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

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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Single-photon embedded eigenstates in coupled cavity-atom systems

arXiv

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arXiv 2018年

作者： Cotrufo, Michele Alù, Andrea Department of Electrical and Computer Engineering University of Texas at Austin AustinTX78712 United States Photonics Initiative Advanced Science Research Center City University of New York NY10031 United States Physics Program Graduate Center City University of New York NY10016 United States Department of Electrical Engineering City College of The City University of New York NY10031 United States

Confining light in open structures is a long-sought goal in nanophotonics and cavity quantum electrodynamics. Embedded eigenstates provide infinite lifetime despite the presence of available leakage channels, but in linear time-invariant systems they cannot be excited from the outside, due to reciprocity. Here, we investigate how atomic nonlinearities may support single-photon embedded eigenstates, which can be populated by a multi-photon excitation followed by internal relaxation. We calculate the system dynamics and show that photon trapping, as well as the reverse release process, can be achieved with arbitrarily high efficiencies. We also discuss the impact of loss, and a path towards the experimental verification of these concepts. Copyright © 2018, The Authors. All rights reserved.

关键词： Particle beams

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Designing an Institutional Research Management System Framework for Higher Education

Designing an Institutional Research Management System Framew...

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International Conference on Information Management and Technology (ICIMTech)

作者： Noerlina Siti Elda Hiererra Bahtiar Saleh Abbas Brilly Andro Makalew Desi Maya Kristin Tirta Nugraha Mursitama David Information Systems Department Bina Nusantara University Jakarta Indonesia Industrial Engineering Department Bina Nusantara University Jakarta Indonesia Mobile Application & Technology Program Bina Nusantara University Jakarta Indonesia International Relations Department Bina Nusantara University Jakarta Indonesia Computer Science Department Bina Nusantara University Jakarta Indonesia

The following topics are dealt with: Internet; organisational aspects; data analysis; educational institutions; information systems; knowledge management; statistical analysis; further education; computer aided instru... 详细信息

关键词： Manuals Education Proposals Information systems Requirements engineering System analysis and design Conferences

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An automated entrepreneurial team selection tool 123

An automated entrepreneurial team selection tool

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123rd ASEE Annual Conference and Exposition

作者： Sassenfeld, Rolfe J. Nogales, Luke Gamillo, Barbara Andrea New Mexico State University Program Coordinator of the Electronics and Computer Engineering Program Engineering Technology Department United States

This is a Work in Progress paper and will focus on the development and implementation of a software tool for engineering entrepreneurship team selection. Students working in teams is an integral part of today's engineering learning experience. Selection of students for team placement is often done manually or in some other ad hoc fashion. We present an automated software tool we call "TeamBuilder" for forming teams in the classroom, as well as for supporting forming entrepreneurial teams. Our tool incorporates factors such as the student's personality, experience, major, and gender. TeamBuilder uses the Teamology approach, which utilizes Carl Jung's personality formula, similar to the Myers-Briggs type indicator, to classify a student's primary cognitive mode. The TeamBuilder program also incorporates a student's demographic information, enabling users to better specify the team makeup. Instructors can select and prioritize the criteria for group composition and TeamBuilder automatically builds the teams. This tool allows any instructor to quickly form teams that have diversity or similarities with respect to personality type, primary cognitive modes, academic major, specific experience or expertise, and gender. With TeamBuilder, instructors can prioritize which factors are most important for the particular team exercise. TeamBuilder also offers the ability to create completely randomized student teams. This tool can support and facilitate researchers studying the effect of team composition on student learning. Instructors can even use TeamBuilder to create randomized control teams to use as comparison to teams with specific compositions. In this paper we discuss the evolution of the TeamBuilder software and its use in the entrepreneurship team formation. We provide illustrative examples of TeamBuilder in use within courses to study the effect on students' team formation preferences. Initial data is used to directionally assess the performance of teams formed ad hoc

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NANOROBOTS: Intracellular manipulation and measurement with multipole magnetic tweezers

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Science Robotics 2019年第28期4卷

