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- Title
Clinical manifestations of tuberous sclerosis complex.
- Authors
Atay, Ahmet Engin; Akbas, Halit; Sakar, Nafi; Pasa, Semir; Ari, Seyhmus; Ekin, Nazim
- Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome or in sporadic form characterized by hamartamatous lesions in multiple organs. It affects several sites such as skin, kidney, lung, heart, central nervous system and liver in diferent stages of disease. TSC is caused by mutations on either chromosome 9 (9q34, the TSC1 gene) or chromosome 16 (16p13, TSC2 gene). TSC1 and TSC2 genes encode proteins called tuberin and hamartin; respectively. Although the pathogenetic mechanism is exactly unknown, a possible mechanism is a GTPase-activating protein against Rheb (Ras homolog enriched in brain), which regulates mTOR (mammalian target of rapamycin) signaling. The mammalian target of rapamycin (mTOR), is a serine-threonine kinase that increases cell proliferation and growth. We aimed to review the clinical manifestations and their predictive role on the course of disease.
- Subjects
TUBEROUS sclerosis diagnosis; GENETIC mutation; TUBERIN; HAMARTIN; GTPASE-activating protein; CELL proliferation; CELL growth; SERINE/THREONINE kinases
- Publication
Eastern Journal of Medicine, 2013, Vol 18, Issue 2, p52
- ISSN
1301-0883
- Publication type
Article