Literatura académica sobre el tema "Cystinuria"
Crea una cita precisa en los estilos APA, MLA, Chicago, Harvard y otros
Consulte las listas temáticas de artículos, libros, tesis, actas de conferencias y otras fuentes académicas sobre el tema "Cystinuria".
Junto a cada fuente en la lista de referencias hay un botón "Agregar a la bibliografía". Pulsa este botón, y generaremos automáticamente la referencia bibliográfica para la obra elegida en el estilo de cita que necesites: APA, MLA, Harvard, Vancouver, Chicago, etc.
También puede descargar el texto completo de la publicación académica en formato pdf y leer en línea su resumen siempre que esté disponible en los metadatos.
Artículos de revistas sobre el tema "Cystinuria":
Kovaříková, Simona, Petr Maršálek y Kateřina Vrbová. "Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?" Animals 11, n.º 8 (19 de agosto de 2021): 2437. http://dx.doi.org/10.3390/ani11082437.
Font-Llitjós, Mariona, Lídia Feliubadaló, Meritxell Espino, Ramon Clèries, Sandra Mañas, Isabelle M. Frey, Sara Puertas et al. "Slc7a9knockout mouse is a good cystinuria model for antilithiasic pharmacological studies". American Journal of Physiology-Renal Physiology 293, n.º 3 (septiembre de 2007): F732—F740. http://dx.doi.org/10.1152/ajprenal.00121.2007.
Döven, Serra Sürmeli, Ali Delibaş, Hakan Taşkınlar y Ali Naycı. "The impact of surgical intervention on renal function in cystinuria". Brazilian Journal of Nephrology 40, n.º 3 (21 de junio de 2018): 256–60. http://dx.doi.org/10.1590/2175-8239-jbn-2018-0034.
Feld, Ronald D. y Zakariya K. Shihabi. "Cystinuria". CRC Critical Reviews in Clinical Laboratory Sciences 26, n.º 3 (enero de 1988): 243–61. http://dx.doi.org/10.3109/10408368809105891.
Strologo, Luca Dello y Gianfranco Rizzoni. "Cystinuria". Acta Paediatrica 95 (1 de julio de 2006): 31–33. http://dx.doi.org/10.1080/08035320600649473.
Strologo, Luca Dello y Gianfranco Rizzoni. "Cystinuria". Acta Paediatrica 95 (2 de enero de 2007): 31–33. http://dx.doi.org/10.1111/j.1651-2227.2006.tb02412.x.
Milliner, D. S. "Cystinuria". Endocrinology and Metabolism Clinics of North America 19, n.º 4 (diciembre de 1990): 889–907. http://dx.doi.org/10.1016/s0889-8529(18)30299-8.
Mattoo, Aditya y David S. Goldfarb. "Cystinuria". Seminars in Nephrology 28, n.º 2 (marzo de 2008): 181–91. http://dx.doi.org/10.1016/j.semnephrol.2008.01.011.
Scrivner, C. R. "Cystinuria". Journal of Urology 137, n.º 5 (mayo de 1987): 1069–70. http://dx.doi.org/10.1016/s0022-5347(17)44383-7.
Scriver, Charles R. "Cystinuria". New England Journal of Medicine 315, n.º 18 (30 de octubre de 1986): 1155–57. http://dx.doi.org/10.1056/nejm198610303151808.
Tesis sobre el tema "Cystinuria":
Harnevik, Lotta. "Molecular genetic studies on cystinuria". Doctoral thesis, Linköping : Univ, 2007. http://www.bibl.liu.se/liupubl/disp/disp2007/med1034s.pdf.
Fjellstedt, Erik. "Clinical and genetic studies on patients with cystinuria /". Linköping : Univ, 2003. http://www.bibl.liu.se/liupubl/disp/disp2003/med817s.pdf.
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.
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.
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.
