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TSC1 and Tuberous Sclerosis Complex

TSC1 and Tuberous Sclerosis Complex. Lindsey Covington. TSC1 is located a chromosome 9q34 and TSC2 is localized at 16p13.3. TSC1 and TSC2 function as a complex. Elena A. Goncharova and Vera P. Krymskaya . (2008). TSC1/TSC2 Pathway. Elena Tchevkina and Andrey Komelkov (2012).

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TSC1 and Tuberous Sclerosis Complex

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  1. TSC1 and Tuberous Sclerosis Complex Lindsey Covington

  2. TSC1 is located a chromosome 9q34 and TSC2 is localized at 16p13.3

  3. TSC1 and TSC2 function as a complex Elena A. Goncharova and Vera P. Krymskaya. (2008)

  4. TSC1/TSC2 Pathway Elena Tchevkina and AndreyKomelkov (2012). RomanaTomasoniand Anna Mondino (2011)

  5. TSC1 and TSC2 null mutants are embryonically lethal Kobayashi et al. (2001)

  6. Tuberous Sclerosis Complex (TSC) is familial and sporadic Nellist et al. (2009)

  7. There are many different types of mutations that result in TSC Sancak et al. (2005)

  8. Signs and Symptoms of TSC Facial Angiofibroma in a patient with TSC

  9. Rapamyacin treatment has been used as a targeted therapy for many manifestations of TSC Emerging Treatment Strategies for Tuberous Sclerosis Complex (2010)

  10. References Goncharova, Elena A., and Vera P. Krymskaya. "Pulmonary lymphangioleiomyomatosis (LAM): Progress and current challenges." Journal of Cellular Biochemistry 103.2 (2008): 369-82. Web. Kobayashi, T., O. Minowa, Y. Sugitani, S. Takai, H. Mitani, E. Kobayashi, T. Noda, and O. Hino. "A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice." Proceedings of the National Academy of Sciences 98.15 (2001): 8762-767. Web. Nellist, Mark, Diana Van Den Heuvel, Diane Schluep, Carla Exalto, Miriam Goedbloed, AnnekeMaat-Kievit, Ton Van Essen, Karin Van Spaendonck-Zwarts, Floor Jansen, Paula Helderman, Gabriella Bartalini, OutiVierimaa, MailaPenttinen, Jenneke Van Den Ende, Ans Van Den Ouweland, and Dicky Halley. "Missense mutations to the TSC1 gene cause tuberous sclerosis complex." European Journal of Human Genetics 17.3 (2008): 319-28. Web. Tchevkina, Elena, and AndreyKomelkov. "Protein Phosphorylation as a Key Mechanism of mTORC1/2 Signaling Pathways." Protein Phosphorylation in Human Health (2012): n. pag. Web. Tomasoni, Romana, and Anna Mondino. "The tuberous sclerosis complex: balancing proliferation and survival." Biochemical Society Transactions 39.2 (2011): 466-71. Web. "TSC1 gene - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 10 Apr. 2017. "TSC2 gene - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 10 Apr. 2017. "Tuberous Sclerosis Treatment & Management." Tuberous Sclerosis Treatment & Management: Medical Care, Surgical Care, Consultations. N.p., 06 Jan. 2017. Web. 9 Apr. 2017. "Tuberous sclerosis Symptoms." Mayo Clinic. Mayo Foundation for Medical Education and Research, 25 Nov. 2014. Web. 13 Apr. 2017. Sancak, Ozgur, Mark Nellist, Miriam Goedbloed, Peter Elfferich, CokkieWouters, AnnekeMaat-Kievit, Bernard Zonnenberg, SennoVerhoef, Dicky Halley, and Ans Van Den Ouweland. "Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex." European Journal of Human Genetics 13.6 (2005): 731-41. Web. Vasani, Reshamj. "Facial angiofibromas of tuberous sclerosis treated with topical sirolimus in an Indian patient." Indian Journal of Dermatology 60.2 (2015): 165. Web.

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