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38th International Cosmic Ray Conference, ICRC 2023

作者： Fukami, Satoshi Berti, Alessio Loporchio, Serena Nava, Lara Suda, Yusuke Noda, Koji Asano, Katsuaki Bošnjak, Željka Longo, Francesco Jordana-Mitjans, Nuria Melandri, Andrea Mundell, Carole Shrestha, Manisha Steele, Iain Abe, H. Abe, S. Abhir, J. Acciari, V.A. Agudo, I. Aniello, T. Ansoldi, S. Antonelli, L.A. Arbet Engels, A. Arcaro, C. Artero, M. Asano, K. Baack, D. Babić, A. Baquero, A. Barres de Almeida, U. Barrio, J.A. Batković, I. Baxter, J. Becerra González, J. Bednarek, W. Bernardini, E. Bernardos, M. Bernete, J. Berti, A. Besenrieder, J. Bigongiari, C. Biland, A. Blanch, O. Bonnoli, G. Bošnjak, Ž. Burelli, I. Busetto, G. Campoy-Ordaz, A. Carosi, A. Carosi, R. Carretero-Castrillo, M. Castro-Tirado, A.J. Ceribella, G. Chai, Y. Chilingarian, A. Cifuentes, A. Cikota, S. Colombo, E. Contreras, J.L. Cortina, J. Covino, S. D’Amico, G. D’Elia, V. Da Vela, P. Dazzi, F. De Angelis, A. De Lotto, B. Del Popolo, A. Delfino, M. Delgado, J. Delgado Mendez, C. Depaoli, D. Di Pierro, F. Di Venere, L. Dominis Prester, D. Donini, A. Dorner, D. Doro, M. Elsaesser, D. Emery, G. Escudero, J. Fariña, L. Fattorini, A. Foffano, L. Font, L. Fröse, S. Fukami, S. Fukazawa, Y. García López, R.J. Garczarczyk, M. Gasparyan, S. Gaug, M. Giesbrecht Paiva, J.G. Giglietto, N. Giordano, F. Gliwny, P. Godinović, N. Grau, R. Green, D. Green, J.G. Hadasch, D. Hahn, A. Hassan, T. Heckmann, L. Herrera, J. Hrupec, D. Hütten, M. Imazawa, R. Inada, T. Iotov, R. Ishio, K. Jiménez Martínez, I. Jormanainen, J. Kerszberg, D. Kluge, G.W. Kobayashi, Y. Kouch, P.M. Kubo, H. Kushida, J. Láinez Lezáun, M. Lamastra, A. Lelas, D. Leone, F. Lindfors, E. Linhoff, L. Lombardi, S. Longo, F. López-Coto, R. López-Moya, M. López-Oramas, A. Loporchio, S. Lorini, A. Lyard, E. Machado de Oliveira Fraga, B. Majumdar, P. Makariev, M. Maneva, G. Mang, N. Manganaro, M. Mangano, S. Mannheim, K. Mariotti, M. Martínez, M. Martínez-Chicharro, M. Mas-Aguilar, A. Mazin, D. Menchiari, S. Mender, S. Institute for Particle Physics and Astrophysics ETH Zürich Otto-Stern-Weg 5 Zürich8093 Switzerland Institute for Cosmic Ray Research The University of Tokyo Kashiwanoha 5-1-5 Kashiwa Japan Max Planck Institut for Physics Föhringer Ring 6 Munich Germany INFN MAGIC Group INFN Sezione di Bari Dipartimento Interateneo di Fisica Università e del Politecnico di Bari BariI-70125 Italy RomeI-00136 Italy Physics Program Graduate School of Advanced Science and Engineering Hiroshima University Hiroshima739-8526 Japan Faculty of Electrical Engineering and Computing University of Zagreb Zagreb Croatia INFN Sezione di Trieste via Valerio 2 Trieste Italy Department of Physics University of Bath Claverton Down BathBA2 7AY United Kingdom INAF-Osservatorio Astronomico di Brera Via E. Bianchi 46 LC MerateI-23807 Italy European Space Agency European Space Astronomy Centre Villanueva de la Canñada Madrid28692 Spain Astrophysics Research Institute Liverpool John Moores University Liverpool Science Park IC2 146 Brownlow HillL3 5RF United Kingdom Steward Observatory University of Arizona 933 North Cherry Avenue TucsonAZ85721-0065 United States The University of Tokyo Chiba Kashiwa277-8582 Japan ETH Zürich ZürichCH-8093 Switzerland Instituto de Astrofísica de Canarias Dpto. de Astrofísica Universidad de La Laguna Tenerife La LagunaE-38200 Spain Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n Granada18008 Spain Università di Udine INFN Trieste UdineI-33100 Italy Max-Planck-Institut für Physik MünchenD-80805 Germany Università di Padova INFN PadovaI-35131 Italy Bellaterra BarcelonaE-08193 Spain Technische Universität Dortmund DortmundD-44221 Germany Zagreb10000 Croatia IPARCOS Institute EMFTEL Department Universidad Complutense de Madrid MadridE-28040 Spain URCA RJ Rio de Janeiro22290-180 Brazil University of Lodz Faculty of Physics and Applied Informatics Department of Astrophysics Lodz90-236 Pola

