Thematische Bibliographien / Variants structurels

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Auswahl der wissenschaftlichen Literatur zum Thema „Variants structurels“

Autor: Grafiati

Veröffentlicht am 22. Februar 2025

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Zeitschriftenartikel zum Thema "Variants structurels"

Tang, Ziyang. „A Study on the Relationship between the 3-D Structure of Spike Proteins and Infectiousness of SARS-CoV-2 Delta Variant“. Highlights in Science, Engineering and Technology 8 (17.08.2022): 169–77. http://dx.doi.org/10.54097/hset.v8i.1124.

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Since the outbreak of novel coronavirus pneumonia in Wuhan in 2019, the SARS-CoV-2 epidemic has become a hot topic. Over time, SARS-CoV-2 has evolved many variants. The diversity of the 3-D structure of the variant’s proteins resulted in the difference in the binding ability and infectious differences between different virus variants and human angiotensin-converting enzyme 2 (ACE2) receptors. In 2020, an evolutionary analysis of the Delta and Delta Plus variants of SARS-CoV-2 provided a three-dimensional model of the protein of the delta variant. However, it only focused on the delta variant and Delta plus variant themselves and did not compare the delta variant or delta plus variant with the original strain. It is hard to give a direct or apparent reason why the delta variant is more infectious and difficult to cure than the original strain. Therefore, this paper further compared the 3-D structures of homologous trimeric spike glycoproteins (S-proteins) and the receptor-binding domain between the SARS-COV-2 original strain and the SARS-COV-2 delta variant. By observing and analyzing the models of the above proteins in the PyMOL Molecular Graphics System, the reasons for the increase of infectivity of the delta variant can be interpreted in a direct way. This article also focuses on the data of the Indian cases from the JHU database to deeply analyze the relationship between the structure and transmission ability of the SARS-CoV-2 delta variant. Last but not least, the reproductive ability of SARS-CoV-2 can be reflected by the number of NAG (2-acetamido-2-deoxy-beta-D-glucopyranose). Through data analysis and protein structure research, we can better understand the characteristics of the binding of SARS-CoV-2 to the human receptor, thus providing a theoretical basis for accurately predicting virus variation. Through the comparative study of virus structure and infectiousness, this paper will provide a scientific basis for the relevant departments to improve epidemic prevention and improve the public's vigilance against virus variants.

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Parasonis, J., und G. Ambrasas. „AN ANALYSIS OF FACTORS FOR THE SELECTION OF A TECHNICAL SOLUTION VERSION IN THERMAL RENOVATION OF BUILDINGS/ŠILUMINĖS RENOVACIJOS TECHNINIO SPRENDIMO VARIANTO PASIRINKIMO VEIKSNIŲ ANALIZĖ“. JOURNAL OF CIVIL ENGINEERING AND MANAGEMENT 1, Nr. 4 (31.12.1995): 67–74. http://dx.doi.org/10.3846/13921525.1995.10531534.

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Susistemintai nagrinėjamas šiluminės renovacijos techninio sprendimo varianto parinkimas. Renovacijos procesas analizuojamas keturiose stadijose: tikslų-projektavimo-statybos-eksploatacijos. Šiluminės renovacijos varianto pasirinkimą įtakoja daugelis veiksnių. Straipsnyje nagrinėjama veiksnių įtaka tiek atskirai stadijai, tiek visam renovacijos procesui. Atkreipiamas dėmesys į priešprojektinės diagnostikos svarbą teisingai įvertinant pastato būklę, galimus sprendimų apribojimus ir formuojant renovacijos techninio sprendimo alternatyvius variantus. Kalbama apie skirtingų konstruktyvinių sprendimų privalumus ir trūkumus, įtakojančius pasirinkimą. Atkreipiamas dėmesys į tai, kad, atlikus šiluminę renovaciją, gali tekti tvarkyti inžinerinę pastato įrangą. Pažymima kokybinių rodiklių, pvz., estetiškumo ir komfortabilumo, siekimo įtaka parenkant variantą. Aptariamas susistemintas požiūris į techninio sprendimo varianto pasirinkimą pateikiamas algoritmine forma. Pasirinkta metodika, kuomet investicinis procesas nagrinėjamas nuosekliai pagal tikslų-projektavimo-statybos-eksploatacijos stadijas, leidžia daryti prielaidą, jog tokiu būdu pavyksta įvertinti daugelį sprendimo priėmimą. įtakojančių veiksnių.

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Iqbal, Sumaiya, David Hoksza, Eduardo Pérez-Palma, Patrick May, Jakob B. Jespersen, Shehab S. Ahmed, Zaara T. Rifat et al. „MISCAST: MIssense variant to protein StruCture Analysis web SuiTe“. Nucleic Acids Research 48, W1 (13.05.2020): W132—W139. http://dx.doi.org/10.1093/nar/gkaa361.

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Abstract Human genome sequencing efforts have greatly expanded, and a plethora of missense variants identified both in patients and in the general population is now publicly accessible. Interpretation of the molecular-level effect of missense variants, however, remains challenging and requires a particular investigation of amino acid substitutions in the context of protein structure and function. Answers to questions like ‘Is a variant perturbing a site involved in key macromolecular interactions and/or cellular signaling?’, or ‘Is a variant changing an amino acid located at the protein core or part of a cluster of known pathogenic mutations in 3D?’ are crucial. Motivated by these needs, we developed MISCAST (missense variant to protein structure analysis web suite; http://miscast.broadinstitute.org/). MISCAST is an interactive and user-friendly web server to visualize and analyze missense variants in protein sequence and structure space. Additionally, a comprehensive set of protein structural and functional features have been aggregated in MISCAST from multiple databases, and displayed on structures alongside the variants to provide users with the biological context of the variant location in an integrated platform. We further made the annotated data and protein structures readily downloadable from MISCAST to foster advanced offline analysis of missense variants by a wide biological community.

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Zavadskas, Edmundas K., Artūras Kaklauskas und Zenonas Turskis. „MULTICRITERIA DECISION-MAKING SYSTEM FOR BUILDING REFURBISHMENT/PASTATŲ ATNAUJINIMO DAUGIAKRITERINĖ SPRENDIMŲ PRIĖMIMO SISTEMA“. JOURNAL OF CIVIL ENGINEERING AND MANAGEMENT 3, Nr. 12 (31.12.1997): 62–68. http://dx.doi.org/10.3846/13921525.1997.10531368.

