Bilateral renal angiomyolipomas and subependymal giant cell astrocytoma associated with tuberous sclerosis complex: A case report and review of the literature

Autor: Rambabova Bushljetik I, Lazareska M, Barbov I, Stankov O, Filipce V, Spasovski G

Publikováno v: Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 93-98 (2021)

Tuberous sclerosis complex (TSC) is an autosomal-dominant multi system disorder. The genetic basis of the disorder is mutations in the TSC1 or TSC2 gene, which leads to over activation of the mammalian target of rapamycin (mTOR) protein complex and r

Externí odkaz: https://doaj.org/article/9eda31861dc54f70a3dd391f18d2b039

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Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility

Autor: Keishiro Sato, Yoshifumi Arai, Akiko Fukunaga, Hidenori Nakamura, Akira Obana, Kyoichi Tomoto, Hideo Enoki, Ayataka Fujimoto, Chikanori Inenaga, Shin Imai, Takayuki Masui, Masaaki Ogai, Tohru Okanishi

Publikováno v: BMC Neurology
BMC Neurology, Vol 21, Iss 1, Pp 1-7 (2021)

Background Subependymal giant cell astrocytoma (SEGA) is occasionally seen in tuberous sclerosis complex (TSC). Two main options are currently available for treating SEGA: surgical resection or pharmacotherapy using mammalian target of rapamycin inhi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dfc4a19e91931ef0902e517f415cfe6
https://doi.org/10.1186/s12883-021-02160-5

Dysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex: Modulation of MMP by MicroRNA-320d In Vitro

Autor: Wiesława Grajkowska, Johannes A. Hainfellner, Julita Borkowska, Wim G.M. Spliet, Floor E. Jansen, Angelika Mühlebner, Anika Bongaarts, Caroline Mijnsbergen, Lorenzo Genitori, Jackelien van Scheppingen, Chiara Caporalini, Katarzyna Kotulska, Jasper J. Anink, Theresa Scholl, Sergiusz Jozwiak, Jody M de Jong, Flavio Giordano, Diede W. M. Broekaart, Brendon P. Scicluna, Erwin A. van Vliet, Martha Feucht, Eleonora Aronica, Antoinette Y. N. Schouten-van Meeteren, Anna Maria Buccoliero, James D. Mills, Victoria E Gruber, Wilfred F. A. den Dunnen

Publikováno v: Journal of neuropathology and experimental neurology, 79(7):nlaa040, 777-790. Oxford University Press
Journal of Neuropathology and Experimental Neurology
Journal of Neuropathology and Experimental Neurology, 79(7), 777-790. Lippincott Williams & Wilkins
Journal of neuropathology and experimental neurology, 79(7), 777-790. Lippincott Williams and Wilkins

Tuberous sclerosis complex (TSC), a rare genetic disorder caused by a mutation in the TSC1 or TSC2 gene, is characterized by the growth of hamartomas in several organs. This includes the growth of low-grade brain tumors, known as subependymal giant c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef56193138f86b69a1c19148b311f698
https://research.rug.nl/en/publications/ab4fabf9-637e-48d6-a410-5a0e0b600ec2