Academic literature on the topic 'Rétinopathies – Génétique'
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Journal articles on the topic "Rétinopathies – Génétique":
Taverna, M. J. "Génétique des complications du diabète : rétinopathie." Annales d'Endocrinologie 65 (February 2004): 17–25. http://dx.doi.org/10.1016/s0003-4266(04)95997-5.
Ducloyer, Jean-Baptiste, Guylène Le Meur, Thérèse Cronin, Oumeya Adjali, and Michel Weber. "La thérapie génique des rétinites pigmentaires héréditaires." médecine/sciences 36, no. 6-7 (June 2020): 607–15. http://dx.doi.org/10.1051/medsci/2020095.
Baklouti, K., L. Larguech, N. Khemiri, F. Ouechtati, I. Chouchene, S. Abdelhak, and L. El Matri. "515 Formes familiales de rétinopathie pigmentaire, étude clinique et génétique." Journal Français d'Ophtalmologie 31 (April 2008): 163–64. http://dx.doi.org/10.1016/s0181-5512(08)71113-6.
Behar-Cohen, Francine. "À quand la lumière au bout du tunnel ?" médecine/sciences 36, no. 6-7 (June 2020): 592–93. http://dx.doi.org/10.1051/medsci/2020093.
Manic, H., R. Marechaud, S. Leroux, I. Petit Paris, G. Mauco, M. Boissonnot, B. Bauduceau, B. Guerci, S. Hadjadj, and M. Marre. "263 Variants génétiques du transporteur de glucose GLUT 1 et sévérité de la rétinopathie chez le sujet diabétique de type 2." Journal Français d'Ophtalmologie 28 (March 2005): 223–24. http://dx.doi.org/10.1016/s0181-5512(05)74661-1.
Chaudieu, Gilles, and Pascale Quignon. "La rétinopathie du Border collie, une maladie héréditaire mais un gène difficile à isoler." Bulletin de l'Académie vétérinaire de France 175 (2022). http://dx.doi.org/10.3406/bavf.2022.71001.
Souza, Kauê de Melo, Lucas Facco, Amanda Alves Fecury, Maria Helena Mendonça de Araújo, Euzébio de Oliveira, Carla Viana Dendasck, Keulle Oliveira da Souza, and Claudio Alberto Gellis de Mattos Dias. "Nombre de cas de diabète de type 1 et 2 diagnostiqués à Amapá entre 2007 et 2012." Revista Científica Multidisciplinar Núcleo do Conhecimento, December 1, 2020, 18–26. http://dx.doi.org/10.32749/nucleodoconhecimento.com.br/sante/cas-de-diabete.
Dissertations / Theses on the topic "Rétinopathies – Génétique":
Bareil, Corinne. "Génétique moléculaire des rétinopathies pigmentaires en Languedoc-Roussillon." Montpellier 1, 2000. http://www.theses.fr/2000MON1T014.
Maubaret, Cécilia. "Recherche de nouveaux gènes responsables de rétinopathies pigmentaires." Montpellier 1, 2004. http://www.theses.fr/2004MON1T021.
Lafont, Estèle-Marie. "Cartographie de nouveaux loci et identification de nouveaux gènes dans les rétinopathies pigmentaires." Montpellier 1, 2008. http://www.theses.fr/2008MON1T030.
Vilboux, Thierry. "Recherche de gènes responsables de rétinopathies : apports du modèle canin." Rennes 1, 2007. http://www.theses.fr/2007REN1S024.
My Ph. D. Work consisted of the research of the genetic bases of rétinopathies in the dog, like model of the corresponding human diseases: pigmentary retinites at the Man with a prevalence of 1/3600 which end in blindness. The canine homologous of pigmentary retinites are the progressive atrophies of retina (PRA). The interest of the canine model lies in the history of the dog and the races which makes that within a race, only one form of PRA segregates and thus facilitates genetic research. My main subject dealt with a PRA in Border Collie. A pedigree of 200 dogs was made up and a recessive transmission related to X chromosome was shown. A linkage analysis permitted the identification of a new 12 Mb locus in which metabolic candidate genes had been sequenced. The Ph. D. Also presents a work on another retinopathy and genetic researches on anomalies of the development
Hebrard, Maxime. "Conception et développement d’un système d’aide au diagnostic clinique et génétique des rétinopathies pigmentaires." Thesis, Montpellier 1, 2012. http://www.theses.fr/2012MON13519/document.
Diagnosis of retinitis pigmentosa could be difficult regarding both to clinics or molecular issues. Firstly, there are rare diseases, so the prevalence of each pathology in the world population is very low. Secondly, the symptoms of diseases are very similar, so their phenotypic characterization is hard. Moreover, the eye and the visual process are complex and numerous genes' products are implicated. Although retinopathies are mainly monogenic and mendelian inherited diseases, the polymorphisms involved in these diseases are very diverse.These both observations lead us to develop two complementary methodological approaches in a view to better understand the retinopathies.The first approach aims to identify all the genes involved in the diseases using genotyping chips. For this purpose, we studied genetic linkage between single nucleotide variations and pathologies. The second approach leads to the representation of clinical knowledge. An ontological compound was built to make explicit the knowledge involved in the process of diagnosis. The data previously collected by experts were labeled by terms that were organized in a specific thesaurus. The clinic profiles of the patients and diseases were handled as features collections and were compared by similarity calculations. The goal of this work is to build a knowledge-based system for diagnosis
Bunel, Morgane. "Recherche de gènes impliqués dans des rétinopathies canines comme modèles de rétinites pigmentaires humaines." Thesis, Rennes 1, 2017. http://www.theses.fr/2017REN1B019/document.