Recently, several gamma-ray bursts (GRBs) have been detected in the very-high-energy (VHE) gamma-ray energy range by ground-based gamma-ray experiments such as MAGIC, H.E.S.S., and LHASSO. For some GRBs, the VHE emission is consistent with synchrotron self-Compton (SSC) emission from high-energy electrons accelerated in the forward shock of the relativistic jet. However, more statistics are needed to further constrain the emission models. GRB 201216C is a long bright GRB detected in a broad energy range from radio to VHE. The redshift is estimated to be 1.1, making the GRB the most distant source detected in the VHE energy range. MAGIC started the observation 56 seconds after the GRB was triggered by the Swift-BAT telescope. We performed a detailed analysis and detected the signal with about 6 sigma in the first 20 minutes. MAGIC continued the observation for 2.2 hours on the same night and 4 hours on the next night. No signal was detected later than 40 minutes after the GRB trigger. We have performed modelling of the multi-wavelength emission using the MAGIC data. We analysed simultaneous optical data from Liverpool Telescope with MAGIC and included the results in the modelling. The sub-TeV emission is consistent with the single-zone SSC model in the forward shock. In this presentation, we show the final results of the MAGIC data analysis of GRB 201216C and discuss the emission mechanism of the multi-wavelength data. © Copyright owned by the author(s) under the terms of the Creative Commons.

关键词： Gamma rays

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Heuristic Kalman Algorithm for Multiobjective Optimization.

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IFAC-PapersOnLine 2017年第1期50卷 4460-4465页

作者： Hultmann Ayala H.V. dos Santos Coelho L. Reynoso-Meza G. Industrial and Systems Engineering Graduate Program PPGEPS Polytechnic School Pontifical Catholic University of Paraná PUCPR Rua Imaculada Conceição 1155 Curitiba PR code 80215-901 Brazil Department of Electrical Engineering (PPGEE) Federal University of Parana (UFPR) Polytechnic Center Curitiba Parana 81531-970 Brazil

This papers presents a new heuristic multiobjective optimization procedure based on Kalman filtering. The novel approach is compared to the well-known Nondominated Sorting Genetic Algorithm version II with the Zitzler, Deb and Thiele test suite showing favorable results for the Kalman based solution. Further improvement on the proposed algorithm is made with respect to the learning factor, which is set to be time-dependent, improving the algorithm in most cases and diminishing the number of control parameters. The proposed multiobjective optimization algorithm is interesting due to its convergence and coverage quality, its computational complexity and few parameters to be adjusted. © 2017

关键词： loop pairing Multi-input/multi-output systems Multi-objective optimization Multiloop control

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Demonstration of a quantized acoustic octupole topological insulator

arXiv

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arXiv 2019年

作者： Ni, Xiang Li, Mengyao Weiner, Matthew Alù, Andrea Khanikaev, Alexander B. Department of Electrical Engineering Grove School of Engineering City College of the City University of New York 140th Street and Convent Avenue New YorkNY10031 United States Physics Program Graduate Center of the City University of New York New YorkNY10016 United States Photonics Initiative Advanced Science Research Center City University of New York New YorkNY10031 United States

