Literatura científica selecionada sobre o tema "Gène CAV-3"
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Artigos de revistas sobre o assunto "Gène CAV-3"
Cohen-Haguenauer, Odile. "Prédisposition héréditaire au cancer du sein (2)". médecine/sciences 35, n.º 4 (abril de 2019): 332–45. http://dx.doi.org/10.1051/medsci/2019072.
Texto completo da fonteRICARD, A. "Les croisements franco-américains chez le trotteur : une expérience réussie ?" INRAE Productions Animales 18, n.º 2 (7 de maio de 2005): 79–86. http://dx.doi.org/10.20870/productions-animales.2005.18.2.3511.
Texto completo da fonteSaadi, Abdelkrim, Chahinez Meftah, Laurence Colleaux, Habiba Louadfel, Cherifa Sengad, Lamine Moussa e Meriem Abada-Bendib. "Pelizaeus-Merzbacher-like (PML), À propos de 3 cas avec une nouvelle mutation du gène GJC2". Revue Neurologique 173 (março de 2017): S155. http://dx.doi.org/10.1016/j.neurol.2017.01.288.
Texto completo da fonteMalfatti, Edoardo, e Isabelle Richard. "Calpaïnopathies". médecine/sciences 36 (dezembro de 2020): 17–21. http://dx.doi.org/10.1051/medsci/2020244.
Texto completo da fonteCaux, F., L. Maksimovic, J. Stirnemann, L. Cuisset, S. Rouaghe, E. Letellier, O. Fain e L. Laroche. "C30 - Efficacité de l’anakinra et nouvelle mutation du gène CIAS1 dans le syndrome de Muckle-Wells : 3 cas". Annales de Dermatologie et de Vénéréologie 132 (outubro de 2005): 20. http://dx.doi.org/10.1016/s0151-9638(05)79651-4.
Texto completo da fonteOkolo, G. P., S. S. A. Egena, B. O. Otu e A. B. Sikiru. "Expression of major histocompatibility complex class II gene in commercial strains of broiler chickens administered varying levels of aqueous ginger extract". Nigerian Journal of Animal Production 49, n.º 5 (26 de maio de 2023): 147–55. http://dx.doi.org/10.51791/njap.v49i5.3773.
Texto completo da fonteBorie, R. "Cas clinique n° 3 : Diagnostic et traitement d’une fibrose pulmonaire idiopathique avec mutation des gènes des télomérases". Revue des Maladies Respiratoires Actualités 11, n.º 1 (março de 2019): 19–24. http://dx.doi.org/10.1016/s1877-1203(19)30006-0.
Texto completo da fonteHesketh, John E., e Stéphane Villette. "Intracellular trafficking of micronutrients: from gene regulation to nutrient requirements". Proceedings of the Nutrition Society 61, n.º 4 (novembro de 2002): 405–14. http://dx.doi.org/10.1079/pns2002176.
Texto completo da fonteMartin, L., N. Cordel, J. Chevrant-breton, N. Chassaing, J. Borg e E. Legac. "C29 - Association pseudoxanthome élastique et déficit en facteurs de coagulation dépendants de la vitamine K : un phénotype PXE particulier indépendant du gène abcc6 ? 3 cas". Annales de Dermatologie et de Vénéréologie 132 (outubro de 2005): 19–20. http://dx.doi.org/10.1016/s0151-9638(05)79650-2.
Texto completo da fonteGROSCLAUDE, F., P. MARTIN, G. RICORDEAU, F. REMEUF, L. VASSAL e J. BOUILLON. "Du gène au fromage : le polymorphisme de la caséine alphas1 caprine, ses effets, son évolution". INRAE Productions Animales 7, n.º 1 (24 de fevereiro de 1994): 3–19. http://dx.doi.org/10.20870/productions-animales.1994.7.1.4153.
Texto completo da fonteTeses / dissertações sobre o assunto "Gène CAV-3"
Lemerle, Eline. "Rôle des cavéoles dans la formation des tubules-T et dans la physiopathologie des cavéolinopathies". Electronic Thesis or Diss., Sorbonne université, 2021. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2021SORUS010.pdf.
Texto completo da fonteIn skeletal muscle, invaginations of the sarcolemma called caveolae and their main component Cav-3 are thought to be involved in the formation of transverse tubules. T-tubules are muscle structures that allow the action potential to be propagated into the muscle fibre. However, the mechanism linking them together remains unknown. The importance of caveolae and Cav-3 is accentuated by the existence of defects in the organisation and function of caveolae in caveolinopathies, autosomal dominant neuromuscular diseases due to mutations in the CAV-3 gene, the pathophysiological mechanisms of which are still not understood. The objective of my project was to understand the role of caveolae in the early formation of T-tubules. A correlative microscopy technique combining super-resolution fluorescence and electron microscopy on metal replicas was used to examine in detail the molecular components of caveolae and T-tubules in extensively differentiated myotubes. I showed the organisation of caveolae on Bin1 platforms forming a novel ring structure that appears to optimise membrane tubulation in the initiation of T-tubule formation. These rings and Bin1-mediated membrane tubulation are impaired in Cav-3 expression defects and in myotubes from caveolinopathic patients. My work suggests that caveolae rings are the site of T-tubule initiation and provides the basis for characterising T-tubule biogenesis in skeletal muscle and in the pathophysiology of caveolinopathies