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Šiame straipsnyje pastatų atnaujinimas suprantamas kaip statybinė veikla, kurios tikslas pertvarkyti esamą statinį, siekiant pašalinti jo fizinį, ekonominį, inžinerinės įrangos, teisinį, architektūrinį-estetinį, funkcinį, komfortinį, eksploatacinį, socialinį ir kitokį nusidėvėjimą. Į pastatų atnaujinimo poreikį galima žiūrėti kaip į skirtumą tarp esamos pastato padėties ir norimos. Pastatų atnaujinimą galima atlikti naudojant alternatyvias medžiagas, konstrukcijas, inžinerinę įrangą, technologijas ir pan. Pagal naudojamų sprendimų variantus keičiasi atnaujinamo pastato efektyvumas. Sprendimų variantiškumas leidžia racionaliau ir realiau įvertinti ekonomines, klimato, teisines, socialines sąlygas, tradicijas; atpiginti projektą; geriau tenkinti architektūrinius, komfortinius, funkcinius, eksploatacinius ir kitus užsakovo poreikius. Atnaujinimas gali būti minimalus (dalinio fizinio pastato nusidėvėjimo (stogeliai, balkonai, karnizai, siūlės) pašalinimas), maksimalus (kai visi nusidėvėjimai pašalinami) arba kuris nors tarpinis variantas (dalinė ar kompleksinė šiluminė renovacija, šildymo sistemos reguliavimo ir apskaitos diegimas, racionalus normatyvų bazės paruošimas ir t.t.). Pastato atnaujinimo varianto parinkimas daugiausia priklauso nuo gyventojų poreikių ir esamų finansinių galimybių. Siekiant nustatyti efektyvų atnaujinimo variantą, buvo sukurta pastatų atnaujinimo daugiakriterinė sprendimų priėmimų sistema, susidedanti is žinių bazės ir sprendimų priėmimo posistemio. Žinių bazėje kaupiama įvairi informacija, sudaranti sąlygas sprendimų priėmimų posistemiui efektyviai atlikti pastatų atnaujinimo variantinį projektavimą bei daugiakriterinę analizę. Žinių bazė susideda iš tokių dalių: pradinių duomenų žinių lentelių; atnaujinimo įvertinimo žinių lentelių, t.y. lentelių, kuriose pateikiama informacija apie alternatyvius atnaujinimo variantus (pastatų elementų, inžinerinės įrangos ir pan.); variantinio projektavimo žinių lentelių, t.y. lentelių, kuriose pateikiama informacija apie galimas alternatyvių atnaujinimo sprendimų tarpusavio derinių kombinacijas; grafinės dalies žinių lentelių, kuriose pateikiama grafinė atnaujinimo variantus apibūdinanti informacija; žinių lentelių užpildymo rekomendacijų. Sprendimų priėmimo posistemyje yra užprogramuoti tokie autorių pasiūlyti metodai: projektų variantinio projektavimo; kriterijų reikšmingumo nustatymo; projektų sistemotechninės analizės; projektų naudingumo laipsnio ir sutartinės kainos nustatymo. Skaičiavimo metu kartu su pradiniais duomenimis ESM atmintyje iš žinių bazės kaupiama informacija, tiesiogiai susijusi su sprendžiama problema. Tokiu būdu ESM atmintyje suformuojama visa nagrinėjamas alternatyvas išsamiai apibūdinanti informacija. Išanalizavus visą šią informaciją ir jos tarpusavio ryšius bei atlikus daugelį veiksmų, sprendimų priėmimų posistemis suformuoja galimus pastatų atnaujinimo variantus. Po to šis posistemis, remdamasis užsakovo pateiktais pradiniais duomenimis (esamos finansinės galimybės, norimas atnaujinimo lygis ir pan.), išrenka efektyviausią alternatyvą.

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Rychen, Jonathan, Daniel W. Zumofen, Howard A. Riina, Luigi Mariani und Raphael Guzman. „The Transpalpebral Versus the Transciliary Variant of the Supraorbital Keyhole Approach: Anatomic Concepts for Aneurysm Surgery“. Operative Neurosurgery 19, Nr. 1 (12.12.2019): E24—E31. http://dx.doi.org/10.1093/ons/opz358.

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Abstract BACKGROUND The supraorbital craniotomy (SOC) is classically performed through a skin incision in the patient's eyebrow. A variant with a skin incision in the patient's eyelid has become increasingly popular in recent years. OBJECTIVE To compare the transpalpebral and the transciliary variants of the SOC with regard to their potential role in aneurysm surgery. METHODS We carried out cadaveric dissections and virtual craniotomies on computerized tomography datasets. The skin incision, the craniotomy location and size, the working angles, and the achievable exposure of neurovascular structures were assessed and compared for both variants of the SOC. RESULTS The skin incision measured 4 cm for the transpalpebral and 3 cm for the transciliary variant. The skin could be retracted 1.5 cm upward from the lower edge of the orbital rim with the transpalpebral and 2.5 cm upward with the transciliary variant. The craniotomy size was 2.5 × 1.5 cm for both variants, given that the transpalpebral variant included an orbital osteotomy. The bony opening in the transpalpebral variant was 1 cm more caudal; this restricted the craniocaudal working angles and, thereby, limited the achievable exposure of neurovascular structures in the paraclinoid area and along the sphenoid ridge. CONCLUSION If the orbital rim and the anterior aspect of the orbital roof are removed, then the transpalpebral variant of the SOC enables a bony opening that is just as large as that of the transciliary variant. Nonetheless, the more caudal location of the bony opening alters the available working angles and may impede exposure of key structures during aneurysm surgery.

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Glavaški, Mila, Aleksandra Ilić und Lazar Velicki. „Gene-Specific Discriminative Echocardiogram Findings in Hypertrophic Cardiomyopathy Determined Using Artificial Intelligence: A Pilot Study“. Cardiogenetics 14, Nr. 1 (25.12.2023): 1–25. http://dx.doi.org/10.3390/cardiogenetics14010001.

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Hypertrophic cardiomyopathy (HCM) is among the most common forms of cardiomyopathies, with a prevalence of 1:200 to 1:500 people. HCM is caused by variants in genes encoding cardiac sarcomeric proteins, of which a majority reside in MYH7, MYBPC3, and TNNT2. Up to 40% of the HCM cases do not have any known HCM variant. Genotype–phenotype associations in HCM remain incompletely understood. This study involved two visits of 46 adult patients with a confirmed diagnosis of HCM. In total, 174 genes were analyzed on the Next-Generation Sequencing platform, and transthoracic echocardiography was performed. Gene-specific discriminative echocardiogram findings were identified using the computer vision library Fast AI. This was accomplished with the generation of deep learning models for the classification of ultrasonic images based on the underlying genotype and a later analysis of the most decisive image regions. Gene-specific echocardiogram findings were identified: for variants in the MYH7 gene (vs. variant not detected), the most discriminative structures were the septum, left ventricular outflow tract (LVOT) segment, anterior wall, apex, right ventricle, and mitral apparatus; for variants in MYBPC3 gene (vs. variant not detected) these were the septum, left ventricle, and left ventricle/chamber; while for variants in the TNNT2 gene (vs. variant not detected), the most discriminative structures were the septum and right ventricle.

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Hefer, Tsila, Henry Z. Joachims, Arie Eitan und Mariana Munichor. „Are the morphology of papillary thyroid carcinoma and the tumour's behaviour correlated?“ Journal of Laryngology & Otology 110, Nr. 7 (Juli 1996): 704–5. http://dx.doi.org/10.1017/s0022215100134693.

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AbstractSix cases of papillary thyroid carcinoma showing clinically highly aggressive behaviour by invading the upper airway and digestive tract structures were retrospectively reviewed to evaluate the morphological variants of the tumours. Four of them were found to be pure papillary and one was a mixed-papillary and follicular-variants regarded as non-aggressive. Only one case was found to be tall cell variant – regarded as an aggressive variant of papillary thyroid carcinoma. The findings suggest that the prognosis of papillary thyroid carcinoma cannot be predicted from its morphological variant and attention should be given to other clinical parameters.

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Treuheit, M. J., C. E. Costello und H. B. Halsall. „Analysis of the five glycosylation sites of human α1-acid glycoprotein“. Biochemical Journal 283, Nr. 1 (01.04.1992): 105–12. http://dx.doi.org/10.1042/bj2830105.

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Orosomucoid (OMD) contains complex bi-, tri- and tetra-antennary glycan chains. Subfractionation of OMD into three molecular variants using concanavalin A lectin chromatography is based on variations in these complex structures. Standard h.p.l.c. profiles have been developed to analyse the percentage and distribution of the glycoforms present at each glycosylation site in OMD and its molecular variants. The ability to quantify the glycoforms present at each site allows us to extend the earlier results of others and resolve the remaining questions concerning the glycan structures of these variants. Most significantly, the proportions of bi-, tri- and tetra-antennary chains differ at each site for the three molecular variants. The most strongly retained variant from concanavalin A is uniquely capable of possessing biantennary chains at all five sites, whereas the unretained variant is completely devoid of biantennary chains. Only glycosylation site II of the five present is 100% biantennary in the retained and weakly retained variants. In addition, the two gene products of OMD were differentially glycosylated. Molecular masses of the glycoforms were verified by matrix-assisted u.v. laser desorption mass spectrometry. On the basis of the site distribution of oligosaccharides in the variants, efforts were made to understand the factors that control the processing of the carbohydrate chains in OMD. The results indicate that the ‘site-directed’ model of processing offers the most consistent explanation for the structures seen at the individual glycosylation sites of OMD.

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Möller, Steffen, Eilhard Mix, Martin Blüggel, Pablo Serrano-Fernández, Dirk Koczan, Vasilis Kotsikoris, Manfred Kunz et al. „Collection of Soluble Variants of Membrane Proteins for Transcriptomics and Proteomics“. In Silico Biology: Journal of Biological Systems Modeling and Multi-Scale Simulation 5, Nr. 3 (Januar 2005): 295–311. https://doi.org/10.3233/isb-00188.