作者： Wang, X. Ho, C. Tsatskis, Y. Law, J. Zhang, Z. Zhu, M. Dai, C. Wang, F. Tan, M. Hopyan, S. McNeill, H. Sun, Y. Department of Mechanical and Industrial Engineering University of Toronto TorontoONM5S 3G8 Canada Institute of Biomaterials and Biomedical Engineering TorontoONM5S 3G9 Canada Lunenfeld-Tanenbaum Research Institute Mt. Sinai Hospital TorontoONM5G 1X5 Canada Program in Developmental and Stem Cell Biology Hospital for Sick Children TorontoONM5G 1X8 Canada HRG Central Institute of Robotics HIT Robot Group Harbin Heilongjiang150001 China Institute of Automation Chinese Academy of Sciences Beijing100190 China Division of Orthopaedic Surgery Hospital for Sick Children and University of Toronto TorontoONM5G 1X8 Canada Department of Developmental Biology Washington University School of Medicine St. LouisMO63108 United States Department of Electrical and Computer Engineering University of Toronto TorontoONM5S 3G4 Canada

The capability to directly interrogate intracellular structures inside a single cell for measurement and manipulation is important for understanding subcellular and suborganelle activities, diagnosing diseases, and developing new therapeutic approaches. Compared with measurements of single cells, physical measurement and manipulation of subcellular structures and organelles remain underexplored. To improve intracellular physical measurement and manipulation,we have developed amultipole magnetic tweezers system for micromanipulation involving submicrometer position control and piconewton force control of a submicrometermagnetic bead inside a single cell for measurement in different locations (spatial) and different time points (temporal). The beadwas three-dimensionally positioned in the cell using a generalized predictive controller that addresses the control challenge caused by the low bandwidth of visual feedback from high-resolution confocal imaging. The average positioning error was quantified to be 0.4 mm, slightly larger than the Brownianmotion-imposed constraint (0.31 mm). The system is also capable of applying a force up to 60 pN with a resolution of 4 pN for a period of time longer than 30 min. The measurement results revealed that significantly higher stiffness exists in the nucleus' major axis than in the minor axis. This stiffness polarity is likely attributed to the aligned actin filament. We also showed that the nucleus stiffens upon the application of an intracellularly applied force, which can be attributed to the response of structural protein lamin A/C and the intracellular stress fiber actin filaments. © 2019 The Authors.

关键词： Cells

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Evaluation of an Instrument to Identify Factors that Impact the Motivation and Engagement of Undergraduate Students in Computing

Evaluation of an Instrument to Identify Factors that Impact ...

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Frontiers in Education (FIE) Conference

作者： Pablo Schoeffel Raul Sidnei Wazlawick Vinicius Faria Culmant Ramos Adilson Vahldick Marcelo de Souza Graduate Program in Computer Science Federal University of Santa Catarina Florianópolis Brazil Department of Informatics and Statistics Federal University of Santa Catarina Florianópolis Brazil Department of Information and Communication Technologies Federal University of Santa Catarina Araranguá Brazil Departament of Software Engineering University of Santa Catarina State Ibirama Brazil

ISBN: (纸本)9781538611753;9781538611746

This Research Paper presents the evaluation of an instrument to identify the impact of motivation and engagement factors in undergraduate students in computing. Although researches indicate a direct impact of motivation and engagement on student performance and retention, few studies have been found that address which factors are relevant in this process. The instrument is a questionnaire based on the compilation of several works of the literature containing 48 items divided into 6 groups: personal and demographic data, general perception about motivation, perception about the university, student behavior, perception about program and perception about classes/teachers. The questionnaire evaluation is based on a case study with 112 undergraduate students in Software engineering. As a result, we found that the questionnaire can be considered reliable (Cronbach's alpha = .8904). Considering the validity of constructs, we found an acceptable degree of correlation between the most pair of items in each group (averaging 63%). We also found that the item-total correlation coefficient was only not adequate for one factor group, indicating satisfactory correlation for all other items. Finally, we found that the number of factors is coherent, but there are several items from different groups strongly correlated, indicating the need for a reorganization.

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Identification of Pre-University Factors that Affect the Initial Motivation of Students in Computing programs: A multi-institutional case study

Identification of Pre-University Factors that Affect the Ini...