Recently extended from the modern theory of electric polarization1-4, quantized multipole topological insulators (QMTIs)5,6 describe higher-order multipole moments, lying in nested Wilson loops, which are inherently quantized by lattice symmetries. Overlooked in the past, QMTIs reveal new types of gapped boundaries, which themselves represent lower-dimensional topological phases and host topologically protected zero-dimensional (0D) corner states. Inspired by these pioneering theoretical predictions, tremendous efforts have been devoted to the experimental observation of topological quantized quadrupole phase in a variety of two dimensional (2D) metamaterials7-10. However, due to stringent requirements of anti-commuting reflection symmetries in crystals, it has been challenging to achieve higher-order quantized multipole moments, such as octupole moments, in a realistic three-dimensional (3D) structure. Here, we overcome these challenges, and experimentally realize the acoustic analogue of a quantized octupole topological insulator (QOTIs) using negatively coupled resonators. We confirm by first-principle studies that our design possesses a quantized octupole topological phase, and experimentally demonstrate spectroscopic evidence of a topological hierarchy of states in our metamaterial, observing 3rd order corner states, 2nd order hinge states and 1st order surface states. Furthermore, we reveal topological phase transitions from higher- to lower-order multipole moments in altered designs of acoustic TIs. Our work offers a new pathway to explore higher-order topological states (HOTSs) in 3D classical platforms. Copyright © 2019, The Authors. All rights reserved.

关键词： Topology

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Photonic Higher-order topological states induced by long range interactions

arXiv

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arXiv 2019年

作者： Li, Mengyao Zhirihin, Dmitry Filonov, Dmitry Ni, Xiang Slobozhanyuk, Alexey Alù, Andrea Khanikaev, Alexander B. Department of Electrical Engineering Grove School of Engineering City College of New York NY10031 United States Physics Program Graduate Center of the City University of New York New YorkNY10016 United States Department of Nanophotonics and Metamaterials ITMO University St. Petersburg197101 Russia Photonics Initiative Advanced Science Research Center City University of New York New YorkNY10031 United States

The discovery of topological phases has recently led to a paradigm shift in condensed matter physics, and facilitated breakthroughs in engineered photonics and acoustic metamaterials. Topological insulators (TIs) enable the generation of electronic, photonic, and acoustic modes exhibiting wave propagation that is resilient to disorder, irrespective of manufacturing precision or unpredictable defects induced by the operational environment, known as topological protection. While originally limited to a dimensionality of the protected states that is one dimension lower than the host TI material, the recent discovery of higher-order topological insulators (HOTIs) provides the potential to overcome this dimensionality limitations by offering topological protection over an extended range of dimensionalities. Here we demonstrate 2D photonic HOTI (PHOTI) with topological states two dimensions lower than the one of the host system. We consider a photonic metacrystal of distorted Kagome lattice geometry that exhibits topological bulk polarization, leading to the emergence of 1D topological edge states and of higher order 0D states confined to the corners of the structure. Interestingly, in addition to corner states due to the nearest neighbour interactions and protected by generalized chiral symmetry1, we discover and take advantage of a new class of topological corner states sustained by long-range interactions, available in wave-based systems, such as in photonics. Our findings demonstrate that photonic HOTIs possess richer physics compared to their condensed matter counterparts, offering opportunities for engineering novel designer electromagnetic states with unique topological robustness. Copyright © 2019, The Authors. All rights reserved.

关键词： Electric insulators

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Direct visualization of topological transitions and higher-order topological states in photonic metasurfaces

arXiv

引用

arXiv 2019年

作者： Vakulenko1, Anton Kiriushechkina1, Svetlana Li1, Mengyao Zhirihin1, Dmitriy Ni1, Xiang Guddala1, Sriram Korobkin3, Dmitriy Alù3, Andrea Khanikaev, Alexander B. Department of Electrical Engineering Grove School of Engineering City College of City University of New York 140th Street and Convent Avenue New YorkNY10031 United States Physics Program Graduate Center of City University of New York New YorkNY10016 United States Advanced Science Research Center City University of New York Photonics Initiative New YorkNY10031 United States

Topological photonic systems represent a new class of optical materials supporting boundary modes with unique properties, not found in conventional photonics. While the early research on topological photonics has focused on edge and surface modes in 2D and 3D systems, respectively, recently higher-order topological insulators (HOTIs) supporting lower-dimensional boundary states have been introduced. In this work we design and experimentally realize a photonic kagome metasurface exhibiting a Wannier-type higher-order topological phase. We demonstrate and visualize the emergence of a topological transition and opening of a Dirac cone by directly exciting the bulk modes of the HOTI metasurface via solid-state immersion spectroscopy. The open nature of the metasurface is then utilized to directly image topological boundary states. We show that, while the domain walls host 1D edge states, their bending induces 0D higher-order topological modes confined to the corners. The demonstrated metasurface hosting topological boundary modes of different dimensionality paves the way to a new generation of universal and resilient optical devices which can controllably scatter, trap and guide optical fields in a robust way. Copyright © 2019, The Authors. All rights reserved.