Dogs are affected by numerous genetic diseases including retinopathies, the subject of my thesis. Historically, humans have exerted a very strong artificial selection to dogs, thus creating some 400 breeds to perform specific tasks or to harbour specific traits. By such an homogenisation of phenotypic and behavioural traits, humans have selected desired alleles but also concentrated undesired deleterious alleles responsible of genetic diseases. These diseases are clinically and genetically similar to human genetic diseases, making dogs a model of choice to search for the genetic bases of such genetic diseases and to develop new therapies for a mutual benefit for dogs and humans. I worked on Progressive Retinal Atrophies (PRA) in two breeds, thanks to the contribution of the veterinary ophthalmologist Dr. Gilles Chaudieu and the breed clubs of border collies and berger picard. Concerning the border collie PRA, genetic analyses performed before my thesis allowed the identification of a locus of 20Mb on the X chromosome. I first completed and supplemented the epidemiological and clinical data for about 500 dogs and continued the sample and data collection. A first genetic linkage analysis on 130 dogs allowed to confirm the transmission mode and the locus. I then performed several genetic analyses (« homozigosity mapping », genotypes analyses, candidate gene sequencing) without significantly reducing the locus,neither finding the causal mutation, unfortunately. In this context and thanks to the development of new sequencing technologies, I chose to sequence the entire genome of three PRA affected border collies and two unaffected related dogs. This work allowed the identification of 117variants, 9 in the locus but none in coding regions. I thus focused my research on genetic variants from potential regulatory regions for 13 candidate genes. In addition, I identified five structural variants. The analysis of these variants is still ongoing. Concerning the berger picard PRA, we have re-initiated the project by collecting samples and designing a large pedigree of 154 dogs. This workled to an international collaboration by the sequencing of the entire genomes of 2 affected and 2 unaffected bergers picards for which the statistical analyses are ongoing. This thesis allowed me to work on the genetics of rare diseases in humans with a spontaneous and original animal model and even if thiswork has not yet reached the identification of the mutations, these two PRAs in these two breeds remain good genetic and therapeutic models for human RP RetinitisPigmentosa
Abou-Sleymane, Gretta. "Polygluatamine expansion diseases : Transcriptional deregulations, alteration of the neuronal differentiation program and degeneration." Strasbourg 1, 2006. http://www.theses.fr/2006STR13209.
Gegnaw, Shumet T. "The connection between circadian clock impairment and retinal disease." Electronic Thesis or Diss., Strasbourg, 2023. http://www.theses.fr/2023STRAJ120.
This thesis investigated how circadian clock misregulation, which has not been clearly associated with retinal genetic disease so far, could contribute to degeneration and influence development and function in the retina. The rod-specific knockout of Bmal1 clock gene (rod-Bmal1KO) from the mouse line carrying the P23H mutation of rhodopsin exacerbated the retinal degeneration phenotypes, such as reduction in ERG response and rods loss, induced by the P23H mutation alone. These observations were corroborated by RNA-Seq analysis, where we found major changes in expression of genes related to phototransduction and metabolic processes, between the (rod-Bmal1KO/P23H) double mutant and P23H retinas. We showed that during development, Per1 and Per2 clock genes deficiency in mice significantly affects gene expression of phototransduction and cell cycle components. We found that adult mice deficient for Per1 and Per2 genes lack a daily modulation of light sensitivity, under scotopic and mesopic conditions. We also found an impaired daily modulation of light sensitivity in mice deficient for Bmal1 clock gene in rods. Additionally, we investigated how rod degeneration could impact on the global rhythmic capacity of the retina by measuring PER2::LUC bioluminescence rhythms in P23H mice. We showed that the retinal clock in P23H/+ heterozygous mice displays circadian rhythms with significantly increased robustness and amplitude. These effects likely involve activation of glial cells
Taverna, Mariano Javier. "Rétinopathie diabétique humaine : aspects génétiques et physiopathologiques." Paris 6, 2005. http://www.theses.fr/2005PA066113.
Omri, Samy. "Etude du rôle de la PKC Zeta dans la rétinopathie diabétique." Paris 5, 2010. http://www.theses.fr/2010PA05T033.
Diabetic retinopathy (DR) is the leading cause of blindness in patients younger than 60 years. The formation of edema due to ocular barriers alterations and inflammation are often associated with this pathology. In diabetes, the PKC zeta plays a role at different levels such as the transport of glucose, insulin resistance, and migration of macrophages in ocular inflammation. My work has focused on studying the role of PKC zeta in the molecular mechanisms involved in these alterations on Goto Kakizaki rats model of diabetes type 2. My results have demonstrated: 1°) the characterization of the outer limiting membrane (OLM) as a third retinal barrier with the presence of tight junctions. The rupture of this barrier during RD is associated with the loss of cones. 2 °) We evidenced a short form of PKC zeta and its role in the outer retinal barrier disruption (EPR). 3°) We evidenced a trans-cellular passage of activated microglia through the EPR. Taken together, the activity of PKC zeta plays a key role in this traffic, confirmed by the administration of its specific inhibitor. All these results show that prolonged activation of PKC zeta" is deleterious and contributes to the alterations observed in the DR. The use of its specific inhibitor may protect ocular barriers and decreased the inflammation. Control of prolonged activity of PKC zeta by using its specific inhibitor may be a therapeutic strategy for this pathology
Books on the topic "Rétinopathies – Génétique":
Wolfgang, Straub, ed. Proliferative vitreoretinopathy: Genetics of glaucoma. Basel ; New York: Karger, 1989.
Straub, W. Proliferative Vitreoretinopathy (Developments in Ophthalmology). S Karger Pub, 1989.