Search results
Results From The WOW.Com Content Network
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
The treatment of each neurocutaneous syndrome is unique. For some neurocutaneous syndromes such as neurofibromatosis 1 and tuberous sclerosis complex there are guidelines with recommendations for surveillance and management. [78] [79] For less common syndromes such guidelines are not yet available. Surveillance is a necessity for many ...
The history of tuberous sclerosis (TSC) research spans less than 200 years. TSC is a rare, multi-system genetic disease that can cause benign tumours to grow on the brain or other vital organs such as the kidneys , heart , eyes , lungs , and skin .
Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2 . The complex is known as a tumor suppressor.
Tuberous sclerosis complex (TSC) tumor suppressors form the TSC1-TSC2 molecular complex. Under poor growth conditions the TSC1-TSC2 complex limits cell growth. [1] A key promoter of cell growth, mTORC1, is inhibited by the tuberous sclerosis complex. [1] Insulin activates mTORC1 and causes dissociation of TSC from the surface of lysosomes. [2]
Angiomyolipoma is seen at right in pie chart. Angiomyolipomas are the most common benign tumour of the kidney, and are found either in patients with tuberous sclerosis or sporadically. About 80–90% of cases are sporadic, and these are most commonly found in middle-aged women. [6]
It contains 22 large coloured plates with 400 figures presented in a systematic order. On page 20, fig. 1 is a drawing that is regarded as the earliest description of tuberous sclerosis. Entitled "végétations vasculaires", Rayer notes these are "small vascular, of papulous appearance, widespread growths distributed on the nose and around the ...
Defects in this gene can cause tuberous sclerosis, due to a functional impairment of the TSC complex. [citation needed] Defects in TSC1 may also be a cause of focal cortical dysplasia. [citation needed] TSC1 may be involved in protecting brain neurons in the CA3 region of the hippocampus from the effects of stroke. [7]