a variety of sustainable energy technologies. However, obtaining high photocatalytic efficiency from visible light absorbing semiconductors is challenging due to a combination of weak absorption, transport losses, and low activity. Aspects of this problem have been addressed by multilayer approaches, which provide a general scheme for engineering surface reactivity and stability independent of electronic considerations. However, an analogous broad framework for optimizing light-matter interactions has not yet been demonstrated...
April 14, 2024: Journal of Chemical Physics
#6
JOURNAL ARTICLE
Joshua Laß, Theresa Lüth, Kathleen Schlüter, Susen Schaake, Björn-Hergen Laabs, Christoph Much, Roland Dominic Jamora, Raymond L Rosales, Gerard Saranza, Cid Czarina E Diesta, Christopher E Pearson, Inke R König, Norbert Brüggemann, Christine Klein, Ana Westenberger, Joanne Trinh
BACKGROUND: X-Linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by rapidly progressive dystonia and parkinsonism. Mosaic Divergent Repeat Interruptions affecting motif Length and Sequence (mDRILS) were recently found within the TAF1 SVA repeat tract and were shown to associate with repeat stability and age at onset in XDP, specifically the AGGG [5'-SINE-VNTR-Alu(AGAGGG)2 AGGG(AGAGGG)n ] mDRILS. OBJECTIVE: This study aimed to investigate the stability of mDRILS frequencies and stability of (AGAGGG)n repeat length during transmission in parent-offspring pairs...
April 14, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
#7
JOURNAL ARTICLE
Kailing Tu, Xuemei Li, Qilin Zhang, Wei Huang, Dan Xie
MOTIVATION: Identifying chromatin accessibility is one of the key steps in studying the regulation of eukaryotic genomes. The combination of exogenous methyltransferase and nanopore sequencing provides an strategy to identify open chromatin over long genomic ranges at the single-molecule scale. However, endogenous methylation, non-open-chromatin-specific exogenous methylation and base-calling errors limit the accuracy and hinders its application to complex genomes. RESULTS: We systematically evaluated the impact of these three influence factors, and developed a model-based computational method, methyltransferase accessible genome region finder(MAGNIFIER), to address the issues...
April 13, 2024: Bioinformatics
#8
JOURNAL ARTICLE
Yuma Kawaguchi, Daria Smirnova, Filipp Komissarenko, Svetlana Kiriushechkina, Anton Vakulenko, Mengyao Li, Andrea Alù, Alexander B Khanikaev
Topological boundary modes in electronic and classical-wave systems exhibit fascinating properties. In photonics, topological nature of boundary modes can make them robust and endows them with an additional internal structure-pseudo-spins. Here, we introduce heterogeneous boundary modes, which are based on mixing two of the most widely used topological photonics platforms-the pseudo-spin-Hall-like and valley-Hall photonic topological insulators. We predict and confirm experimentally that transformation between the two, realized by altering the lattice geometry, enables a continuum of boundary states carrying both pseudo-spin and valley degrees of freedom (DoFs)...
April 12, 2024: Science Advances
#9
JOURNAL ARTICLE
Design of efficient binary multiplier architecture using hybrid compressor with FPGA implementation.
V Thamizharasan, V Parthipan
In signal processing applications, the multipliers are essential component of arithmetic functional units in many applications, like digital signal processors, image/video processing, Machine Learning, Cryptography and Arithmetic & Logical units (ALU). In recent years, Profuse multipliers are there. In that, Vedic multiplier is one of the high-performance multiplications and it is used to signal/image processing applications. In order to ameliorate the performance of this multiplier further, by proposed a novel multiplier using hybrid compressor...
April 11, 2024: Scientific Reports
#10
JOURNAL ARTICLE
Maurizio Cardelli, Francesca Marchegiani, Pierpaolo Stripoli, Francesco Piacenza, Rina Recchioni, Mirko Di Rosa, Robertina Giacconi, Marco Malavolta, Roberta Galeazzi, Beatrice Arosio, Fiammetta Cafarelli, Francesco Spannella, Antonio Cherubini, Fabrizia Lattanzio, Fabiola Olivieri
The management of geriatric cardiovascular disease (CVD) patients with multimorbidity remains challenging and could potentially be improved by integrating clinical data with innovative prognostic biomarkers. In this context, the analysis of circulating analytes, including cell-free DNA (cfDNA), appears particularly promising. Here, we investigated circulating cfDNA (measured through the quantification of 247bp and and 115bp Alu genomic fragments) in a cohort of 244 geriatric CVD patients with multimorbidity hospitalised for acute CVD or non-CVD events...
