Academic literature on the topic 'CASQ1'

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Dissertations / Theses on the topic "CASQ1"

1

DEL, RE VALERIA. "Characterization of Calsequestrin-1 mutations in patients affected by myopathies." Doctoral thesis, Università di Siena, 2017. http://hdl.handle.net/11365/1005602.

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Calsequestrin1 (CASQ1) is the main Ca2+ buffer protein localized in the lumen of the skeletal muscle sarcoplasmic reticulum. Two isoforms of CASQ, encoded by two different genes, have been identified: the skeletal isoform (CASQ1) expressed in fast-twich skeletal fibres and the cardiac isoform (CASQ2) expressed in cardiac muscle and in slow-twich skeletal fibres. Crystallographic studies have shown that the protein is made of three thioredoxin-like domains linked by short amino acidic sequences. The main characteristic of this molecule is its ability to polymerize in presence of Ca2+, binding m
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2

Semplicini, Claudio. "Investigating myopathic causes of rhabdomyolysis." Doctoral thesis, Università degli studi di Padova, 2017. http://hdl.handle.net/11577/3425727.

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Rhabdomyolysis is an acute, and frequently severe, pathological event, characterized by rapid necrosis and destruction of striated muscle tissue. It is clinically characterized by muscle pain, weakness and emission of dark urine. The mechanisms that lead to rhabdomyolysis are various and different, and share common alterations such as dysfunction of the pumps Na + / K + and Ca2 + ATPase, and rupture of the sarcolemma, which in turn determine calcium homeostasis alterations, mitochondrial dysfunction, proteases activation, reduced availability of ATP and, overall, cell apoptosis and rhabdomyoly
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3

Wong, Shi Pey. "Analysis of the adaptation mechanism in the type II-A CRISPR-Cas system." Doctoral thesis, Humboldt-Universität zu Berlin, 2019. http://dx.doi.org/10.18452/19806.

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Das RNA-guided adaptive Immunsystem CRISPR (clustered regularly interspaced short palindromic repeats)-Cas (CRISPR-associated) immunisiert prokaryotische Zellen gegenüber mobilen genetischen Elementen (MGEs). Bei der Adaption wird eine kurze Nukleinsäurensequenz (prespacer) von den MGEs gewonnen, verarbeitet und schließlich als spacer in das CRISPR-Array integriert. Cas1 und Cas2, die Hauptbestandteile der Adaption, bilden einen Integrase-Komplex, welcher neue spacer in das CRISPR-Array integriert. Der molekulare Mechanismus für die Adaptiondes Typ II-A Systems, welches cas9, cas1, cas2, csn2
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Kalyanasundaram, Anuradha. "The Role of CASQ2D307H Mutant protein in Catecholamine Induced Polymorphic Ventricular Tachycardia (CPVT)." The Ohio State University, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=osu1259096606.

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5

Ludlow, Tracy. "Measuring Explanatory Style in Children." Thesis, Griffith University, 2008. http://hdl.handle.net/10072/367383.

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Causal explanations that individuals use to explain events in their lives are referred to as explanatory style. Three dimensions: internal-external, stable-unstable, and global-specific have most frequently been measured. Internal, stable, global explanations for negative events represent a pessimistic style, whereas these same explanations for positive events are considered optimistic. Explanations for negative events that are stable and global are considered to reflect hopelessness. The psychometric properties of the most commonly used measure of explanatory style for children, the Childr
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6

Lücking, Kerstin [Verfasser], and Uwe [Akademischer Betreuer] Kirchhefer. "Mutationen im kardialen Calsequestrin-Gen (CASQ2 ) als Ursache der katecholaminergen polymorphen ventrikulären Tachykardie (CPVT) / Kerstin Lücking. Betreuer: Uwe Kirchhefer." Münster : Universitäts- und Landesbibliothek der Westfälischen Wilhelms-Universität, 2012. http://d-nb.info/1027018726/34.

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7

Richards, Andrew John. "Optimism and English school children : reliability, validity and use of the Children's Attributional Style Questionnaire (CASQ) and the Youth Life Orientation Test (YLOT)." Thesis, University of Exeter, 2012. http://hdl.handle.net/10036/3624.

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This study explores the use of two tests of optimism: the Youth Life Orientation Test (YLOT) and the Children’s Attributional Style Questionnaire (CASQ) in six English primary schools with children aged between 9 years and 12 years. The study grew out of some problems I was confronted with as part of my professional practice regarding the outcomes for children in a school that was failing to meet Government Targets in attainment. In the study I worked with the staff and 9 – 11 year old children in six primary schools in rural, town, suburban and inner-city contexts. The total number of childre
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8

Michon, Jérôme. "Etude de l’oxydation biologique de l’arsenic As(III) par le consortium bactérien CAsO1 : mise au point de méthodes de détection et application à la détoxification d’effluents." Limoges, 2006. https://aurore.unilim.fr/theses/nxfile/default/6a8c8ca9-38b7-4688-89f5-1b36ed58553c/blobholder:0/2006LIMO0064.pdf.

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Ces travaux ont porté sur la mise en place et le développement d’un pilote d’oxydation bactérienne de l’As(III) en As(V), pour la potabilisation et le traitement d’effluents contaminés en arsenic. Le procédé d’oxydation biologique de l’arsenic fait appel à consortium bactérien autotrophe apparenté au genre Thiomonas, le consortiumCAsO1. Deux techniques de dosages ont été mises au point : le dosage d’As(total) par Spectrométrie d’Absorption Atomique Four Graphite (GF-AAS), et celui d’As(III), par Spectrométrie d’Absorption Atomique avec Génération d’Hydrures (HG-AAS), pour des domaines de conce
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9

Khedher, Ahmed. "Utilisation de technologies d'édition du génome afin de générer des cardiomyocytes matures à partir de cellules souches pluripotentes humaines induites CtIP Fusion to Cas9 Enhances Transgene Integration by Homology-Dependent Repair." Thesis, université Paris-Saclay, 2021. http://www.theses.fr/2021UPASL002.

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Les cardiomyocytes dérivés des cellules souches pluripotentes humaines induites (hiPSC-CMs) représentent des modèles in vitro prometteurs pour plusieurs applications scientifiques et thérapeutiques allant de la modélisation de pathologies à la découverte de médicaments et de la toxicologie prédictive à la médecine régénérative. Malgré les nombreux progrès dans ce domaine, les protocoles de différenciation actuels ne permettent pas d’atteindre le stade de maturité que l’on retrouve chez le myocarde adulte de l’Homme. En effet, certaines caractéristiques majeures des hiPSC-CMs demeurent similair
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10

Salama, Younes Mareï. "Validation et adaptation d'un outil de mesure (CASQ) évaluant les modes explicatifs chez les enfants sportifs et application à la prédiction des résultats sportifs et scolaires." Rennes 2, 2005. http://www.theses.fr/2005REN20050.

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Les objectifs essentiels de cette thèse portent (i) sur l'examen du cadre théorique sur lequel se fonde la théorie du " Mode explicatif " (e. G. , Abramson, Seligman, Teasdale, 1978), (ii) sur la validation d'un outil permettant une évaluation des modes explicatifs chez les enfants pratiquant des activités sportives diverses, et (iii) sur l'étude des effets des modes explicatifs sur des variables comportementales. La première partie présente les antécédents et les conséquences du mode explicatif chez des enfants âgés de 8 à 14 ans. La deuxième partie comporte une dizaine d'études ayant pour bu
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