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The existence of a soluble splice variant for a gene encoding a transmembrane protein suggests that this gene plays a role in intercellular signalling, particularly in immunological processes. Also, the absence of a splice variant of a reported soluble variant suggests exclusive control of the solubilisation by proteolytic cleavage. Soluble splice variants of membrane proteins may also be interesting targets for crystallisation as their structure may be expected to preserve, at least partially, their function as integral membrane proteins, whose structures are most difficult to determine. This paper presents a dataset derived from the literature in an attempt to collect all reported soluble variants of membrane proteins, be they splice variants or shedded. A list of soluble variants is derived in silico from Ensembl. These are checked on their presence in multiple organisms and their number of membranespanning regions is inspected. The findings then are confirmed by a comparison with identified proteins of a recent global proteomics study of human blood plasma. Finally, a tool to support the identification of novel soluble variants by proteomics is provided.

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Delers, Francisco, Gérard Strecker und Robert Engler. „Glycosylation of chicken haptoglobin: Isolation and characterization of three molecular variants and studies of their distribution in hen plasma before and after turpentine-induced inflammation“. Biochemistry and Cell Biology 66, Nr. 3 (01.03.1988): 208–17. http://dx.doi.org/10.1139/o88-028.

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Chicken haptoglobin (Hp), a hemoglobin-binding protein isolated from chicken plasma, is composed of three molecular variants that react differently with concanavalin A (ConA). These glycosylation variants of chicken Hp have been isolated by affinity chromatography using Sepharose-bound ConA. They differ in their molecular weight, as determined by polyacrylamide gel electrophoresis in the presence of sodium dodecyl sulfate. Analysis of the glycopeptides obtained after pronase digestion of these variants yielded two types of structures: one, reactive with ConA, corresponded to a biantennary N-linked carbohydrate unit and one, unreactive with ConA, corresponded to a triantennary unit. The strongly ConA-reactive Hp variant bears only two biantennary units and the nonreactive Hp variant bears only two triantennary units; the weakly reactive Hp variant bears equal amounts of both units. The distribution of Hp glycosylation variant does not show any significant difference when obtained from the plasma of laying hens before and after turpentine-induced inflammation.

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Dissertationen zum Thema "Variants structurels"

Loegler, Victor. „The genotype-phenotype relationship through the pangenome perspective“. Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ071.

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La variation génomique au sein d'une espèce constitue la base de la variation phénotypique héréditaire sur laquelle agit la sélection naturelle. Cependant, explorer le rôle des variants structurels (SV, plus de 50 paires de bases) sur la variation des traits reste un défi en raison de la difficulté à les détecter. Cette thèse vise à étudier l'impact phénotypique de ces variants en utilisant une population de plus de 1000 isolats de la levure Saccharomyces cerevisiae. La construction du pangénome à l'aide d'assemblages quasi-télomères-à-télomères a permis la création d'un catalogue complet de variants génomiques. Des études d'association avec plus de 8 000 caractères ont révélé l'impact relativement plus important des SV sur la variation des caractères, ainsi que des divergences entre l’architecture génétique de différents types de caractères. L'ensemble de ces travaux met en évidence le large impact phénotypique des grands variants génomiques au niveau de l'espèce
Genomic variation within a species provides the basis for the heritable phenotypic variation upon which natural selection acts. However, exploring the role of structural variants (SVs, more than 50 base pairs) on trait variation remains a challenge due to the difficulty of detecting them. This thesis research aims to address the phenotypic impact of such variants by leveraging a natural population of over a thousand isolates of the budding yeast Saccharomyces cerevisiae. Pangenome construction using near telomere-to-telomere assemblies enabled the creation of a comprehensive catalog of genomic variants. Association studies with more than 8,000 molecular and organismal traits revealed the relatively higher impact of SVs on traits variation, and discrepancies in the genomic basis of different types of traits. Together, this work highlights the strong phenotypic effect of large genomic variants at the species level

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Jorge, Susan Elisabeth Domingues Costa 1983. „Correlação estrutura-função de variantes da hemoglobina humana = Structure-function relations of human hemoglobin variants“. [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/310885.

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Orientadores: Maria de Fatima Sonati, Munir Salomão Skaf
Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
Made available in DSpace on 2018-08-23T23:13:39Z (GMT). No. of bitstreams: 1 Jorge_SusanElisabethDominguesCosta_D.pdf: 8714965 bytes, checksum: 3191d67be1e9be2f9782ce3483bcfd3a (MD5) Previous issue date: 2013
Resumo: O resumo poderá ser visualizado no texto completo da tese digital
Abstract: The complete abstract is available with the full electronic document
Doutorado
Ciencias Biomedicas
Doutora em Ciências Médicas

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Bruce, David. „Antithrombin : structural variants and thrombosis“. Thesis, Open University, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.386084.

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Lecompte, Lolita. „Structural variant genotyping with long read data“. Thesis, Rennes 1, 2020. http://www.theses.fr/2020REN1S054.

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Les variants de structure (SVs) sont des réarrangements génomiques de plus de 50 paires de base et restent encore aujourd'hui peu étudiés malgré les impacts importants qu'ils peuvent avoir sur le fonctionnement des génomes. Récemment, les technologies de séquençage de troisième génération ont été développées et produisent des données de longues lectures qui s'avèrent très utiles car elles peuvent chevaucher les réarrangements. À l'heure actuelle, les méthodes bioinformatiques se sont concentrées sur le problème de la découverte de SVs avec des données de longues lectures. Aucune méthode n'a cependant été proposée pour répondre spécifiquement à la question du génotypage de SVs avec ce même type de données. L'objectif du génotypage de SVs vise pour un ensemble de SVs donné à évaluer les allèles présents dans un nouvel échantillon séquencé. Cette thèse propose une nouvelle méthode pour génotyper des SVs avec des longues lectures et repose sur la représentation des séquences des allèles. Notre méthode a été implémentée dans l'outil SVJedi. Nous avons testé notre outil à la fois sur des données simulées et réelles afin de valider notre méthode. SVJedi obtient une précision élevée qui dépasse les performances des autres outils de génotypage de SVs, notamment des outils de détection de SVs et des outils de génotypage de SVs de lectures courtes
Structural Variants (SVs) are genomic rearrangements of more than 50 base pairs. Since SVs can reach several thousand base pairs, they can have huge impacts on genome functions, studying SVs is, therefore, of great interest. Recently, a new generation of sequencing technologies has been developed and produce long read data of tens of thousand of base pairs which are particularly useful for spanning over SV breakpoints. So far, bioinformatics methods have focused on the SV discovery problem with long read data. However, no method has been proposed to specifically address the issue of genotyping SVs with long read data. The purpose of SV genotyping is to assess for each variant of a given input set which alleles are present in a newly sequenced sample. This thesis proposes a new method for genotyping SVs with long read data, based on the representation of each allele sequences. We also defined a set of conditions to consider a read as supporting an allele. Our method has been implemented in a tool called SVJedi. Our tool has been validated on both simulated and real human data and achieves high genotyping accuracy. We show that SVJedi obtains better performances than other existing long read genotyping tools and we also demonstrate that SV genotyping is considerably improved with SVJedi compared to other approaches, namely SV discovery and short read SV genotyping approaches

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Seabra, Catarina Morais. „Rare structural variants in severe spermatogenic impairment“. Master's thesis, Universidade de Aveiro, 2012. http://hdl.handle.net/10773/9537.

