Literatura académica sobre el tema "Cockayne, Syndrome de – Étiologie"
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Artículos de revistas sobre el tema "Cockayne, Syndrome de – Étiologie"
Khan, Firosh, Thomas Chemmanam y PS Mathuranath. "Cockayne syndrome". Annals of Indian Academy of Neurology 11, n.º 2 (2008): 125. http://dx.doi.org/10.4103/0972-2327.41884.
Texto completoMallory, Susan B., Bernice R. Krafchik, Matthew M. Bender, Lorraine Potocki y Denise W. Metry. "Cockayne Syndrome". Pediatric Dermatology 20, n.º 6 (noviembre de 2003): 538–40. http://dx.doi.org/10.1111/j.1525-1470.2003.20619.x.
Texto completoLEECH, RICHARD W., ROGER A. BRUMBACK, RONALD H. MILLER, FUJIO OTSUKA, ROBERT E. TARONE y JAY H. ROBBINS. "Cockayne Syndrome". Journal of Neuropathology and Experimental Neurology 44, n.º 5 (septiembre de 1985): 507–19. http://dx.doi.org/10.1097/00005072-198509000-00006.
Texto completoBrodsky, Michael C. y Deborah L. Renaud. "Pseudopapilledema in Cockayne syndrome". American Journal of Ophthalmology Case Reports 22 (junio de 2021): 101035. http://dx.doi.org/10.1016/j.ajoc.2021.101035.
Texto completoKoob, M., V. Laugel, M. Durand, H. Fothergill, C. Dalloz, F. Sauvanaud, H. Dollfus, I. J. Namer y J. L. Dietemann. "Neuroimaging In Cockayne Syndrome". American Journal of Neuroradiology 31, n.º 9 (3 de junio de 2010): 1623–30. http://dx.doi.org/10.3174/ajnr.a2135.
Texto completoSowmini, PR, MSathish Kumar, SSakthi Velayutham, G. Revathy y S. Arunan. "Cockayne syndrome in siblings". Neurology India 66, n.º 5 (2018): 1488. http://dx.doi.org/10.4103/0028-3886.241349.
Texto completoBhojwani, Rajan, I. Chris Lloyd, Suemyaa Alam y Jane Ashworth. "Blepharokeratoconjunctivitis in Cockayne Syndrome". Journal of Pediatric Ophthalmology & Strabismus 46, n.º 3 (1 de mayo de 2009): 184–85. http://dx.doi.org/10.3928/01913913-20090505-15.
Texto completoWooldridge, W. J., O. R. Dearlove y A. A. Khan. "Anaesthesia for Cockayne syndrome". Anaesthesia 51, n.º 5 (mayo de 1996): 478–81. http://dx.doi.org/10.1111/j.1365-2044.1996.tb07795.x.
Texto completoHara, Iwao, George Umemoto, Hiromasa Takahashi y Toshihiro Kikuta. "Swallowing in Cockayne Syndrome". Oral Science International 5, n.º 2 (noviembre de 2008): 141–45. http://dx.doi.org/10.1016/s1348-8643(08)80019-5.
Texto completoCUNHA, KARIN SOARES GONÇALVES, RAQUEL RICHELIEU LIMA DE ANDRADE PONTES, RAFAELA ELVIRA ROZZA DE MENEZES, ELOÁ BORGES LUNA, ARLEY SILVA, KARLA BIANCA FERNANDES DA COSTA FONTES y ALEXANDRE TRINDADE SIMÕES DA MOTTA. "Cockayne Syndrome: Case Report". Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 117, n.º 2 (febrero de 2014): e148. http://dx.doi.org/10.1016/j.oooo.2013.11.085.
Texto completoTesis sobre el tema "Cockayne, Syndrome de – Étiologie"
Fernández, Molina Cristina. "Mechanisms of precocious ageing in a human progeroid syndrome". Electronic Thesis or Diss., Sorbonne université, 2021. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2021SORUS282.pdf.
