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Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa Maria Jose Curras-Tuala Sara Pischedda Miriam Cebey-Lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao Alba Camino-Mera Isabel Ferreiros-Vidal Maximo Fraga Jose RAntunez rodolfo Gomez Federico Martinon-Torres Antonio salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)gene.However,the molecular mechanisms underlying HO remain poorly understood.As a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

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Fungal diversity notes 1277-1386:taxonomic and phylogenetic contributions to fungal taxa

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Fungal Diversity 2020年第5期104卷 1-266页

作者： Hai-Sheng Yuan Xu Lu Yu-Cheng Dai Kevin D.Hyde Yu-He Kan Ivana Kušan Shuang-Hui He Ning-Guo Liu V.Venkateswara Sarma Chang-Lin Zhao Bao-Kai Cui Nousheen Yousaf Guangyu Sun Shu-Yan Liu Fang Wu Chuan-Gen Lin Monika C.Dayarathne Tatiana Baptista Gibertoni Lucas B.Conceição Roberto Garibay-Orijel Margarita Villegas-Ríos rodolfo salas-lizana Tie-Zheng Wei Jun-Zhi Qiu Ze-Fen Yu Rungtiwa Phookamsak Ming Zeng Soumitra Paloi Dan-Feng Bao Pranami DAbeywickrama De-Ping Wei Jing Yang Ishara S.Manawasinghe Dulanjalee Harishchandra Rashika S.Brahmanage Nimali Ide Silva Danushka S.Tennakoon Anuruddha Karunarathna Yusufjon Gafforov Dhandevi Pem Sheng-Nan Zhang AndréL.C.Mde Azevedo Santiago Jadson Diogo Pereira Bezerra Bálint Dima Krishnendu Acharya Julieta Alvarez-Manjarrez Ali H.Bahkali Vinod K.Bhatt Tor Erik Brandrud Timur S.Bulgakov E.Camporesi Ting Cao Yu-Xi Chen Yuan-Yuan Chen Bandarupalli Devadatha Abdallah M.Elgorban Long-Fei Fan Xing Du Liu Gao Camila Melo Gonçalves Luis F.P.Gusmão Naruemon Huanraluek Margita Jadan Ruvishika S.Jayawardena Abdul Nasir Khalid Ewald Langer Diogo X.Lima Nelson Correia de Lima-Júnior Carla Rejane Sousa de Lira Jian-Kui(Jack)Liu Shun Liu Saisamorn Lumyong Zong-Long Luo Neven Matočec M.Niranjan JoséRibamar Costa Oliveira-Filho Viktor Papp Eduardo Pérez-Pazos Alan J.L.Phillips Peng-Lei Qiu Yihua Ren Rafael F.Castañeda Ruiz Kamal C.Semwal Karl Soop Carlos A.Fde Souza Cristina Maria Souza-Motta Li-Hua Sun Meng-Le Xie Yi-Jian Yao Qi Zhao Li-Wei Zhou CAS Key Laboratory of Forest Ecology and Management Institute of Applied EcologyChinese Academy of SciencesShenyang 110164People’s Republic of China University of the Chinese Academy of Sciences Beijing 100049People’s Republic of China School of Ecology and Nature Conservation Beijing Advanced Innovation Center for Tree Breeding By Molecular DesignBeijing Forestry UniversityBeijing 100083People’s Republic of China CAS Key Laboratory for Plant Diversity and Biogeography of East Asia Kunming Institute of BotanyChinese Academy of ScienceKunming 650201YunnanPeople’s Republic of China Centre of Excellence in Fungal Research Mae Fah Luang UniversityChiang Rai 57100Thailand School of Science Mae Fah Luang UniversityChiang Rai 57100Thailand Mushroom Research Foundation 128 M.3 Ban Pa Deng T.Pa PaeA.Mae TaengChiang Mai 50150Thailand East and Central Asia Regional Office World Agroforestry Centre(ICRAF)Kunming 650201YunnanChina Ruđer BoškovićInstitute Bijenička cesta 5410000 ZagrebCroatia Faculty of Agriculture Natural Resources and EnvironmentNaresuan UniversityPhitsanulok 65000Thailand Department of Biotechnology School of Life SciencesPondicherry UniversityR.V.NagarKalapetPondicherry 605014India College of Biodiversity Conservation Southwest Forestry UniversityKunming 650224People’s Republic of China Department of Botany Govt.College UniversityKatchery RoadLahorePakistan State Key Laboratory of Crop Stress Biology in Arid Areas and College of Plant Protection Northwest A&F UniversityYanglingShaanxiPeople’s Republic of China Laboratory of Plant Pathology College of Plant ProtectionJilin Agricultural UniversityChangchun 130118Jilin ProvincePeople’s Republic of China Centro de Biociências Departamento de MicologiaUniversidade Federal de PernambucoCidade UniversitáriaAvenida da Engenharia s/nRecifePernambuco 50740-600Brazil Departamento de Ciências Biológicas Universidade Estadual de Feira de SantanaAv.Transnordestina s/nNovo HorizonteFeira de SantanaBA 44036-900Brazil L