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Mestrado em Biomedicina Molecular
A azoospermia afeta aproximadamente 15% de todos os homens inférteis e é frequentemente causada por anomalias cromossómicas e microdeleções do cromossoma Y. No entanto, em aproximadamente 70% dos casos de azoospermia não-obstrutiva (NOA) as causas permanecem por identificar. Nos últimos anos, a descoberta de variantes genómicas de número de cópia (CNVs), como as causadas por deleções, revelou uma fonte de variação genómica que afecta a dosagem génica e que poderá resultar em haploinsuficiência. De facto, observa-se uma sobre-representação de CNVs raros (<1% na população), sobretudo de grandes deleções de novo, em pacientes com diferentes distúrbios do desenvolvimento, comparados com controlos saudáveis. Porém, uma possível contribuição, para a infertilidade masculina, de variantes estruturais ligados ao cromossoma X e aos autossomas foi ainda pouco explorada. Este estudo foca-se na validação de deleções encontradas apenas em pacientes inférteis, no cromossoma X e em 11p13, que contêm genes candidatos a participar na espermatogénese. Estas deleções, previamente identificadas por arrays de oligonucleótidos, de elevada densidade (Affymetrix 6.0 SNP Array), numa coorte de 171 pacientes Portugueses com disfunção severa da espermatogénese (NOA e oligozoospermia severa), foram agora confirmadas por técnicas convencionais de genética molecular. Adicionalmente, a caraterização dos locais de quebra nestas deleções foi realizada por aCGH. Ainda que não se tenham validado as deleções menos extensas (em Xq21.1, Xq25, Xp11.4, Xq22.1 e Xq26.3), confirmou-se a nulizigotia em Xq28 nestes indivíduos, que abrange genes candidatos com uma função sugestiva na espermatogénese: MAGE-A8, expresso em testículo e em alguns cancros e o microRNA hsa-miR-4330, envolvido na regulação pós-transcricional de vários genes com expressão na linha germinal. Foi ainda validada, por MLPA, uma deleção extensa num paciente infértil não-sindrómico da nossa coorte. Estes resultados apontam a haploinsuficiência de WT1 como a causa mais provável de azoospermia neste paciente, já que não foram detetadas mutações germinais no alelo restante. Mutações no gene WT1, que codifica um factor de transcrição muito conservado, crucial para o desenvolvimento e manutenção gonadal em mamíferos, geralmente interferem com a ligação desta proteína ao DNA e estão principalmente associadas a síndromes que envolvem anomalias reprodutivas. Motivados pela nossa descoberta de uma deleção de WT1 num homem infértil embora saudável, decidimos abordar a contribuição de mutações exónicas no gene WT1 para a azoospermia isolada. Testámos a hipótese de que mutações localizadas em domínios que não aqueles essenciais à ligação ao DNA pudessem resultar na disfunção não-sindrómica da espermatogénese. Assim, analisámos a sequência codificante de WT1 num subgrupo de 40 pacientes azoospérmicos. Como resultado, descrevemos uma nova variação missense c.185C>T (P130L; ENST00000332351) no primeiro exão de WT1, inserida no domínio proteico de auto-associação. A nova variante descrita deverá ter um impacto menos drástico na função da proteína WT1, comparativamente com as mutações descritas no mesmo exão até à data, as quais resultam em proteínas truncadas e fenótipos severos de disfunção gonadal, incluindo a formação de tumores renais. Estes resultados revelam novos genes candidatos a um papel na espermatogénese e sugerem que a haploinsuficiência de proteínas importantes para o desenvolvimento do sistema reprodutor masculino podem resultar em azoospermia. Estudos futuros poderão clarificar a utilidade dos nossos genes candidatos como biomarcadores da infertilidade masculina. A implementação de novos biomarcadores beneficiaria os doentes azoospérmicos através da melhoria do diagnóstico, aconselhamento genético e acompanhamento destes pacientes, podendo vir a limitar a necessidade de procedimentos invasivos.
Azoospermia affects approximately 15% of all infertile males and it is frequently caused by chromosomal abnormalities and Yq microdeletions. However, despite considerable research efforts in the last decades, in approximately 70% of the cases of non-obstructive azoospermia (NOA) the causes are yet to be identified. In the last years, the discovery of genomic copy number variants, such as those caused by deletions, revealed a source of genomic variation which impacts gene dosage and may result in haploinsufficiency. In fact, rare CNVs (<1% population), mainly large de novo deletions, are over-represented in patients with different developmental disorders, compared to healthy controls. However, a possible contribution of X-linked and autosomal structural variants to male infertility is still largely unexplored. This study focused on the validation of rare patient-specific deletions found on the X chromosome and at 11p13 of infertile patients, which harbor candidate spermatogenesis genes. These deletions had been previously identified by high density oligonucleotide arrays (Affymetrix 6.0 SNP Array), in a cohort of 171 Portuguese patients with severe spermatogenic impairment (non-obstructive azoospermia and severe oligozoospermia) and were now confirmed by conventional molecular genetics techniques. Additionally, breakpoint characterization was carried out by aCGH. In fact, even though the smaller deletions (at Xq21.1, Xq25, Xp11.4, Xq22.1 and Xq26.3) were not validated, we confirmed nullizygosity at Xq28 in two patients, spanning either MAGE-A8, a known cancer-testis antigen, or hsa-miR-4330, a microRNA involved in post-transcription regulation, both with a suggestive role in spermatogenesis pathways. We have also validated by MLPA a large deletion at 11p13, in a non-syndromic infertile patient from our cohort. These results support WT1 haploinsufficiency as the likely cause of azoospermia in this patient, as no other germline mutations were detected in the remaining WT1 copy. Mutations in WT1, an evolutionarily conserved transcription factor crucial for gonadal development and maintenance in mammals, typically interfere with the DNA-binding properties of the protein and are mainly associated with syndromes involving reproductive abnormalities. Motivated by our finding of a WT1 deletion in an infertile but otherwise healthy man we addressed the contribution of WT1 exonic mutations to isolated azoospermia. We reasoned that mutations located in domains not essential for DNA binding could result in non-syndromic spermatogenic impairment. Thus, we analyzed the WT1 coding sequence in a subgroup of 40 azoospermic patients. As a result of the exon screening, we report a novel c.185C>T (P130L; ENST00000332351) WT1 missense variant on exon 1, within the protein self-association domain. While all exon 1 mutations as yet reported result in truncated proteins and severe phenotypes, including the formation of renal tumors, this novel variant is expected to have a milder impact on WT1 function. These results reveal new candidate genes for a role in spermatogenesis and suggest that haploinsufficiency of proteins important for the development of the male reproductive system can lead to azoospermia. Further studies will clarify the utility of our candidate genes as biomarkers of male infertility. The implementation of new biomarkers would benefit azoospermic men by improving diagnosis, genetic counseling and patient care, eventually limiting the need for invasive procedures.

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Toyama, Brandon Hiroyuki. „The structural basis of yeast prion strain variants“. Diss., Search in ProQuest Dissertations & Theses. UC Only, 2009. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3378511.

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Viñas, Jornet Marina. „Identificació de variants en nombre de còpies i correlació clínica en una població adulta amb discapacitat intel·lectual i trastorns psiquiàtrics i/o conductuals“. Doctoral thesis, Universitat Autònoma de Barcelona, 2016. http://hdl.handle.net/10803/369041.