关键词： Domain walls

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Fourth-order topological insulator via dimensional reduction

arXiv

引用

arXiv 2019年

作者： Chen, Kai Weiner, Matthew Li, Mengyao Ni, Xiang Alù, Andrea Khanikaev, Alexander B. Department of Electrical Engineering Grove School of Engineering City College City University of New York 140th Street and Convent Avenue New YorkNY10031 United States Physics Program Graduate Center City University of New York New YorkNY10016 United States Photonics Initiative Advanced Science Research Center City University of New York New YorkNY10031 United States

The properties of topological systems are inherently tied to their dimensionality. Higher-dimensional physical systems exhibit topological properties not shared by their lower dimensional counterparts and, in general, offer richer physics. One example is a d-dimensional quantized multipole topological insulator, which supports multipoles of order up to 2d and a hierarchy of gapped boundary modes with 0-D corner modes at the top. While multipole topological insulators have been successfully realized in electromagnetic and mechanical 2D systems with quadrupole polarization, and a 3D octupole topological insulator was recently demonstrated in acoustics, going beyond the three physical dimensions of space is an intriguing and challenging task. In this work, we apply dimensional reduction to map a 4D higher-order topological insulator (HOTI) onto an equivalent aperiodic 1D array sharing the same spectrum, and emulate in this system the properties of a hexadecapole topological insulator. We observe the 1D counterpart of zero-energy states localized at 4D HOTI corners - the hallmark of multipole topological phase. Interestingly, the dimensional reduction guarantees that one of the 4D corner states remains localized to the edge of the 1D array, while all other localize in the bulk and retain their zero-energy eigenvalues. This discovery opens new directions in multi-dimensional topological physics arising in lower-dimensional aperiodic systems, and it unveils highly unusual resonances protected by topological properties inherited from higher dimensions. Copyright © 2019, The Authors. All rights reserved.

关键词： Topology

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Demonstration of a 3rd order hierarchy of higher order topological states in a three-dimensional acoustic metamaterial

arXiv

引用

arXiv 2019年

作者： Weiner, Matthew Ni, Xiang Li, Mengyao Alù, Andrea Khanikaev, Alexander B. Department of Electrical Engineering Grove School of Engineering City College of the City University of New York 140th Street and Convent Avenue New YorkNY10031 United States Physics Program Graduate Center of the City University of New York New YorkNY10016 United States Photonics Initiative Advanced Science Research Center City University of New York New YorkNY10031 United States

In the past years classical wave-systems have constituted an excellent platform for emulating complex quantum phenomena. This approach has been especially fruitful in demonstrating topological phenomena in photonics and acoustics: from chiral edge states of Chern insulators and helical edge states of topological insulators to higher-dimensional topological states of quasiperiodic systems and systems with synthetic dimensions. Recently, a new class of topological states localized in more than one dimension of a D-dimensional system, referred to as higher-order topological (HOT) states, has been reported, offering an even more versatile platform to confine and control classical radiation and mechanical motion. However, because experimental research of HOT states has so far been limited to two-dimensional (2D) systems, third and higher-order states have evaded experimental observation. Studying higher-dimensional classical systems therefore opens an opportunity to emulate higher-order topological insulators and explore HOT states beyond second order. In this letter, we design and experimentally study a 3D acoustic metamaterial supporting third-order (0D) topological corner states along with second-order (1D) edge states within the same topological bandgap, thus establishing a full hierarchy of HOT states in three dimensions. The metamaterial is implemented over a versatile additive manufacturing platform, which enables rapid prototyping of metaatoms and metamolecules, which can be snapped together to form 3D metamaterials with complex geometries. The assembled 3D topological metamaterial represents the acoustic analogue of a pyrochlore lattice made of interconnected molecules, and is shown to exhibit topological bulk polarization, leading to the emergence of HOT states localized in all three or in two dimensions. Copyright © 2019, The Authors. All rights reserved.