The D2H cDNA was used to isolate five genomic clones and to characterize the entire gene. The gene spans over 40 kb and contains 10 exons. SSCP and Southern blotting techniques were successful in identifying six novel mutations (2 large deletions, 3 missense mutations, and one 2bp deletion) in twenty cystinuric patients (8 Type I/I, 9 Type I/III, and 3 Type II/N).
Our group has identified mutations in the SLC3A1 gene on 15 of 25 cystinuria chromosomes. All but one of these mutations have been found on patients with Type I/I phenotype (the remaining mutation was identified on a Type I/III patient). These studies have revealed eight mutations unique to Quebec and indicate population-specificity and genetic heterogeneity. Furthermore, SLC3A1 mutations only account for Type I cystinuria. However, since only 1 SLC3A1 mutation was identified in 9 Type I/III patients, the data suggest that another gene(s) is (are) responsible for the Type I/N phenotype in some patients.
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.
El objetivo de este trabajo es el de estudiar la biogénesis de las proteínas de membrana. El modelo utilizado para ello es el transportador humano rBAT- b0,+AT, cuya ausencia causa cistinuria. Para estudiar el ensamblaje, el plegamiento y el tráfico del heterodímero se han analizado los puentes disulfuro, los N-glicanos y la cola C-terminal de rBAT. Los resultados muestran que el ectodominio de rBAT se encuentra completamente oxidado formando 3 puentes disulfuro: C242-C273, C571-C666 y C673-C685. Probablemente el primero en formarse es C242-C273 pues es el único capaz de formarse establemente en ausencia de los demás. Cuando una de estas cisteínas se encuentra desapareada, ésta interacciona con los demás residuos de cisteína evitando la correcta formación de los demás puentes disulfuro. La subunidad ligera b0,+AT es necesaria para el plegamiento oxidativo de rBAT. Parece que su presencia estabiliza la oxidación de C571 para formar el puente disulfuro C571-C666. Este puente disulfuro y el C242-C273 son esenciales para la biogénesis del transportador, no así el puente disulfuro C673-C685. rBAT contiene 5 N-glicanos. Ninguno de ellos es esencial para el transportador, aunque son necesarios para una degradación eficiente, para la salida del RE y para que el transportador sea plenamente funcional. De hecho, el N-glicano N575 es necesario y suficiente para conferir una eficiencia máxima de maduración al transportador. El mutante que elimina la cola C-terminal de rBAT, Δ673-685, es retenido en el RE y posteriormente degradado, lo que muestra la importancia de este element en la biogénesis del transportador. El estudio de los mutantes simples y dobles de esta región muestra que estos residuos son importantes para la estabilización y maduración del heterodímero, lo que explica, al menos en parte, el fenotipo observado en Δ673-685. El estudio de los mutantes dobles de la cola C-terminal de rBAT y del N-glicano N575 o del puente disulfuro C673-C685 sugiere que estos elementos podrían interaccionar física y/o funcionalmente con residuos de la cola C-terminal de rBAT para promover la maduración eficiente del transportador, y que podrían constituir parte de una señal conformacional de salida del RE en el dominio luminal de rBAT.
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.
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.
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.
Livrozet, Marine. "Lithiase rénale : de la génétique à la bactérie". Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066633.
Urolithiasis is a disease that corresponds to the presence of kidney stones in the urinary tract. It affects about 10% of the population in industrialized countries. About 75% of the stones are made of calcium oxalate. Less than 10% are made of calcium phosphate, 9% are made of uric acid, 5% are made of struvite and less than 1% are made of cystine. The composition depends on the species that are supersaturated in urine. In the first part of my thesis I will present a mouse model of cystinuria type A. Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria). In 129S2/SvPasCrl strain, we evidenced cystine crystals, as well as cystine stones. We observed an heterogenous inflammatory infiltrate and cystine tubular casts in the parenchyma. We identified a single mutation and a defect of the heavy subunit rBAT. This mouse model could allow for further pathophysiological studies and may be useful to analyse the crystal/tissue interaction in cystinuria. In the second part of my thesis I will test the pathogenesis of E. coli in calcium phosphate stones. In this part, I observed calcium phosphate stones by scanning electron microscopy. I also analysed calcifying properties of wild type bacteria and mutant bacteria in urine or in specific calcifying medium. In synthetic medium phosphatases play a role in calcification but carbohydrate source seems to play a major part in the phosphatase activity. In urine some E. coli induce phosphate calcium precipitation as quickly as Klebsiella does
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.