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El genoma humà està constituït per 3 bilions de parells de bases, que inclouen aproximadament 20.000-25.000 gens, i presenta una variabilitat en forma de variants en la seqüència i variants estructurals. L’aparició de noves tecnologies moleculars han revelat l’existència d’una gran quantitat de variants en nombre de còpies (CNVs) que representen canvis de dosi (guanys i pèrdues de material) descrits en el 4,8%-9,5% del genoma. Tot i identificar-se en població sana, s’ha reconegut que tenen una contribució en l’expressió gènica, l’estructura proteica i l’estabilitat cromosòmica i, en conseqüència, ha incrementat l’interès per entendre el paper que tenen les CNVs en malalties com la discapacitat intel·lectual i els trastorns psiquiàtrics. La discapacitat intel·lectual afecta entre l’1-3% dels individus i les millores en el seguiment mèdic dels pacients han contribuït en una major supervivència fins a etapes adultes, en les que es posa de manifest una gran incidència de trastorns psiquiàtrics i de la conducta associats. Amb l’objectiu de determinar l’etiologia genètica del diagnòstic dual de discapacitat intel·lectual i trastorns psiquiàtrics i/o de la conducta en una cohort de 100 adults i identificar CNVs de susceptibilitat per aquesta patologia, s’ha aplicat una estratègia d’anàlisi genètica seqüencial. Inicialment es realitza un cariotip amb bandes G, un cribatge de la síndrome X fràgil i estudis moleculars dirigits a la confirmació de la sospita clínica d’una síndrome específica. Per aquells casos que són negatius, es realitza un cribatge de CNVs submicroscòpiques de les regions subtelomèriques mitjançant multiplex ligation dependent probe amplification i posteriorment un cribatge del genoma amb un array d’hibridació genòmica comparada(aCGH) d’alta resolució (400k). S’ha establert una elevada freqüència diagnòstica (38%) en la cohort d’adults amb diagnòstic dual. La co-morbiditat d’un segon trastorn psiquiàtric augmenta la probabilitat de causa genètica. S’ha determinat un alt rendiment diagnòstic del cariotip molecular, pel que es proposa l’aCGH com a primera tècnica per l’estudi del diagnòstic dual. Mitjançant la caracterització de les CNVs, s’han identificat gens candidats que predisposen a discapacitat intel·lectual i trastorns psiquiàtrics, majoritàriament implicats en les primeres etapes del desenvolupament, amb expressió a sistema nerviós i de localització sinàptica. Hi ha gens que participen en les vies glutamatèrgiques i de les ubiquitines i gens implicats en mecanismes oxidatius. La valoració del grau de discapacitat intel·lectual, dels trastorns psiquiàtrics, dels trastorns de la conducta i la dismorfologia presents en els pacients ha permès establir una correlació genotip-fenotip, identificant CNVs associades al diagnòstic dual en el 19% dels casos i CNVs en regions candidates: dup3q29 (FBXO45, PAK2), del7q31.1 (IMMP2L), del8p23.1 (MSRA), del8q21.13 (STMN2), dup9p24.2p24.1 (SLC1A1), del10q21.3 (CTNNA3), dup15q14q15.1 (SPRED1), del15q26.2 (MCTP2), dup17q24.1q24.2 (PRKCA). Es determina que la deleció 2p16.3 és un factor de risc per discapacitat intel·lectual i trastorns psiquiàtrics amb una expressivitat variable. Es descriu per primer cop un fenotip dismòrfic comú entre els adults afectats i l’avaluació clínica dels familiars portadors identifica un patró cognitiu i psiquiàtric comú amb diferents nivells de severitat a tots els portadors de la deleció. L’estudi d’una població adulta aporta nombrosos avantatges, tant als pacients com als familiars, per adequar el pronòstic, seguiment, tractament i consell genètic. A més a més, el coneixement obtingut en pacients adults amb trastorns psiquiàtric pot ser de gran utilitat pels infants amb discapacitat intel·lectual, ja que el diagnòstic precoç n’afavoreix la prevenció mitjançant un seguiment i tractaments específics.
ABSTRACT The human genome contains nearly 3 billion base pairs that include around 20.000-25.000 genes. There are two sources of genetic variation among individuals: single nucleotide variants and structural variants. The improvement of molecular technologies has revealed a large amount of copy number variants (CNVs), which represents dose changes (gains and losses) in about 4,8%-9,5% of the genome. The CNVs contribute to the gene expression, protein structure and chromosome stability even if they are found in healthy people. Consequently, there has been a significant increase in the interest to understand the role of CNVs in diseases, such as intellectual disability and psychiatric disorders. Intellectual disability affects between 1¬3% of human population. With improvement in paediatric care, patients are most likely to survive into adulthood, in which is revealed a high incidence of psychiatric and behaviouraldisorders associated. In order to identify the genetic aetiology of dual diagnosis of intellectual disability and psychiatric and/or behavioural disorders in a cohort of 100 adults and to identify CNVs of disease susceptibility, a sequential genetic test workflow was performed. Firstly, G-banded karyotype, Fragile X syndrome screening and specific molecular technologies targeted to confirm a clinical suspicious of a syndrome were applied. In those negative cases, subtelomeric region screening by multiplex ligation dependent probe amplification and then a whole genome screening by high resolution (400k) comparative genomic hybridization array (CGHa) were performed. A high genetic diagnosis frequency (38%) has established in the adult cohort with dual diagnosis. The co-morbidity of a second psychiatric disorder increases the likelihood of genetic cause. The CNV characterization has identified candidate genes for intellectual disability and psychiatric disorder, mostly involved in the early stages of development, high expression in nervous system and synaptic localization. Some genes identified are involved in glutamatergic and ubiquitin pathways or in oxidative status. The assessment of the intellectual disability degree, psychiatric/behavioural disorders and dismorphology allowed us to establish a genotype-phenotype correlation. It has been identified CNVs associated with dual diagnosis in 19% of cases and CNVs in candidate regions: dup3q29 (FBXO45, PAK2) del7q31.1 (IMMP2L) del8p23.1 (MSRA) del8q21.13 (STMN2) dup9p24.2p24.1 (SLC1A1) del10q21.3 (CTNNA3) dup15q14q15.1 (SPRED1) del15q26.2 (MCTP2) dup17q24.1q24.2 (PRKCA). The 2p16.3 deletion is an intellectual disability and a psychiatric disorder risk factor with variable expressivity. For the first time, it has been described a common dysmorphic phenotype on those patients affected by a 2p16.3 deletion in addition to a common cognitive and psychiatric profile with different levels of severity among all carriers. Studies in an adult population provide numerous advantages in both patients and family members. Genetic diagnosis allows to adequate the prognosis, monitoring, treatment and genetic counselling. Moreover, the knowledge obtained in adult patients with psychiatric disorders can be useful for children affected by intellectual disability. The early diagnosis promotes prevention through monitoring and specific treatments.

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Masciangioli, Tina Marie. „Structural and dynamic studies of bacteriorhodopsin and its variants“. Diss., Georgia Institute of Technology, 1999. http://hdl.handle.net/1853/30551.

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NASCIMENTO, JÚNIOR Francisco do. „ScreenVar - a biclustering-based methodology for evaluating structural variants“. Universidade Federal de Pernambuco, 2017. https://repositorio.ufpe.br/handle/123456789/25375.

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The importance of structural variants as a source of phenotypic variation has grown in recent years. At the same time, the number of tools that detect structural variations using Next- Generation Sequencing (NGS) has increased considerably with the dramatic drop in the cost of sequencing in last ten years. Then evaluating properly the detected structural variants has been featured prominently due to the uncertainty of such alterations, bringing important implications for researchers and clinicians on scrutinizing thoroughly the human genome. These trends have raised interest about careful procedures for assessing the outcomes from variant calling tools. Here, we characterize the relevant technical details of the detection of structural variants, which can affect the accuracy of detection methods and also we discuss the most important caveats related to the tool evaluation process. This study emphasizes common assumptions, a variety of possible limitations, and valuable insights extracted from the state-of-the-art in CNV (Copy Number Variation) detection tools. Among such points, a frequently mentioned and extremely important is the lack of a gold standard of structural variants, and its impact on the evaluation of existing detection tools. Next, this document describes a biclustering-based methodology to screen a collection of structural variants and provide a set of reliable events, based on a defined equivalence criterion, that is supported by different studies. Finally, we carry out experiments with the proposed methodology using as input data the Database of Genomic Variants (DGV). We found relevant groups of equivalent variants across different studies. In summary, this thesis shows that there is an alternative approach to solving the open problem of the lack of gold standard for evaluating structural variants.
A importância das variantes estruturais como fonte de variação fenotípica tem se proliferado nos últimos anos. Ao mesmo tempo, o número de ferramentas que detectam variações estruturais usando Next-Generation Sequencing (NGS) aumentou consideravelmente com a dramática queda no custo de seqüenciamento nos últimos dez anos. Neste cenário, avaliar corretamente as variantes estruturais detectadas tem recebido destaque proeminente devido à incerteza de tais alterações, trazendo implicações importantes para os pesquisadores e clínicos no exame minucioso do genoma humano. Essas tendências têm impulsionado o interesse em procedimentos criteriosos para avaliar os variantes identificados. Inicialmente, caracterizamos os detalhes técnicos relevantes em torno da detecção de variantes estruturais, os quais podem afetar a precisão. Além disso, apresentamos advertências fundamentais relacionadas ao processo de avaliação de uma ferramenta. Desta forma, este estudo enfatiza questões como suposições comuns à maioria das ferramentas, juntamente com limitações e vantagens extraídas do estadoda- arte em ferramentas de detecção de variantes estruturais. Entre esses pontos, há uma muito questão bastante citada que é a falta de um gold standard de variantes estruturais, e como sua ausência impacta na avaliação das ferramentas de detecção existentes. Em seguida, este documento descreve uma metodologia baseada em biclustering para pesquisar uma coleção de variantes estruturais e fornecer um conjunto de eventos confiáveis, com base em um critério de equivalência definido e apoiado por diferentes estudos. Finalmente, realizamos experimentos com essa metodologia usando o Database of Genomic Variants (DGV) como dados de entrada e encontramos grupos relevantes de variantes equivalentes em diferentes estudos. Desta forma, esta tese mostra que existe uma abordagem alternativa para o problema em aberto da falta de gold standard para avaliar variantes estruturais.