关键词： Metamaterials

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Development of concept essential in kinematic topics

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Journal of Physics: Conference Series 2020年第2期1521卷

作者： R Ekawati A Setiawan A R Wulan D Rusdiana Department of Vocational Electrical Engineering Education Universitas Sultan Ageng Tirtayasa Jl. Raya Jakarta Km. 4 Serang 42124 Indonesia Science Education Program School of Post Graduate Studies Universitas Pendidikan Indonesia Jl. Setiabudhi No. 229 Bandung 40154 Indonesia

Essential concepts were important aspects in physics education, especially in the study of learning development, student evaluation, and curriculum planning. Several types of concept analysis models are commonly applied in the context of physics, i.e. sematic network techniques, concept formation (concept analysis), concept maps, and representing substantive structure. The stages of essential concept development were concept analysis, concept map and essential concept. The research method used development research. The stages of development research included (1) the preliminary study phase, (2) the development study phase, (3) the evaluation phase. The main results of this study were essential concepts on the topic of Kinematics.

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Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021

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The Lancet 2023年第10397期402卷 203-234页

作者： Ong, Kanyin Liane Stafford, Lauryn K. McLaughlin, Susan A. Boyko, Edward J. Vollset, Stein Emil Smith, Amanda E. Dalton, Bronte E. Duprey, Joe Cruz, Jessica A. Hagins, Hailey Lindstedt, Paulina A. Aali, Amirali Abate, Yohannes Habtegiorgis Abate, Melsew Dagne Abbasian, Mohammadreza Abbasi-Kangevari, Zeinab Abbasi-Kangevari, Mohsen ElHafeez, Samar Abd Abd-Rabu, Rami Abdulah, Deldar Morad Abdullah, Abu Yousuf Md Abedi, Vida Abidi, Hassan Aboagye, Richard Gyan Abolhassani, Hassan Abu-Gharbieh, Eman Abu-Zaid, Ahmed Adane, Tigist Demssew Adane, Denberu Eshetie Addo, Isaac Yeboah Adegboye, Oyelola A. Adekanmbi, Victor Adepoju, Abiola Victor Adnani, Qorinah Estiningtyas Sakilah Afolabi, Rotimi Felix Agarwal, Gina Aghdam, Zahra Babaei Agudelo-Botero, Marcela Arriagada, Constanza Elizabeth Aguilera Agyemang-Duah, Williams Ahinkorah, Bright Opoku Ahmad, Danish Ahmad, Rizwan Ahmad, Sajjad Ahmad, Aqeel Ahmadi, Ali Ahmadi, Keivan Ahmed, Ali Ahmed, Luai A. Ahmed, Syed Anees Ajami, Marjan Akinyemi, Rufus Olusola Al Hamad, Hanadi Al Hasan, Syed Mahfuz AL-Ahdal, Tareq Mohammed Ali Alalwan, Tariq A. Al-Aly, Ziyad AlBataineh, Mohammad T. Alcalde-Rabanal, Jacqueline Elizabeth Alemi, Sharifullah Ali, Hassam Alinia, Tahereh Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Amare, Firehiwot Ameyaw, Edward Kwabena Amiri, Sohrab Amusa, Ganiyu Adeniyi Andrei, Catalina Liliana Anjana, Ranjit Mohan Ansar, Adnan Ansari, Golnoosh Ansari-Moghaddam, Alireza Anyasodor, Anayochukwu Edward Arabloo, Jalal Aravkin, Aleksandr Y. Areda, Demelash Arifin, Hidayat Arkew, Mesay Armocida, Benedetta Arnlov, Johan Artamonov, Anton A. Arulappan, Judie Aruleba, Raphael Taiwo Arumugam, Ashokan Aryan, Zahra Asemu, Mulu Tiruneh Asghari-Jafarabadi, Mohammad Askari, Elaheh Asmelash, Daniel Astell-Burt, Thomas Athar, Mohammad Athari, Seyyed Shamsadin Atout, Maha Moh'd Wahbi Avila-Burgos, Leticia Awaisu, Ahmed Azadnajafabad, Sina Darshan, B.B. Babamohamadi, Hassan Badar, Muhammad Badawi, Alaa Badiye, Ashish D. Baghcheghi, Nayereh Baghe Institute for Health Metrics and Evaluation School of Medicine General Medicine Service Department of Veterans Affairs Seattle WA United States Department of Health Metrics Sciences School of Medicine Faculty of Medicine France Department of Clinical Governance and Quality Improvement Aleta Wondo Hospital Aleta Wondo Ethiopia Department of Nursing Woldia University Woldia Ethiopia Department of Nursing Department of Orthopedic Surgery Orthopaedic Surgery Social Determinants of Health Research Center Non-communicable Diseases Research Center Epidemiology Department Evidence-Based Practice Center Community and Maternity Nursing Unit University of Duhok Duhok Iraq School of Planning Faculty of Environment Department of Public Health Sciences Penn State College of Medicine Pennsylvania State University Hershey PA United States Biocomplexity Institute Virginia Tech Blacksburg VA United States College of Medicine Department of Public Health Laboratory Technology Sciences Department Department of Family and Community Health University of Health and Allied Sciences Ho Ghana Research Center for Immunodeficiencies Department of Biosciences and Nutrition Karolinska University Hospital Huddinge Sweden Clinical Sciences Department Department of Surgery Department of Surgery Department of Obstetrics & Gynecology College of Graduate Health Sciences University of Tennessee Memphis TN United States Department of Obstetrics & Gynecology Department of Clinical and Psychosocial Epidemiology Department of Anesthesia and Critical Care Centre for Social Research in Health Quality and Systems Performance Unit Cancer Institute NSW Sydney NSW Australia Department of Public Health and Tropical Medicine HIV and Infectious Diseases Department Jhpiego Abuja Nigeria Adolescent Research and Care Department Adolescent Friendly Research Initiative and Care Ado Ekiti Nigeria Department of Epidemiology Department of Epidemiology and Medical Statistics Department of Family Medicine McMaster University

