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Dissertations / Theses on the topic 'Cystinuria'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Harnevik, Lotta. "Molecular genetic studies on cystinuria." Doctoral thesis, Linköping : Univ, 2007. http://www.bibl.liu.se/liupubl/disp/disp2007/med1034s.pdf.

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2

Fjellstedt, Erik. "Clinical and genetic studies on patients with cystinuria /." Linköping : Univ, 2003. http://www.bibl.liu.se/liupubl/disp/disp2003/med817s.pdf.

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3

Rhodes, Hannah Lucinda. "Genetic analysis and in vitro models of cystinuria." Thesis, University of Bristol, 2015. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.738194.

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4

Wong, Kathie. "The diagnosis, genetics and management of patients with cystinuria." Thesis, King's College London (University of London), 2018. https://kclpure.kcl.ac.uk/portal/en/theses/the-diagnosis-genetics-and-management-of-patients-with-cystinuria(b215085c-f9c7-44d9-8858-856a8fdf9a05).html.

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Cystinuria is a genetic disease leading a defective dibasic amino acid transporter in the renal proximal tubules resulting in an accumulation of urinary cystine. Urinary cystine precipitates into crystals which is believed to be a necessary step to stone formation. There is a wide variation in disease presentation that is not well understood and cannot be explained by either compliance with medical and dietary interventions, or differences in patient management. Predicting disease severity and managing patients expectantly is confounded by a paucity of validated methods to monitor disease acti

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5

Saadi, Irfan. "Characterization of the SLC3A1 (D2H) gene and mutation analysis of cystinuria patients in Québec." Thesis, McGill University, 1997. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=20283.

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Cystinuria is an autosomal recessive disorder of the kidneys and intestine with defective luminal transport of cystine and other dibasic amino acids (ornithine, arginine, and lysine). Three phenotypes have been described, based on urinary excretion of these amino acids in obligate heterozygotes: Type I (silent carriers); Type II (moderate elevation); and Type III (mild elevation). The SLC3AI (D2H) protein has been shown to enhance cystine reabsorption and mutations in D2H have been reported in cystinuria. The aims of this study were to characterize D2H gene structure and to identify mutations

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6

Rius, Radrigales Mònica. "Oxidative folding and early traffic of the human cystinuria transporter." Doctoral thesis, Universitat de Barcelona, 2014. http://hdl.handle.net/10803/284547.

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The aim of this work is to gain insight in the understanding of the biogenesis of membrane proteins, specially their folding, assembly and ER-exit. Our model is the human cystinuria transporter rBAT- b0,+AT. Disulfides and N-glycans are crucial for the correct folding, assembly and traffic of proteins. So we identified the disulfides and the N-glycans of the transporter and analysed their role in biogenesis of the transporter. In order to analyse the disulfide connectivity of rBAT, cysteine residues were mutated to serine, and we used mass-tagging of sulfhydryl (-SH) groups with mPEG5000-m

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7

Livrozet, Marine. "Lithiase rénale : de la génétique à la bactérie." Electronic Thesis or Diss., Paris 6, 2017. http://www.theses.fr/2017PA066633.

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La lithiase rénale touche environ 10% de la population dans les pays industrialisés. 75% des calculs sont composés majoritairement d'oxalate de calcium; 10% sont composés de phosphate de calcium, 9% d'acide urique, 5% de struvite et moins de 1% de cystine. La composition des calculs dépend des espèces sursaturées dans les urines. Dans la première partie de ma thèse, je décris un modèle murin de cystinurie de type A lié à une mutation spontanée apparue dans la souche de souris 129S2/SvPasCrl. La cystinurie est une maladie autosomique récessive responsable de 7% des lithiases de l'enfant. Les ca

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8

Saadi, Irfan. "Characterization of the SLC3A1 (D2H) gene and mutation analysis of cystinuria patients in Quebec." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape11/PQDD_0002/MQ44265.pdf.

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9

Childs-Sanford, Sara E. "The captive maned wolf (Chrysocyon brachyurus) nutritional considerations with emphasis on management of cystinuria /." College Park, Md. : University of Maryland, 2005. http://hdl.handle.net/1903/2520.

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Thesis (M.S.) -- University of Maryland, College Park, 2005.<br>Thesis research directed by: Dept. of Animal and Avian Sciences. Title from t.p. of PDF. Includes bibliographical references. Published by UMI Dissertation Services, Ann Arbor, Mich. Also available in paper.

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10

Livrozet, Marine. "Lithiase rénale : de la génétique à la bactérie." Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066633.

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La lithiase rénale touche environ 10% de la population dans les pays industrialisés. 75% des calculs sont composés majoritairement d'oxalate de calcium; 10% sont composés de phosphate de calcium, 9% d'acide urique, 5% de struvite et moins de 1% de cystine. La composition des calculs dépend des espèces sursaturées dans les urines. Dans la première partie de ma thèse, je décris un modèle murin de cystinurie de type A lié à une mutation spontanée apparue dans la souche de souris 129S2/SvPasCrl. La cystinurie est une maladie autosomique récessive responsable de 7% des lithiases de l'enfant. Les ca

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11

Rice, Sarah Jayne. "A translational approach to investigate the role of membrane transport proteins in the renal stone disease, cystinuria." Thesis, University of Newcastle upon Tyne, 2016. http://hdl.handle.net/10443/3201.