This is the twelfth contribution to the Fungal Diversity Notes series on fungal taxonomy,based on materials collected from many countries which were examined and described using the methods of morphology,anatomy,and strain culture,combined with DNA sequence analyses.110 taxa are described and illustrated,including five new genera,92 new species,eight new combinations and other taxonomic contributions(one new sequenced species,one new host and three new records)which are accommodated in 40 families and 1 incertae sedis in Dothideomycetes.The new genera are Amyloceraceomyces,Catenuliconidia,Hansenopezia,Ionopezia and Magnopulchromyces.The new species are Amyloceraceomyces angustisporus,Amylocorticium ellipsosporum,Arthrinium sorghi,Catenuliconidia uniseptata,Clavulina sphaeropedunculata,Colletotrichum parthenocissicola,Coniothyrium triseptatum,Cortinarius indorusseus,C.paurigarhwalensis,C.sinensis,C.subsanguineus,C.xiaojinensis,Diaporthe pimpinel-lae,Dictyosporella guizhouensis,Diplodia torilicola,Fuscoporia marquesiana,F.semiarida,Hansenopezia decora,Helicoarcta-tus thailandicus,Hirsutella hongheensis,Humidicutis brunneovinacea,Lentaria gossypina,L.variabilis,Lycoperdon lahorense,L.pseudocurtisii,Magnopulchromyces scorpiophorus,Moelleriella gracilispora,Neodevriesia manglicola,Neodidymelliopsis salvia,N.urticae,Neoroussoella magnoliae,Neottiella gigaspora,Ophiosphaerella chiangraiensis,Phaeotremella yunnanensis,Podosphaera yulii,Rigidoporus juniperinus,Rhodofomitopsis pseudofeei,Russula benghalensis,Scleroramularia vermispora,Scytinopogon minisporus,Sporormurispora paulsenii,Thaxteriellopsis obliqus,Tomentella asiae-orientalis,T.atrobadia,T.atrocastanea,T.aureomarginata,T.brevis,T.brunneoflava,T.brunneogrisea,T.capitatocystidiata,T.changbaiensis,T.citri-nocystidiata,T.coffeae,T.conclusa,T.cystidiata,T.dimidiata,T.duplexa,T.efibulata,T.efibulis,T.farinosa,T.flavidobadia,T.fuscocrustosa,T.fuscofarinosa,T.fuscogranulosa,T.fuscopelliculosa,T.globospora,T.gloeocystidiata,T.griseocastanea,T.griseofusca,T.griseomarginata

关键词： 110 taxa Agaricomycetes Ascomycota Basidiomycota Mucoromycota New combinations New genera New species Phylogeny Taxonomy