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Lee, Seung-Joo. „Structural and functional consequences of disease-related protein variants“. Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1269545015.

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Bücher zum Thema "Variants structurels"

Feuk, Lars, Hrsg. Genomic Structural Variants. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-61779-507-7.

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Henschen, A., und B. Henssel, Hrsg. Structural variants and interactions. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951.

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Proukakis, Christos, Hrsg. Genomic Structural Variants in Nervous System Disorders. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-2357-2.

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Buunk, Bram. Variant lifestyles and relationships. Newbury Park, Calif: Sage Publications, 1989.

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Koopman, Jacob Laurens. Structure-function analysis of hereditary variant human fibrinogens. [The Netherlands: s.n., 1992.

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Natke, Hans G., Geoffrey R. Tomlinson und James T. P. Yao. Safety Evaluation Based on Identification Approaches Related to Time-Variant and Nonlinear Structures. Wiesbaden: Vieweg+Teubner Verlag, 1993. http://dx.doi.org/10.1007/978-3-322-89467-0.

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Gutiérrez, Gladys M. Sirvent. Colonia La Tabacalera: Varias lecturas sobre un mismo patrimonio. México, D.F: Universidad Autónoma Metropolitana-Xochimilco, División Ciencias y Artes para el Diseño, Depto. de Teoría y Análisis, 1994.

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Workshop on Fibrinogen. (1983 Stockholm, Sweden). Fibrinogen, structural variants and interactions: Proceedings workshop on Fibrinogen, Stockholm, Sweden, July 9-10, 1983. Herausgegeben von Henschen A. 1935-. Berlin: W. de Gruyter, 1985.

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Kiem, Karl. Die Gartenstadt Staaken (1914-1917): Typen, Gruppen, Varianten. Berlin: Gebr. Mann, 1997.

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G, Natke H., Tomlinson Geoffrey R, Yao James Tsu-ping 1932- und International Workshop on Safety Evaluation Based On Identification Approaches Related to Time-Variant and Nonlinear Structures (1992 : Lambrecht, Germany), Hrsg. Safety evaluation based on system identification approaches related to time-variant and nonlinear structures. Braunschweig: F. Vieweg, 1993.

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Buchteile zum Thema "Variants structurels"

Henschen, A. „Two thousand years of fibrinogen research and evidence for fibrin being the first protein“. In Structural variants and interactions, herausgegeben von A. Henschen und B. Henssel, 1–8. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-002.

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Fowlkes, D. M., N. T. Mullis, C. M. Comeau und G. R. Crabtree. „Fibrinogen evolution - The structure and evolution of fibrinogen: The coiled coil region“. In Structural variants and interactions, herausgegeben von A. Henschen und B. Henssel, 11–22. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-003.

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Courtois, G., G. Uzan, Z. Assouline, G. Marguerie und A. Kahn. „Absence of gross defect of fibrinogen genes in one patient with congenital afibrinogenemia“. In Structural variants and interactions, herausgegeben von A. Henschen und B. Henssel, 23–30. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-004.

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Blombäck, B. „Fibrinogen to fibrin - an overview“. In Structural variants and interactions, herausgegeben von A. Henschen und B. Henssel, 33–42. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-005.

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Matsueda, G. R., K. Y. Hui und E. Haber. „Fibrin - specific monoclonal antibodies are elicited by immunization with a synthetic fibrin-like peptide“. In Structural variants and interactions, herausgegeben von A. Henschen und B. Henssel, 43–50. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-006.

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Kaminski, M., und J. McDonagh. „Enhancement of fibrin polymerization by active site - inhibited thrombin“. In Structural variants and interactions, herausgegeben von A. Henschen und B. Henssel, 51–64. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-007.

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Harenberg, J., J. X. de Vries und S. Waibel. „Peptides released from human fibrinogen by thrombic enzymes“. In Structural variants and interactions, herausgegeben von A. Henschen und B. Henssel, 65–72. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-008.

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Southan, C., und A. Hensc. „The analysis of fibrinopeptide release from S--carboxymethylated fibrinogen chains using high-performance liquid chromatography“. In Structural variants and interactions, herausgegeben von A. Henschen und B. Henssel, 73–82. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-009.

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Mentlein, R., G. Struckhoff und E. Heymann. „Moaification of the fibrin a-chain by dipeptidyl peptidase IV“. In Structural variants and interactions, herausgegeben von A. Henschen und B. Henssel, 83–88. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-010.

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Shainoff, J. R. „Analysis of composition of soluble fibrinogen/fibrin complexes by differential ultracentrifugation“. In Structural variants and interactions, herausgegeben von A. Henschen und B. Henssel, 91–100. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-011.

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Konferenzberichte zum Thema "Variants structurels"

Tyrell, Stacey, Mark Robeson, Courtney Kube, Dennis McCarthy und Ronald Lavin. „Dual-Use Structures: Composite Wing with Structural Antenna Aperture“. In Vertical Flight Society 72nd Annual Forum & Technology Display, 1–8. The Vertical Flight Society, 2016. http://dx.doi.org/10.4050/f-0072-2016-11552.

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Many modern aircraft, including rotorcraft, require conformal antennas and fairings to reduce wind drag, ice accretion, lightning strikes, and impact damage. An innovative composite wing configuration with a structural Ultra High Frequency (UHF) antenna window "aperture" has been developed. The wing is based on variants of lightweight X-Cor® sandwich core technology for durability and damage tolerance, with tailored electromagnetic properties in the aperture region of the wing. This paper presents a brief introduction to helicopter wings, a summary of recent research at Boeing and Army leading to this design, and the development approach used for this project. Structural and electromagnetic analyses are provided, and measurement results of an early prototype are summarized. The emphasis of this paper is on the wing configuration details surrounding the antenna aperture. The approach can be replicated on almost any current or future aircraft or rotorcraft.

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Silva, LP, LFR Velasco, FA Hurtado, ASC Oliveira, GL Souza, MS Andrade, A. Belmok und CF Sousa. „GENOTIPAGEM DO SARS-COV-2 EM AMOSTRAS DO DISTRITO FEDERAL“. In Resumos do 54º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial, 25. Zeppelini Editorial e Comunicação, 2022. http://dx.doi.org/10.5327/1516-3180.140s1.5829.

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Objetivo: Declarada pela Organização Mundial da Saúde (OMS) em março de 2020, a pandemia da Covid-19 teve o surgimento das primeiras variantes descritas em setembro do mesmo ano. Novas variantes do Sars-CoV-2 foram descritas com características de maior transmissibilidade, evasão da resposta imune e/ou maior letalidade. Mutações relacionadas com a adsorção celular são compartilhadas entre as variantes, sugerindo que, sobre pressão seletiva, o vírus tende a desenvolver formas de escape da resposta imunológica e de maior afinidade ao receptor ACE2. Dessa forma, o monitoramento genômico de Sars-CoV-2 merece grande atenção. A descrição das variantes circulantes no Distrito Federal entre agosto de 2021 e maio de 2022 compõe o propósito deste trabalho. Método: A partir de amostras positivas para Sars-CoV-2, foram utilizados os kits de qPCR Allplex Variants I e Variants II Seegene® e o desenho in house de primers para sequenciamento de sanger em regiões do gene S do vírus, a fim de caracterizar o perfil de mutações que permitiram identificar as variantes de interesse e de preocupação. Conclusão: No início do período monitorado, foram identificadas infecções pelas variantes Alpha, Delta e Gamma; posteriormente, foi evidenciada a predominância da variante Delta, seguida do surgimento e predomínio da variante Omicron. Essa variante foi identificada pela primeira vez na penúltima semana de dezembro, poucos dias antes do pico de infecções por Sars-CoV-2, que ocorreu no início de janeiro. Esses dados permitiram caracterizar a dinâmica de circulação das variantes do Sars-CoV-2 no Distrito Federal. Referências: 1. Arya R, et al. Structural insights into SARS-CoV-2 proteins. J Mol Biol. 2021; 433(2): 166725. 2. Dawood FS, et al. Observations of the global epidemiology of COVID-19 from the prepandemic period using web-based surveillance: a cross-sectional analysis. Lancet Infect Dis. 2020; 20(11): 1255-62.

