Clinical manifestations of tuberous sclerosis complex
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Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Yuzuncu Yil Universitesi Tip Fakultesi
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Autosomal Dominant, Tuberous Sclerosis
Kaynak
Eastern Journal of Medicine
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
18
Sayı
2