April 9, 2024: Mechanisms of Ageing and Development
#11
JOURNAL ARTICLE
Bharathram Uppili, Mohammed Faruq
Short Tandem Repeats (STRs) are genetic markers made up of repeating DNA sequences. The variations of the STRs are widely studied in forensic analysis, population studies and genetic testing for a variety of neuromuscular disorders. Understanding polymorphic STR variation and its cause is crucial for deciphering genetic information and finding links to various disorders. In this paper, we present STRIDE-DB, a novel and unique platform to explore STR Instability and its Phenotypic Relevance, and a comprehensive database of STRs in the human genome...
April 11, 2024: Database: the Journal of Biological Databases and Curation
#12
Maria Barington, Mads Bak, Kristín Rós Kjartansdóttir, Thomas van Overeem Hansen, Ulf Birkedal, Elsebet Østergaard, Hanne Buciek Hove
Alu elements are short, interspersed elements located throughout the genome, playing a role in human diversity, and occasionally causing genetic diseases. Here, we report a novel Alu insertion causing Mowat-Wilson syndrome, a rare neurodevelopmental disorder, in an 8-year-old boy displaying the typical clinical features for Mowat-Wilson syndrome. The variant was not initially detected in genome sequencing data, but through deep phenotyping, which pointed to only one plausible candidate gene, manual inspection of genome sequencing alignment data enabled us to identify a de novo heterozygous Alu insertion in exon 8 of the ZEB2 gene...
April 11, 2024: American Journal of Medical Genetics. Part A
#13
JOURNAL ARTICLE
Jerzy K Kulski, Shingo Suzuki, Takashi Shiina, Abigail L Pfaff, Sulev Kõks
INTRODUCTION: Parkinson's disease (PD) is a neurodegenerative and polygenic disorder characterised by the progressive loss of neural dopamine and onset of movement disorders. We previously described eight SINE-VNTR-Alu (SVA) retrotransposon-insertion-polymorphisms (RIPs) located and expressed within the Human Leucocyte Antigen (HLA) genomic region of chromosome 6 that modulate the differential co-expression of 71 different genes including the HLA classical class I and class II genes in a Parkinson's Progression Markers Initiative (PPMI) cohort...
2024: Frontiers in Immunology
#14
JOURNAL ARTICLE
Speranza Esposito, Immacolata Zollo, Valeria Rachela Villella, Filippo Scialò, Sonia Giordano, Maria Valeria Esposito, Nunzia Salemme, Carmela Di Domenico, Gustavo Cernera, Federica Zarrilli, Giuseppe Castaldo, Felice Amato
Cystic fibrosis (CF) is a life-limiting genetic disorder characterized by defective chloride ion transport due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Early detection through newborn screening programs significantly improves outcomes for individuals with CF by enabling timely intervention. Here, we report the identification of an Alu element insertion within the exon 15 of CFTR gene, initially overlooked in standard next-generation sequencing analyses. However, using traditional molecular techniques, based on polymerase chain reaction and Sanger sequencing, allowed the identification of the Alu element and reporting a correct diagnosis...
April 3, 2024: Clinica Chimica Acta; International Journal of Clinical Chemistry
#15
JOURNAL ARTICLE
Young-Woo Cho, Jaehyeon Yoon, Suk-Gil Song, Young-Woock Noh
Biodistribution tests are crucial for evaluating the safety of cell therapy (CT) products in order to prevent unwanted organ homing of these products in patients. Quantitative polymerase chain reaction (qPCR) using intronic Alu is a popular method for biodistribution testing owing to its ability to detect donor cells without modifying CT products and low detection limit. However, Alu-qPCR may generate inaccurate information owing to background signals caused by the mixing of human genomic DNA with that of experimental animals...
April 4, 2024: Scientific Reports
#16
JOURNAL ARTICLE
Hussein M E Hussein, Seunghwi Kim, Matteo Rinaldi, Andrea Alù, Cristian Cassella
Optical frequency combs, featuring evenly spaced spectral lines, have been extensively studied and applied to metrology, signal processing, and sensing. Recently, frequency comb generation has been also extended to MHz frequencies by harnessing nonlinearities in microelectromechanical membranes. However, the generation of frequency combs at radio frequencies (RF) has been less explored, together with their potential application in wireless technologies. In this work, we demonstrate an RF system able to wirelessly and passively generate frequency combs...