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Ni, Qianfu, Prasad K. D. V. Yarlaggada und Wen Feng Lu. „Product Structure Modelling for the Made-to-Order Environment“. In ASME 2005 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. ASMEDC, 2005. http://dx.doi.org/10.1115/detc2005-84617.

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Product structure is the key information widely used by various business activities performed at different departments and different stages. In the made-to-order environment, product structure representation becomes more complicated because each product can have many variants with slightly different constitutions to fulfill different customer requirements. In such a context, product structure management comes to two interrelated functions: family structure management and variant structure management. At the same time, these two functions need to be seamlessly integrated to ensure the consistency of a family structure and its variant structure. From the business process perspective, throughout the entire product lifecycle, different business activities look at product structure with different purposes. Some activities are carried out based on variants and deem individual variants as different products and some need to be performed based on an entire family. As such, it is imperative to develop a product structure model that is capable of flexibly representing product families and product variants to serve up different processes in a product lifecycle. In this paper, a product structure model based on a master-variant pattern is proposed. The model can explicitly represent common characteristics of a family and particular characteristics of individual variants. Moreover, the variant structure representation is built on the top of the family structure representation. As a result, it provides an effective means to synchronize two types of structures. It also makes product family and variant concepts transparent to various business processes so that effective support can be provided to processes integration in the made-to-order environment.

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Wong, Chun Nam, Jingqi Xiong, Hong-Zhong Huang und Tianyou Hu. „Damage Detection of Space Truss Using Second Order Polynomial Method With BFGS Quasi-Newton Optimization“. In ASME 2010 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. ASMEDC, 2010. http://dx.doi.org/10.1115/detc2010-28091.

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A second order damage detection method is developed by expanding the original eigenparameters using their sensitivity terms with the variations in the structural variants. This vibration-based polynomial method is generated from eigenvalue re-analysis in conjunction with the polynomial algorithm. By incorporating basic forms of the Lagrange factor functions, numerical eigenparameter functions are generalized to multi-variate polynomial interpolated forms. Second order sensitivity terms are computed by differentiating these multi-variate eigenparameter functions with respect to the structural variants. Convergence of different order algorithms are compared using finite element model of a four element cantilever beam structure under various damaged percentage cases. Moreover, finite element model of a four bay modular space truss is established. Damage detections from small to large percentages are carried out through numerical simulations on the space truss. Most of these cases converge efficiently toward the ultimate solutions within 1% termination level. Therefore the BFGS algorithm works well with the nonlinear multi-variate system equations. The algorithm operates robustly with limited number of d.o.f.s in the reduced order model and limited number of vibration modes in the full model.

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HENKEL, EDWIN, RENE HEWLETT und RAYMOND MAR. „Transient solution of time variant structural systems using invariant modal properties“. In 32nd Structures, Structural Dynamics, and Materials Conference. Reston, Virigina: American Institute of Aeronautics and Astronautics, 1991. http://dx.doi.org/10.2514/6.1991-1061.

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Dikes, Jason L., Heidi P. Feigenbaum, Constantin Ciocanel und Roger Guiel. „Experimental Investigation and Model Predictions of a NiMnGa Alloy’s Response to Three Dimensional Magneto-Mechanical Loading“. In ASME 2015 Conference on Smart Materials, Adaptive Structures and Intelligent Systems. American Society of Mechanical Engineers, 2015. http://dx.doi.org/10.1115/smasis2015-9076.

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Researchers have attempted to model the magneto-mechanical behavior of magnetic shape memory alloys (MSMAs) for over a decade, but all of the models developed to date have only been validated against experimental data generated under two-dimensional loading conditions. As efforts have been underway to develop models able to predict the most general (i.e. 3D) loading conditions for the material, there is a need for experimental data to support the calibration and validation of these models. This paper presents magneto-mechanical data from experiments where a MSMA specimen whose microstructure accommodates three martensite variants is subjected to three-dimensional magneto-mechanical loading. To the best of our knowledge, all prior experimental investigations on MSMA have been performed on samples accommodating two martensite variants and exposed to two-dimensional magneto-mechanical loads. The experimental results from the 3D loading of the three variant MSMA specimen are used to calibrate and validate a 3D model developed by this group [LaMaster et al. (2014)]. This model assumes that three martensite variants coexist in the material. The LaMaster et al. model captures the general trends seen in the experimental data, but does not predict the data with a high degree of accuracy. Possible reasons for the mismatch between experimental data and model predictions are discussed.

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Bartel, Thorsten, Karsten Buckmann, Björn Kiefer und Andreas Menzel. „An Advanced Energy Relaxation Scheme for the Modeling of Displacive Phase Transformations“. In ASME 2013 Conference on Smart Materials, Adaptive Structures and Intelligent Systems. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/smasis2013-3041.

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In this contribution, a micro-mechanically motivated constitutive model for phase transformation, martensite reorientation and twin formation in shape memory alloys is proposed. The formulation builds on an effective parametrization of the austenite-twinned martensite microstructure through first- and second-order laminates. To define the effective energy density of the phase mixture, the concept of energy relaxation is applied. The values of the dissipative internal state variables that describe the microstructure evolution are computed via constrained incremental energy minimization. This work also suggests a first step towards the continuous modeling of twin formation embedded into the concept of energy relaxation and can be viewed as a generalization of earlier models suggested in [1–3]. More specifically, in the current model the orientation of martensitic variants in space is not pre-assigned. Variants are rather left free to arrange in an energy-minimizing fashion and are only distinguished by their rotation in reference to a master variant. Finally, macro-homogeneous uniaxial strain and pure shear loading cases are analyzed to demonstrate the capabilities of the proposed modeling framework.

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Louri, Ahmed, Hongki Sung, Yoonkeon Moon und Bernard P. Zeigler. „An Efficient Signal Distinction Scheme for Large-scale Free-space Optical Networks Using Genetic Algorithms“. In Photonics in Switching. Washington, D.C.: Optica Publishing Group, 1995. http://dx.doi.org/10.1364/ps.1995.pthc5.

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Free-space optical interconnection networks can be classified into two types, space variant and space invariant, according to the degree of space variance [1]. The degree of space variance determines the network’s complexity and regularity. A totally space variant network allows a completely arbitrary interconnection between nodes, whereas a totally space invariant network has a definite, regular structure with all the nodes having the same connection patterns. In terms of physical implementations, the degree of space variance can be interpreted as the degree of sharing beam steering optics among the nodes of a given network. In other words, all nodes in a totally space-invariant network can share a single beam steering optics (considering multiple fanouts as one steering optics) to realize the given network topology, whereas, in a totally space variant network, each node requires a distinct beam steering optics. This is one of the reasons why space variant networks require complex optical implementations that often result in low interconnection density and high cost.

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Striz, A., C. Plunkett und Jaroslaw Sobieszczanski-Sobieski. „Parallel processing on a variant of displacement based Multilevel Structural Optimization“. In 40th Structures, Structural Dynamics, and Materials Conference and Exhibit. Reston, Virigina: American Institute of Aeronautics and Astronautics, 1999. http://dx.doi.org/10.2514/6.1999-1301.

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Kohl, Manfred, Berthold Krevet, Srinivasa R. Yeduru, Yossi Ezer und Alexei Sozinov. „A Ferromagnetic Shape Memory Foil Actuator“. In ASME 2010 Conference on Smart Materials, Adaptive Structures and Intelligent Systems. ASMEDC, 2010. http://dx.doi.org/10.1115/smasis2010-3652.