Libros sobre el tema "Cystinuria":
Hoppe, Astrid. Cystinuria in the dog: With special reference to treatment with 2-mercaptopropionylglycine (Thiola R). Uppsala: Sveriges Lantbruksuniversitet, 1992.
Parker, James N. y Philip M. Parker. Cystinuria: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.
Pak, Charles Y. C. Pharmacological treatment of endocrinopathies: Bone disease, kidney stones, and related disorders. Basel: Karger, 1991.
Servais, Aude y Bertrand Knebelmann. Cystinuria. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0024.
Sinnott, Bridget, Naim M. Maalouf, Khashayar Sakhaee y Orson W. Moe. Medical management of nephrocalcinosis and nephrolithiasis. Editado por Mark E. De Broe. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0205_update_001.
Levtchenko, Elena N. y Mirian C. Janssen. Cystinosis. Editado por Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0339_update_001.
Daudon, Michel y Paul Jungers. Cystine stones. Editado por Mark E. De Broe. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0203_update_001.
Capítulos de libros sobre el tema "Cystinuria":
Gagnadoux, M. F. "Cystinuria". En Inborn Metabolic Diseases, 569–71. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-662-02613-7_42.
Baum, Michelle A. "Cystinuria". En Pocket Guide to Kidney Stone Prevention, 91–97. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-11098-1_11.
Rodger, R. S. C. "Cystinuria". En Calculus Disease, 73–88. Dordrecht: Springer Netherlands, 1988. http://dx.doi.org/10.1007/978-94-009-2617-2_4.
Peters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann et al. "Cystinuria". En Encyclopedia of Molecular Mechanisms of Disease, 488–89. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_445.
Jessen, Jan Peter y Thomas Knoll. "Management of Cystinuria". En Urolithiasis, 757–65. London: Springer London, 2012. http://dx.doi.org/10.1007/978-1-4471-4387-1_92.
Krombach, Patrick, Gunnar Wendt-Nordahl y Thomas Knoll. "Cystinuria and Cystine Stones". En Urinary Tract Stone Disease, 207–15. London: Springer London, 2010. http://dx.doi.org/10.1007/978-1-84800-362-0_17.
Pierides, A. M. y C. C. Deltas. "Clinical Aspects of Cystinuria". En Hereditary Kidney Diseases, 167–72. Basel: KARGER, 1997. http://dx.doi.org/10.1159/000059895.
Sumorok, Nicola T. y David S. Goldfarb. "Cystinuria: Assessing and Managing Risk". En Practical Controversies in Medical Management of Stone Disease, 105–14. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-9575-8_8.
Koide, T., M. Utsunomiya, S. Yamaguchi y T. Yoshioka. "A New Therapeutic Agent for Cystinuria". En Urolithiasis 2, 571–74. Boston, MA: Springer US, 1994. http://dx.doi.org/10.1007/978-1-4615-2556-1_228.
Bruno, M. y M. Marangella. "Cystinuria: Recent Advances in Pathophysiology and Genetics". En Hereditary Kidney Diseases, 173–77. Basel: KARGER, 1997. http://dx.doi.org/10.1159/000059896.
Actas de conferencias sobre el tema "Cystinuria":
Florio, L. Di, V. Verrotti di Pianella, A. Lanzano, G. Nardella, T. Merola, F. Sica, A. Longo y M. Pettoello-Mantovani. "P87 A case of cystinuria". En 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.175.