Background: Diabetes is one of the leading causes of death and disability worldwide, and affects people regardless of country, age group, or sex. Using the most recent evidentiary and analytical framework from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD), we produced location-specific, age-specific, and sex-specific estimates of diabetes prevalence and burden from 1990 to 2021, the proportion of type 1 and type 2 diabetes in 2021, the proportion of the type 2 diabetes burden attributable to selected risk factors, and projections of diabetes prevalence through 2050. Methods: Estimates of diabetes prevalence and burden were computed in 204 countries and territories, across 25 age groups, for males and females separately and combined;these estimates comprised lost years of healthy life, measured in disability-adjusted life-years (DALYs;defined as the sum of years of life lost [YLLs] and years lived with disability [YLDs]). We used the Cause of Death Ensemble model (CODEm) approach to estimate deaths due to diabetes, incorporating 25 666 location-years of data from vital registration and verbal autopsy reports in separate total (including both type 1 and type 2 diabetes) and type-specific models. Other forms of diabetes, including gestational and monogenic diabetes, were not explicitly modelled. Total and type 1 diabetes prevalence was estimated by use of a Bayesian meta-regression modelling tool, DisMod-MR 2.1, to analyse 1527 location-years of data from the scientific literature, survey microdata, and insurance claims;type 2 diabetes estimates were computed by subtracting type 1 diabetes from total estimates. Mortality and prevalence estimates, along with standard life expectancy and disability weights, were used to calculate YLLs, YLDs, and DALYs. When appropriate, we extrapolated estimates to a hypothetical population with a standardised age structure to allow comparison in populations with different age structures. We used the comparative r

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024)

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AMERICAN JOURNAL OF HUMAN GENETICS 2024年第4期11卷 805-805页