April 2, 2024: Nature Communications
#17
JOURNAL ARTICLE
Adriano de Souza Carolino, Xaiane Martins Silva Freitas, Célio Matias Airone Macalia, Juliana Coatrini Soares, Andrey Coatrini Soares, Camila da Costa Pinto, Aguyda Rayany Cavalcante Barbosa, Jaqueline de Araújo Bezerra, Pedro Henrique Campelo, Marcos Marques da Silva Paula, Pritesh Jaychand Lalwani, Natalia Mayumi Inada, Ștefan Țãlu, Adriana Malheiro, Edgar Aparecido Sanches
The environment preservation has been an important motivation to find alternative, functional, and biodegradable materials to replace polluting petrochemicals. The production of nonbiodegradable face masks increased the concentration of microplastics in the environment, highlighting the need for sustainable alternatives, such as the use of local by-products to create efficient and eco-friendly filtering materials. Furthermore, the use of smart materials can reduce the risk of contagion and virus transmission, especially in the face of possible mutations...
April 2, 2024: Microscopy Research and Technique
#18
JOURNAL ARTICLE
Li Chen, Wenyan Ren, Hong Lei, Jiayu Wang, Haiying Que, Dandan Wan, Aqu Alu, Dandan Peng, Minyang Fu, Weiqi Hong, Yuhe Huang, Xiangrong Song, Guangwen Lu, Xiawei Wei
The emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants has decreased the efficacy of SARS-CoV-2 vaccines in containing coronavirus disease 2019 (COVID-19) over time, and booster vaccination strategies are urgently necessitated to achieve sufficient protection. Intranasal immunization can improve mucosal immunity, offering protection against the infection and sustaining the spread of SARS-CoV-2. In this study, an intranasal booster of the RBD-HR vaccine after two doses of the mRNA vaccine significantly increased the levels of specific binding antibodies in serum, nasal lavage fluid, and bronchoalveolar lavage fluid compared with only two doses of mRNA vaccine...
July 2024: Genes & Diseases
#19
REVIEW
Arseniy I Kuznetsov, Mark L Brongersma, Jin Yao, Mu Ku Chen, Uriel Levy, Din Ping Tsai, Nikolay I Zheludev, Andrei Faraon, Amir Arbabi, Nanfang Yu, Debashis Chanda, Kenneth B Crozier, Alexander V Kildishev, Hao Wang, Joel K W Yang, Jason G Valentine, Patrice Genevet, Jonathan A Fan, Owen D Miller, Arka Majumdar, Johannes E Fröch, David Brady, Felix Heide, Ashok Veeraraghavan, Nader Engheta, Andrea Alù, Albert Polman, Harry A Atwater, Prachi Thureja, Ramon Paniagua-Dominguez, Son Tung Ha, Angela I Barreda, Jon A Schuller, Isabelle Staude, Gustavo Grinblat, Yuri Kivshar, Samuel Peana, Susanne F Yelin, Alexander Senichev, Vladimir M Shalaev, Soham Saha, Alexandra Boltasseva, Junsuk Rho, Dong Kyo Oh, Joohoon Kim, Junghyun Park, Robert Devlin, Ragip A Pala
Metasurfaces have recently risen to prominence in optical research, providing unique functionalities that can be used for imaging, beam forming, holography, polarimetry, and many more, while keeping device dimensions small. Despite the fact that a vast range of basic metasurface designs has already been thoroughly studied in the literature, the number of metasurface-related papers is still growing at a rapid pace, as metasurface research is now spreading to adjacent fields, including computational imaging, augmented and virtual reality, automotive, display, biosensing, nonlinear, quantum and topological optics, optical computing, and more...
March 20, 2024: ACS Photonics
#20
JOURNAL ARTICLE
Jakob Hinney, Seunghwi Kim, Graydon J K Flatt, Ipshita Datta, Andrea Alù, Michal Lipson
Critical coupling in integrated photonic devices enables the efficient transfer of energy from a waveguide to a resonator, a key operation for many applications. This condition is achieved when the resonator loss rate is equal to the coupling rate to the bus waveguide. Carefully matching these quantities is challenging in practice, due to variations in the resonator properties resulting from fabrication and external conditions. Here, we demonstrate that efficient energy transfer to a non-critically coupled resonator can be achieved by tailoring the excitation signal in time...
March 28, 2024: Nature Communications
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