Texto completoDissecting the molecular defects in rare genetic disorders like Cockayne syndrome (CS), in which ageing is dramatically accelerated, is critical to develop treatments, which are missing to date, and elucidate dysfunctions that are possibly implicated in physiological ageing. CS also displays a large spectrum of clinical severity which does not rely on simple genotype/phenotype correlation. This project is based on a working model established in the lab that identified CS-specific depletion of the mitochondrial DNA polymerase POLG1 leading to mitochondrial dysfunction, as a possible cause of CS progeroid defects. POLG1 depletion required overexpression of the HTRA3 protease, which was trigged by increased oxidative/nitrosative stress. Scavenging both reactive species, rescued these defects and opened the path to a treatment for CS. This PhD work: i) Contributed to the discovery that the CS-defective pathway is recapitulated in replicative senescence of normal cells, a process linked to regular aging. ii) Identified the mechanism of HTRA3-dependent POLG1 degradation in CS and senescent cells with implications for POLG1 homeostasis in normal cells. iii) Developed multiple isogenic cellular models (skin fibroblasts, induced pluripotent stem cells and cerebral organoids) with CRISPR-Cas9 that are essential for mechanistic studies and to address genotype/phenotype correlations, in the absence of a reliable mouse model for CS. Taken together, these studies provide novel insights into the mechanisms leading to defects in progeroid CS and their links with physiological ageing. They also establish unique CS models for studying CS pathogenesis
Kristensen, Ulrik. "Immediate early repressor ATF3 inhibits transcription in Cockayne syndrome". Strasbourg, 2011. http://www.theses.fr/2011STRA6064.
Texto completoCockayne Syndrome is a rare inherited autosomal recessive disease with diverse clinical symptoms including severe impairment of physical development, cachectic dwarfism, progressive neurological degeneration, white matter hypomyelination, central nervous system calcification, sensorineural hearingloss, lack of subcutaneous fat, cataracts, retinopathy and hypersensitivity to sunlight. Cockayne Syndrome is typically caused by mutations in the CSA and CSB genes, encoding proteins involved in transcription coupled nucleotide excision repair (TC-NER). TC-NER defect caused by CSA and CSB mutation, results in unintended stalling of Pol II at bulky UV induced DNA lesions. During the last years an open question has been, how to explain transcriptional gene-specific changes in CS cells upon genotoxic attack. Intrigued by this question, we studied extensively the transcription of two different genes: one gene misregulated in CS (DHFR), and one gene normally regulated in CS (GADD45). On the promoter of the misregulated gene, we discovered a putative CRE/ATF regulatory site, which is known to cause repression by targeting of ATF3. Using western blotting and chromatin immunoprecipitation we found that, in response to UV irradiation ATF3 was highly overexpressed in CS cells, and was subsequently recruited to the CRE/ATF site on DHFR promoter, thereby preventing the recruitment of basal transcription factors and inhibiting transcription of the gene. Finally, we showed that the overexpression of ATF3 could be induced in wild type cells by a slight inhibition of Pol II elongation, connecting the transcriptional changes observed in CS, to the TC-NER deficiency of these cells
Laugel, Vincent. "Etude clinique, cellulaire et moléculaire du syndrome de Cockayne". Université Louis Pasteur (Strasbourg) (1971-2008), 2008. http://www.theses.fr/2008STR15786.
Texto completoCockayne syndrome is an autosomal recessive disorder caused by mutations in the CSA and CSB genes, and is characterized by growth failure, neurological involvement, sensorial impairment and cutaneous photosensitivity. Cells derived from Cockayne patients show a specific defect in a DNA repair pathway (“nucleotide excision repair”). We have conducted an exhaustive study of 39 patients. We have tested the validity of the classical diagnostic criteria and proposed modifications to improve their specificity. We have identified 31 novel mutations in CSB (in addition to the 26 mutations known to date) and 6 novel mutations in CSA (in addition to the 16 mutations known to date), and we discuss different hypotheses regarding genotype-phenotype correlations
UGGE', MARTINA. "Identification of new signaling pathways altered in Cockayne syndrome". Doctoral thesis, Università degli studi di Pavia, 2017. http://hdl.handle.net/11571/1203362.
Texto completoHarraway, James. "Interaction of the cockayne syndrome B (CSB) protein with the genome". Thesis, University of Oxford, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.496908.
Texto completoAlupei, Marius-Costel [Verfasser]. "A DNA repair-independent pathomechanism in Cockayne syndrome / Marius-Costel Alupei". Ulm : Universität Ulm, 2018. http://d-nb.info/1155473663/34.
Texto completoMallery, Donna Louise. "The identification and analysis of mutation in the Cockayne Syndrome B gene". Thesis, Open University, 1999. http://oro.open.ac.uk/57982/.
Texto completoCostanzo, Federico. "Role of NER factors in transcription". Thesis, Strasbourg, 2017. http://www.theses.fr/2017STRAJ099.