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Simulated Experiments for Teaching CAD Techniques Using Analytic and Finite Element Solutions of Electromagnetic Two-Dimensional Problems with Longitudinal Symmetry

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Journal of Electromagnetic Analysis and Applications 2019年第6期11卷 79-99页

作者： Antonio Flavio Licariao Nogueira rodolfo Lauro Weinert Leonardo Jose Amador salas Maldonado Santa Catarina State University JoinvilleBrazil

The paper describes an approach to teaching low-frequency electromagnetic CAD techniques to undergraduate students pursuing a degree course in electrical engineering. The simulated experiments make use of a two-dimensional open-access software based on the finite-element method. At the laboratory meetings, the problems are initially solved analytically. Upon this, students learn how to create the numeric model and how to define the sequence of field problems that lead to the required solution. Simulation tasks based on a force-producing electromagnet are used to introduce numeric techniques to determine magnetic field distribution, evaluation of energy storage and generation of magnetic forces. The nature of the magnetic force generated in the air gaps of the C-core electromagnet is explained in detail. Magnetic forces are calculated by the classical and weighted versions of the method of Maxwell stress tensor. The paper provides all the basic elements required for further exploration of devices with longitudinal symmetry.

关键词： Actuators Electromagnetic Engineering Education Energy Storage Finite Element Method Magnetic Forces

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An Introductory Note on Finite Element Problems Based on the Eddy Current Testing Approach

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Journal of Electromagnetic Analysis and Applications 2021年第11期13卷 145-159页

作者： Antônio Flavio Licarião Nogueira rodolfo Lauro Weinert Leonardo José Amador salas Maldonado Department of Electric Engineering Santa Catarina State University Joinville Brazil

The paper addresses the first eddy current benchmark problem proposed by the World Federation of Nondestructive Evaluation Centers (WFNDEC). The problem simulates the eddy current response to the presence of an axisymmetric circumferential defect in an Inconel-600 tube. All simulations employ the axisymmetric code of the electromagnetic field simulator Finite Element Method Magnetics. For three different frequencies of excitation, it is explained how the displacement of the detecting coil inside the tube leads to a variation in the impedance of the eddy current coil. Variations of the resistive and inductive components of the impedance with distance from the defect region are used to build the impedance trajectory for each frequency of analysis.

关键词： Eddy Current Testing Finite Element Analysis Nondestructive Inspection Methods

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Finite Element CAD Experiments on the Effect of Magnetic Loss in Power Transformers with Laminated Cores

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Journal of Electromagnetic Analysis and Applications 2021年第1期13卷 1-19页

作者： Antônio Flavio Licarião Nogueira rodolfo Lauro Weinert Leonardo José Amador salas Maldonado Department of Electric Engineering Santa Catarina State University Joinville Santa Catarina Brazil

The paper describes a simulated experiment that focuses on the numeric computation of magnetic loss in the laminated core of a single-phase power transformer. The students’ laboratory work is part of the library of experiments of the Electrical Machines virtual laboratory and makes use of the two-dimensional open-access electromagnetic field analysis software Finite Element Method Magnetics. The idea of the simulated exercise is to demonstrate how the magnetic loss caused by time-varying excitations affects the magnetic permeability, μ, of the laminated core and the terminal quantities of the energizing winding. A parametric analysis employing different values for the electrical conductivity and maximum hysteresis-induced angle of the laminated material yields five different field problems with increasing magnetic loss. Electric circuits characterized by the (I-V) operating point and reflected impedance of the energizing winding provide the information required to compute the changes in real power ΔP, reactive power ΔQ and magnetically stored energy ΔWm between successive problems characterized by increasing magnetic loss. The concept of reflected impedance helps to explain the physical meaning of the changes in power dissipation and energy storage in the laminated core.

关键词： Eddy Currents Electromagnetic Engineering Education Finite Element Analysis Hysteresis Magnetic Loss Transformer Cores

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