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This paper presents experimental and simulation results on the performance of a new kind of linear actuator making use of the magnetic shape memory (MSM) effect. The actuation material is a Ni-Mn-Ga foil of 200 μm thickness that has been fabricated from a bulk Ni-Mn-Ga (100) single crystal consisting of 10 M martensite variants at room temperature. Stress-strain experiments on tensile test structures demonstrate that the stress needed for reorientation of martensite variants is about 1.2 MPa. The low twinning stress allows magnetic-field induced variant switching, the basic mechanism of MSM actuation. A Ni-Mn-Ga foil actuator is fabricated by lithography and hybrid integration. The actuator shows a maximum magneto strain of 4.9%, which is limited by the constraints of fixation and loading. Upon tensile loading at 1.5 MPa, linear actuation cycles are generated with an actuation stroke of 2.2%. The linear actuator is used as a benchmark system for modeling the coupled magneto-mechanical behavior of MSM actuation. We present finite element simulations based on a thermodynamic Gibbs free energy model that describes the observed tensile stress-dependence of magneto strain in many respects.

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Berichte der Organisationen zum Thema "Variants structurels"

Smith, H. A. Adaptive Control of Smart Structures with Time Variant Stiffness and Damping. Fort Belvoir, VA: Defense Technical Information Center, März 1997. http://dx.doi.org/10.21236/ada326843.

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Welch, David, und Gregory Deierlein. Technical Background Report for Structural Analysis and Performance Assessment (PEER-CEA Project). Pacific Earthquake Engineering Research Center, University of California, Berkeley, CA, November 2020. http://dx.doi.org/10.55461/yyqh3072.

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This report outlines the development of earthquake damage functions and comparative loss metrics for single-family wood-frame buildings with and without seismic retrofit of vulnerable cripple wall and stem wall conditions. The underlying goal of the study is to quantify the benefits of the seismic retrofit in terms of reduced earthquake damage and repair or reconstruction costs. The earthquake damage and economic losses are evaluated based on the FEMA P-58 methodology, which incorporates detailed building information and analyses to characterize the seismic hazard, structural response, earthquake damage, and repair/reconstruction costs. The analyses are informed by and include information from other working groups of the Project to: (1) summarize past research on performance of wood-frame houses; (2) identify construction features to characterize alternative variants of wood-frame houses; (3) characterize earthquake hazard and ground motions in California; (4) conduct laboratory tests of cripple wall panels, wood-frame wall subassemblies and sill anchorages; and (5) validate the component loss models with data from insurance claims adjustors. Damage functions are developed for a set of wood-frame building variants that are distinguished by the number of stories (one- versus two-story), era (age) of construction, interior wall and ceiling materials, exterior cladding material, and height of the cripple walls. The variant houses are evaluated using seismic hazard information and ground motions for several California locations, which were chosen to represent the range seismicity conditions and retrofit design classifications outlined in the FEMA P-1100 guidelines for seismic retrofit. The resulting loss models for the Index Building variants are expressed in terms of three outputs: Mean Loss Curves (damage functions), relating expected loss (repair cost) to ground-motion shaking intensity, Expected Annual Loss, describing the expected (mean) loss at a specific building location due to the risk of earthquake damage, calculated on an annualized basis, and Expected RC250 Loss, which is the cost of repairing damage due to earthquake ground shaking with a return period of 250 years (20% chance of exceedance in 50 years). The loss curves demonstrate the effect of seismic retrofit by comparing losses in the existing (unretrofitted) and retrofitted condition across a range of seismic intensities. The general findings and observations demonstrate: (1) cripple walls in houses with exterior wood siding are more vulnerable than ones with stucco siding to collapse and damage; (2) older pre-1945 houses with plaster on wood lath interior walls are more susceptible to damage and losses than more recent houses with gypsum wallboard interiors; (3) two-story houses are more vulnerable than one-story houses; (4) taller (e.g., 6-ft-tall) cripple walls are generally less vulnerable to damage and collapse than shorter (e.g., 2-ft-tall) cripple walls; (5) houses with deficient stem wall connections are generally observed to be less vulnerable to earthquake damage than equivalent unretrofitted cripple walls with the same superstructure; and (6) the overall risk of losses and the benefits of cripple wall retrofit are larger for sites with higher seismicity. As summarized in the report, seismic retrofit of unbraced cripple walls can significantly reduce the risk of earthquake damage and repair costs, with reductions in Expected RC250 Loss risk of up to 50% of the house replacement value for an older house with wood-frame siding at locations of high seismicity. In addition to the reduction in repair cost risk, the seismic retrofit has an important additional benefit to reduce the risk of major damage that can displace residents from their house for many months.

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Chesher, Andrew. Identification of Structural Functions when Endogenous Variabls are Discrete". The IFS, Januar 2009. http://dx.doi.org/10.1920/re.ifs.2024.0740.

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Read, Matthew. Sign Restrictions and Supply-demand Decompositions of Inflation. Reserve Bank of Australia, August 2024. http://dx.doi.org/10.47688/rdp2024-05.

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Policymakers are often interested in the degree to which changes in prices are driven by shocks to supply or demand. One way to estimate the contributions of these shocks is with a structural vector autoregression identified using sign restrictions on the slopes of demand and supply curves. The appeal of this approach is that it relies on uncontroversial assumptions. However, sign restrictions only identify decompositions up to a set. I characterise the conditions under which these sets are informative, examining both historical decompositions (contributions to outcomes) and forecast error variance decompositions (contributions to variances). I use this framework to estimate the contributions of supply and demand shocks to inflation in the United States. While the sign restrictions yield sharp conclusions about the drivers of inflation in some expenditure categories, they tend to yield uninformative decompositions of aggregate inflation. A 'bottom-up' decomposition of aggregate inflation is less informative than a decomposition that uses the aggregate data directly.

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Petrova, Katerina. On the Validity of Classical and Bayesian DSGE-Based Inference. Federal Reserve Bank of New York, Januar 2024. http://dx.doi.org/10.59576/sr.1084.

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This paper studies large sample classical and Bayesian inference in a prototypical linear DSGE model and demonstrates that inference on the structural parameters based on a Gaussian likelihood is unaffected by departures from Gaussianity of the structural shocks. This surprising result is due to a cancellation in the asymptotic variance resulting into a generalized information equality for the block corresponding to the structural parameters. The underlying reason for the cancellation is the certainty equivalence property of the linear rational expectation model. The main implication of this result is that classical and Bayesian Gaussian inference achieve a semi-parametric efficiency bound and there is no need for a “sandwich-form” correction of the asymptotic variance of the structural parameters. Consequently, MLE-based confidence intervals and Bayesian credible sets of the deep parameters based on a Gaussian likelihood have correct asymptotic coverage even when the structural shocks are non-Gaussian. On the other hand, inference on the reduced-form parameters characterizing the volatility of the shocks is invalid whenever the structural shocks have a non-Gaussian density and the paper proposes a simple Metropolis-within-Gibbs algorithm that achieves correct large sample inference for the volatility parameters.

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Srivastava, Shiv. Structure and Function of the Splice Variants of TMPRSS2-ERG, a Prevalent Genomic Alteration in Prostate Cancer. Fort Belvoir, VA: Defense Technical Information Center, September 2009. http://dx.doi.org/10.21236/ada517260.

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Bush, Brian, Thomas Jenkin, David Lipowicz, Douglas J. Arent und Roger Cooke. Variance Analysis of Wind and Natural Gas Generation under Different Market Structures: Some Observations. Office of Scientific and Technical Information (OSTI), Januar 2012. http://dx.doi.org/10.2172/1033025.

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Zyphur, Michael. Dynamic Structural Equation Modeling in Mplus. Instats Inc., 2023. http://dx.doi.org/10.61700/aypvl8azm5nlr469.

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This seminar will show you how to model longitudinal panel data as a multilevel model with contemporaneous and lagged effects. This type of dynamic SEM (DSEM) allows separating the stable and unstable components of observed variables, offering advantages such as including lagged effects to assess predictive forms of causality, as well as random slopes and variances to reflect individual differences in effects and volatility. The seminar covers this with hands-on examples that you can apply in your research. An official Instats certificate of completion is provided and the seminar offers 2 ECTS Equivalent points for European PhD students.

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