Texto completoMutations in genes coding for NER factors give rise to autosomal recessive diseases such as Xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). The phenotypes associated with these genetic syndromes spans from extreme sensitivity to UV light, with increased predisposition to cancer (for XP and combined XP/CS, mostly), mental retardation and progeria (for CS and combined XP/CS). Whether the correlation between defective DNA repair reactions and UV-sensitivity/cancer may be more intuitive, a link with neurological/progeroid symptoms is still a matter of debate. As a possible explanation, it has been proposed a connection between NER and transcription regulation. We propose additional insights on XPG and XPC roles in transcription regulation in absence of exogenous stress and how CSA and CSB orchestrate transcription arrest due to genotoxic attack. XPC was able to stably interact with NSD3 methyltransferase. Mutations in XPC also disturbed the transcriptome and the H3K36me3 distribution. Mutations in XPG deregulate gene expression and XPG is able to be recruited genome wide together with TFIIH. CSA and CSB can, as part of the ubiquitin/proteasome machinery, regulate the recruitment timing of DNA binding factors and control transcriptional program after UV irradiation. Hence, our data shed more light in NER factors role in transcription and their defective action as a cause of XP and XP/CS disorders. Additionally, our data provide explanations on the mechanism of transcription arrest following genotoxic stress and pose questions about the origins of CS phenotype
SUN, Xue-Zhi, Yoshi-Nobu HARADA, Chun GUI, Rui ZHANG, Sentaro TAKAHASHI, Yoshihiro Fukui y Yoshiharu MURATA. "Developmental Characteristics of Mice Lacking the DNA Excision Repair Gene XPG". Research Institute of Environmental Medicine, Nagoya University, 2002. http://hdl.handle.net/2237/2786.
Texto completoVessoni, Alexandre Teixeira. "Mecanismos de resistência à cloroquina em células de glioma humano e o uso de neurônios humanos derivados de células-tronco pluripotentes induzidas como modelo de estudo da síndrome de Cockayne". Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/42/42132/tde-06102015-200543/.
Texto completoGenome integrity is constantly threatened by chemical and physical exogenous agents, as well as products of cells own metabolism, and capability of cells to overcome these challenges is essential to achieve homeostasis. In response to DNA lesions, cells activate a dynamic and intricate DNA damage response that ultimately results either in lesion resolution, or in cell death through apoptosis. Regardless the fate chosen, tissue homeostasis is the ultimate goal. Flaws in this mechanism are associated to an increase in mutation rates. Although it constitutes the basis of genetic diversity and evolution, it is also strictly associated to tumorigenesis and aging. In this thesis, separated in two chapters, we used human glioma cells as a model to study adjuvant chemotherapy, and induced pluripotent stem cells-derived human neurons as a model to study neurodegeneration in Cockayne syndrome, a genetic disease in which patients display defects in DNA repair mechanisms, and also premature aging. In the first chapter, we investigated the response of cancer cells to chloroquine, a promising adjuvant drug in glioma therapy, and we noticed that cellsresistance to this drug was strictly associated to its mitochondrial membrane potential values, which could be dismantled through ATR inhibition. Interestingly, we noticed that the ability of ATR to promote resistance of glioma cells to chloroquine was independent of its canonical role in the DNA damage response. We also noticed that combined treatment of chloroquine to ATR inhibition through gene silencing exerted a powerful toxic effect on glioma cells treated with the chemotherapeutic Temozolomide. In the second chapter of this thesis, we employed cell reprogramming technique to obtain, for the first time, human neurons from Cockayen Syndrome patients from skin fibroblasts. With this model, we were able to identify a reduced density of synaptic puncta, as well as reduced synchrony in the activity of the patients neurons. Through RNA sequencing, we noticed several pathways related to synapses and neuronal function deregulated in Cockayne Sydrome patients neurons. Implications for the use of chloroquine as an adjuvant drug in glioma therapy, as well as the advantage of using iduced pluripotent stem cells-derived Cockayne syndrome human neurons (instead of currently available models) to study this disease, are also discussed.
Libros sobre el tema "Cockayne, Syndrome de – Étiologie"
I, Ahmad Shamim, ed. Molecular mechanisms of Cockayne syndrome. Austin, Tex: Landes Bioscience, 2009.
Buscar texto completoParker, James N. y Philip M. Parker. Cockayne syndrome: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.
Buscar texto completoJ, Epstein Charles y National Down Syndrome Society (U.S.), eds. Etiology and pathogenesis of Down syndrome: Proceedings of the International Down Syndrome Research Conference. New York: Wiley-Liss, 1995.
