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Journals / Eastern Journal of Medicine / 2013 / Cilt: 18 Sayı: 2

Clinical manifestations of tuberous sclerosis complex

Ahmet ENGİN ATAY
Halit AKBAS
Nafi SAKAR
Semir PASA
Seyhmus ARİ
Nazim EKİN
Pages
52–57
Publication Date
2013-07-03
DOI
—
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⚡ TL;DR(Too Long; Didn't Read)

We aimedto review the clinical manifestations and their predictive role on the course of disease.Keywords: Tuberous Sclerosis, autosomal dominant

📌 3 Key Takeaways

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Objective & Hypothesis:Abstract: Tuberous sclerosiscomplex (TSC) is an autosomal dominant syndrome or in sporadic formcharacterized by hamartamatous lesions in multiple organs.
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Key Findings & Data:TSC is caused by mutations on either chromosome 9 (9q34, the TSC1 gene) or chromosome 16 (16p13,TSC2 gene).
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Conclusion & Impact:We aimedto review the clinical manifestations and their predictive role on the course of disease.Keywords: Tuberous Sclerosis, autosomal dominant
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Tuberous Sclerosis · autosomal dominant

Abstract

Abstract: Tuberous sclerosiscomplex (TSC) is an autosomal dominant syndrome or in sporadic formcharacterized by hamartamatous lesions in multiple organs. It affects severalsites such as skin, kidney, lung, heart, central nervous system and liver indiferent stages of disease. TSC is caused by mutations on either chromosome 9 (9q34, the TSC1 gene) or chromosome 16 (16p13,TSC2 gene). TSC1 and TSC2genes encode proteins called tuberin and hamartin; respectively. Although thepathogenetic mechanism is exactly unknown, a possible mechanism is aGTPase-activating protein against Rheb (Ras homolog enriched in brain),which regulates mTOR (mammalian targetof rapamycin) signaling. The mammalian target of rapamycin (mTOR), is aserine-threonine kinase that increases cell proliferation and growth. We aimedto review the clinical manifestations and their predictive role on the course of disease.Keywords: Tuberous Sclerosis, autosomal dominant

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Cite This Article

ATAY, A. E., AKBAS, H., SAKAR, N., PASA, S., ARİ, S., EKİN, N. (2013). Clinical manifestations of tuberous sclerosis complex. Eastern Journal of Medicine, Cilt: 18 Sayı: 2, 52–57. https://ajindex.com/articles/984980

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