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In the kidney, unbound amino acids are freely filtered into the lumen of the nephron. For reabsorption to occur, they must be transported across the phospholipid bilayers of the tubular epithelium by selective transport systems. Mutations in these transport systems can lead to disease though a conferred lack of amino acid re-absorption. One such disease is cystinuria, caused by mutations in SLC3A1 and SLC7A9, which encode the two protein subunits of System b0,+, rBAT and b0,+AT, respectively. In healthy individuals System b0,+ mediates Na+- independent reabsorption of dibasic amino acids, and

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12

Bourderioux, Matthieu. "Approches protéomiques pour l’analyse des exosomes de liquides biologiques pour la recherche de biomarqueurs." Thesis, Sorbonne Paris Cité, 2015. http://www.theses.fr/2015USPCB102/document.

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Un biomarqueur est une molécule (ou un ensemble de molécules) présente dans l’organisme qui témoigne de l’apparition d’un processus pathologique. Il permet ainsi de dépister une maladie, d’en prédire sa gravité ou encore d’évaluer l’efficacité d’un traitement. Les liquides biologiques représentent des milieux de choix pour la recherche de biomarqueurs en pathologie humaine car leur collection est habituelle dans la prise en charge des patients et moins invasive comparée aux biopsies d’organes ou de tissus. Dans cette thèse, nous nous sommes intéressés plus particulièrement aux exosomes présent

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13

Lone, Anna Mari. "The Biochemistry and Physiology of Peptidases." Thesis, Harvard University, 2012. http://dissertations.umi.com/gsas.harvard:10693.

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Peptidases regulate important physiological processes by controlling levels of bioactive peptides and occasionally through noncatalytic processes. This thesis presents a study of prolyl endopeptidase-like (PREPL), which is a peptidase involved in several human deletion syndromes, including hypotonia-cystinuria syndrome (HCS). Phenotypes tentatively attributed to PREPL deletion include hypotonia and decreased growth hormone (GH) levels. However, little is known about the mechanisms by which PREPL deletion causes these phenotypes. To better understand PREPL catalytic activity, we used an activit

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14

Laaliaoui-Laffitte, Sylvie. "La cystinurie : à propos de 19 cas cliniques." Bordeaux 2, 1990. http://www.theses.fr/1990BOR25279.

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15

Schmidt, Christa. "Genetische Defekte im renalen Cystintransport und ihre Bedeutung für die Cystinurie." Aachen, Alexanderstr. 105 Ch. Schmidt, 2004. http://deposit.d-nb.de/cgi-bin/dokserv?idn=970935765.

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16

Schmidt, Christa [Verfasser]. "Genetische Defekte im renalen Cystintransport und ihre Bedeutung für die Cystinurie / vorgelegt von Christa Schmidt." Aachen, Alexanderstr. 105 : Ch. Schmidt, 2004. http://d-nb.info/970935765/34.

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17

Sentenac, Virginie de. "La lithiase cystinique : diagnostic, traitements, étude multicentrique sur la lithiase cystinique." Paris 5, 1991. http://www.theses.fr/1991PA05P105.

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18

Constante, Ana Sofia dos Santos. "Avaliação epidemiológica e de resultados numa população com cistinúria." Master's thesis, 2020. http://hdl.handle.net/10316/97597.

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Trabalho Final do Mestrado Integrado em Medicina apresentado à Faculdade de Medicina<br>Introdução: A cistinúria é uma doença hereditária autossómica recessiva rara. Os principais objetivos deste estudo prenderam-se com a caracterização epidemiológica, bem como a avaliação da terapêutica tanto médica como cirúrgica a que os doentes com cistinúria foram sujeitos. Materiais e métodos: Analisámos retrospetivamente os processos clínicos de 15 doentes com cistinúria, seguidos no Centro Hospitalar e Universitário de Coimbra, que foram submetidos a procedimentos de fragmentação e extração de cálculos

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19

Kaltenbach, Simone Christine [Verfasser]. "Untersuchungen zur Pathophysiologie der Cystinurie Typ I : Charakterisierung der hrBAT-Mutationen R365W und F648S / vorgelegt von Simone Christine Kaltenbach." 2002. http://d-nb.info/96588449X/34.

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20

Stehberger, Paul Andreas Valentin [Verfasser]. "Untersuchungen zur Pathophysiologie der Cystinurie Typ A : elektrophysiologische Charakterisierung des hrBAT-Wildtyps und der Mutation T216M in Xenopus-Oozyten / vorgelegt von Paul Andreas Valentin Stehberger." 2006. http://d-nb.info/978586034/34.

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