作者： Paul, Maimuna S. Michener, Sydney L. Pan, Hongling Chan, Hiuling Pfliger, Jessica M. Rosenfeld, Jill A. Lerma, Vanesa C. Tran, Alyssa Longley, Megan A. Lewis, Richard A. Weisz-Hubshman, Monika Bekheirnia, Mir Reza Bekheirnia, Nasim Massingham, Lauren Zech, Michael Wagner, Matias Engels, Hartmut Cremer, Kirsten Mangold, Elisabeth Peters, Sophia Trautmann, Jessica Perne, Claudia Mester, Jessica L. Sacoto, Maria J. Guillen Person, Richard McDonnell, Pamela P. Cohen, Stacey R. Lusk, Laina Cohen, Ana S. A. Le Pichon, Jean-Baptiste Pastinen, Tomi Zhou, Dihong Engleman, Kendra Racine, Caroline Faivre, Laurence Moutton, Sebastien Denomme-Pichon, Anne-Sophie Koh, Hyun Yong Poduri, Annapurna Bolton, Jeffrey Knopp, Cordula Suh, Dong Sun Julia Maier, Andrea Toosi, Mehran Beiraghi Karimiani, Ehsan Ghayoor Maroofian, Reza Schaefer, Gerald Bradley Ramakumaran, Vijayalakshmi Vasudevan, Pradeep Banos-Pinero, Benito Pagnamenta, Alistair T. Prasad, Chitra Osmond, Matthew Schuhmann, Sarah Vasileiou, Georgia Russ-Hall, Sophie Scheffer, Ingrid E. Carvill, Gemma L. Mefford, Heather Bacino, Carlos A. Lee, Brendan H. Chao, Hsiao-Tuan Department of Pediatrics Section of Neurology and Developmental Neuroscience Baylor College of Medicine Houston TX USA Jan and Dan Duncan Neurological Research Institute Texas Children’s Hospital Houston TX USA Cain Pediatric Neurology Research Foundation Laboratories Jan and Dan Duncan Neurological Research Institute Houston TX USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Augustana College Rock Island IL USA Summer Undergraduate Research Training (SMART) Program Baylor College of Medicine Houston TX USA Graduate Program in Electrical and Computer Engineering Rice University Houston TX USA Department of Psychology University of Houston Houston TX USA Department of Ophthalmology Baylor College of Medicine Houston TX USA Renal Genetics Clinic Baylor College of Medicine Houston TX USA Rhode Island Hospital and Hasbro Children’s Hospital Providence RI USA Institute of Neurogenomics Helmholtz Zentrum München Munich Germany Institute of Human Genetics School of Medicine Technical University Munich Germany Institute for Advanced Study Technical University of Munich Garching Germany Division of Pediatric Neurology Developmental Neurology and Social Pediatrics Dr. von Hauner Children’s Hospital Munich Germany Institute of Human Genetics School of Medicine University Hospital Bonn University of Bonn Bonn Germany GeneDx Gaithersburg MD USA Epilepsy NeuroGenetics Initiative (ENGIN) Division of Neurology Children’s Hospital of Philadelphia Philadelphia PA USA Department of Neurology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Children’s Mercy Kansas City Genomic Medicine Center The University of Missouri-Kansas City (UMKC) School of Medicine Kansas City MO USA Department of Pediatrics Children’s Mercy Kansas City Kansas City MO USA Children’s Mercy Research Institute Kansas City MO USA Children’s Mercy Hospital Kansas City MO USA University Hospital Dijon Franc

PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase-interacting-protein (liprin) family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active zone assembly. The protein structure and function are evolutionarily well conserved, but human diseases related to PPFIA3 dysfunction are not yet reported in OMIM. Here, we report 20 individuals with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy with reduced penetrance. Seventeen unique PPFIA3 variants were detected in 18 families. To determine the pathogenicity of PPFIA3 variants in vivo, we generated transgenic fruit flies producing either human wild-type (WT) PPFIA3 or five missense variants using GAL4-UAS targeted gene expression systems. In the fly overexpression assays, we found that the PPFIA3 variants in the region encoding the N-terminal coiled-coil domain exhibited stronger phenotypes compared to those affecting the C-terminal region. In the loss-of-function fly assay, we show that the homozygous loss of fly Liprin-α leads to embryonic lethality. This lethality is partially rescued by the expression of human PPFIA3 WT, suggesting human PPFIA3 function is partially conserved in the fly. However, two of the tested variants failed to rescue the lethality at the larval stage and one variant failed to rescue lethality at the adult stage. Altogether, the human and fruit fly data reveal that the rare PPFIA3 variants are dominant-negative loss-of-function alleles that perturb multiple developmental processes and synapse formation.

关键词： neurodevelopmental disorder synaptic protein active zone protein Mendelian phenotypes fruit flies

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