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Frontiers in Education (FIE) Conference

ISBN: (纸本)9781538611753;9781538611746

This Research to Practice Paper presents the results of the evaluation of pre-university factors that impact the initial motivation of undergraduate students in computing. Although there are studies in the literature that have investigated some previous factors, this paper replicates a previous work that aims to consolidate several pre-university factors and, as the main differential, uses the AMS (Academic Motivation Scale), a scale already consolidated in the literature to measure students' initial motivation, and evaluate the relation between motivation and candidate factors. We applied a questionnaire to 159 students from different computing programs in ten universities, which evaluates 20 factors divided into 4 groups: personal and demographic data, taste and knowledge of the program and area, computing experience, and school performance. To evaluate the correlation between factors and motivation, we used Spearman's coefficient, t-student test, and ANOVA to evaluate the correlation between factors and motivation. As main results, we found significant variation in the initial motivation according to following factors: taste for programming and technology, knowledge about the undergraduate program content, correct perception about computing professionals, knowledge and experience in computer programming, and general school performance.

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Generating Stories that Include Failed Actions by Modeling False Character Beliefs 13

Generating Stories that Include Failed Actions by Modeling F...

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13th AAAI Conference on Artificial Intelligence and Interactive Digital Entertainment, AIIDE 2017

作者： Thorne, Brandon R. Michael Young, R. Liquid Narrative Group Department of Computer Science NC State University RaleighNC27695 United States Liquid Narrative Group School of Computing The Entertainment Arts and Engineering Program University of Utah Salt Lake CityUT84112 United States

ISBN: (纸本)9781577357926

Previous work on story planning has lacked a knowledge representation for characters that make mistakes in the execution of their actions. In particular, characters' execution mistakes that arise from errors in belief have not been modeled. In this paper, we describe a state-space planning system and its belief model, together called HEADSPACE, that generates stories that track and manipulates characters' belief about the story world around them. This model is used to produce actions in stories that are attempted but that fail. We show an example story plan that contains failed-action content that cannot be generated by typical planning-based approaches to story creation. Copyright © 2017, Association for the Advancement of Artificial Intelligence (***). All rights reserved.

关键词： Knowledge representation

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Autonomous Exploration Guided by Optimisation Metaheuristic

Autonomous Exploration Guided by Optimisation Metaheuristic

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International Conference on Control, Automation, Robotics and Vision

作者： Raphael Gomes Santos Edison Pignaton de Freitas Sen Cheng Paulo Rogerio de Almeida Ribeiro Alexandre Cesar Muniz de Oliveira Federal University of Maranhão São Luís MA Brazil Graduate Program on Computer Science Federal University of Rio Grande do Sul Porto Alegre Brazil Computational Neuroscience Ruhr University Bochum Bochum Germany Department of Computer Engineering Federal University of Maranhão São Luís Maranhão Department of Informatics Federal University of Maranhão São Luís Maranhão

Autonomous exploration aims to develop mechanisms that enable a robot to navigate through an unknown environment, seeking to collect information that is relevant to its objective, with minimal or no human intervention. This article presents an autonomous exploration strategy based on a multimodal continuous utility function and optimization metaheuristic. The problem of autonomous exploration of mobile robots is formulated as an optimization problem, providing data for a Firefly-based algorithm that is able to search for points in the solution space, representing cells on the map being constructed, that best meet the exploration objectives. Simulations in a Robot Operating System environment showed that the proposed approach is able to guide robot through good trajectories, leading to full mapping, without any human intervention.

关键词： Linear programming Optimization Heuristic algorithms Robot kinematics Navigation Mobile robots

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Directing Intentional Superposition Manipulation 13

Directing Intentional Superposition Manipulation

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13th AAAI Conference on Artificial Intelligence and Interactive Digital Entertainment, AIIDE 2017

作者： Robertson, Justus Amos-Binks, Adam Michael Young, R. Liquid Narrative Group Department of Computer Science NC State University RaleighNC27695 United States Liquid Narrative Group School of Computing The Entertainment Arts and Engineering Program University of Utah Salt Lake CityUT84112 United States

ISBN: (纸本)9781577357926

Strong story interactive narratives (IN) are stories that branch based on participant actions where all branches conform to a set of predefined constraints. However, participants in these systems may create branches where the constraints no longer hold. Strong story experience management, the process of generating IN trees, can be viewed as a game where the experience management agent wins if the story constraints hold during gameplay and loses if they are broken. In domains where the player has incomplete information of the story world, the experience manager can take action by shifting the player between alternate states that are consistent with the player's observations in order to maximize the probability that constraints will hold. This process is called superposition manipulation. In this paper we present a method of estimating the number of goal states reachable from different states in order to make informed decisions during superposition manipulation. Copyright © 2017, Association for the Advancement of Artificial Intelligence (***). All rights reserved.

关键词： Artificial intelligence

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