Buscar texto completoCantwell, Alan. AIDS and the doctors of death: An inquiry into the origin of the AIDS epidemic. Los Angeles: Aries Rising Press, 1988.
Buscar texto completoCantwell, Alan. AIDS and the doctors of death: An inquiry into the origin of the AIDS epidemic. Los Angeles: Aries Rising Press, 1988.
Buscar texto completoJ, Hassold Terry y Epstein Charles J, eds. Molecular and cytogenetic studies of non-disjunction: Proceedings of the Fifth Annual National Down Syndrome Society Symposium held in New York, NY, December 1-2, 1988. New York: A.R. Liss, 1989.
Buscar texto completoL, Petrakis Peter, American Medical Society on Alcoholism and Other Drug Dependencies., National Council on Alcoholism y AIDS and Chemical Dependency Forum (1986 : San Francisco, Calif.), eds. Acquired Immune Deficiency Syndrome and chemical dependency: Report of symposium. Rockville, Md: U.S. Dept. of Health and Human Services, Public Health Service, Alcohol, Drug Abuse, and Mental Health Administration, National Institute on Alcohol Abuse and Alcoholism, 1987.
Buscar texto completoMazeau, Michèle. Dysphasies, troubles mnésiques, syndrome frontal chez l'enfant atteint de lésions cérébrales précoces: Du trouble à la rééducation. Paris: Masson, 1999.
Buscar texto completoMazeau, Michèle. Dysphasies, troubles mnésiques, syndrome frontal chez l'enfant atteint de lésions cérébrales précoces: Du trouble à la rééducation. Paris: Masson, 1997.
Buscar texto completoThe failed back syndrome: Etiology and therapy. 2a ed. New York: Springer-Verlag, 1992.
Buscar texto completoCapítulos de libros sobre el tema "Cockayne, Syndrome de – Étiologie"
Gilbert, Patricia. "Cockayne syndrome". En The A-Z Reference Book of Syndromes and Inherited Disorders, 67–69. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_17.
Texto completoStefanini, Miria y Martino Ruggieri. "Cockayne Syndrome". En Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes, 793–819. Vienna: Springer Vienna, 2008. http://dx.doi.org/10.1007/978-3-211-69500-5_52.
Texto completoWeidenheim, Karen M. y P. J. Brooks. "Cockayne Syndrome". En Developmental Neuropathology, 427–35. Oxford, UK: John Wiley & Sons, Ltd, 2018. http://dx.doi.org/10.1002/9781119013112.ch35.
Texto completoPanteliadis, Christos P. "Cockayne Syndrome". En Neurocutaneous Disorders, 353–59. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-87893-1_30.
Texto completoPeters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann et al. "Cockayne Syndrome". En Encyclopedia of Molecular Mechanisms of Disease, 385. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_369.
Texto completoKubota, Masaya. "Cockayne Syndrome: Clinical Aspects". En DNA Repair Disorders, 115–32. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-10-6722-8_9.
Texto completoEmmert, Steffen. "Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy". En Harper's Textbook of Pediatric Dermatology, 135.1–135.24. Oxford, UK: Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781444345384.ch135.
Texto completoHayashi, Masaharu. "Neurological Disorders and Challenging Intervention in Xeroderma Pigmentosum and Cockayne Syndrome". En DNA Repair Disorders, 87–98. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-10-6722-8_7.
Texto completoGuo, Chaowan y Tomoo Ogi. "Disorders with Deficiency in TC-NER: Molecular Pathogenesis of Cockayne Syndrome and UV-Sensitive Syndrome". En DNA Repair Disorders, 25–40. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-10-6722-8_2.
Texto completoArlett, Colin F. y Alan R. Lehmann. "Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: sun sensitivity, DNA repair defects and skin cancer". En Genetic Predisposition to Cancer, 185–206. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-4501-3_12.
Texto completoActas de conferencias sobre el tema "Cockayne, Syndrome de – Étiologie"
Fisher, Arie, Muhammad Asghar, Stephanie Ryan, Bryan Lynch, Andrew Green y Ina Knerr. "GP59 A rare cause of ‘mitochondrial disorder’: cockayne syndrome". En Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.125.
Texto completoWagner, Maximilian, Fatima Khalid, Gaojie Zhu, Katrin Lindenberg, G. Bernhard Landwehrmeyer, Medhani Mulaw y Sebastian Iben. "A12 Loss of proteostasis in huntington disease – lessons from cockayne syndrome". En EHDN 2022 Plenary Meeting, Bologna, Italy, Abstracts. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/jnnp-2022-ehdn.12.
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