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・ Tubular Bells
・ Tubular bells
・ Tubular Bells 2003
・ Tubular Bells for Two
・ Tuberorachidion pumilio
・ Tuberoschistura
・ Tuberoschistura baenzigeri
・ Tuberositas Tibiae Advancement (TTA) technique
・ Tuberosity of the tibia
・ Tuberosity of the ulna
・ Tuberostylis
・ Tuberothelais flavolineata
・ Tuberous breasts
・ Tuberous morning glory
・ Tuberous receptor
Tuberous sclerosis
・ Tuberous sclerosis complex tumor suppressors
・ Tuberous sclerosis protein
・ Tuberozygocera albostictica
・ Tubersent
・ Tuberville
・ Tuberville v Savage
・ Tubes and primers for ammunition
・ Tubestart
・ Tubestock
・ Tubeteika
・ TubeTwist
・ Tubeufia
・ Tubeufia pezizula
・ Tubeufiaceae


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Tuberous sclerosis : ウィキペディア英語版
Tuberous sclerosis

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease. TSC is caused by a mutation of either of two genes, ''TSC1'' and ''TSC2'', which code for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.〔 (Some text copied with permission.)〕
The name, composed of the Latin ''tuber'' (swelling) and the Greek ''skleros'' (hard), refers to the pathological finding of thick, firm and pale gyri, called "tubers," in the brains of patients postmortem. These tubers were first described by Désiré-Magloire Bourneville in 1880; the cortical manifestations may sometimes still be known by the eponym Bourneville's disease.
== Signs and symptoms ==

The physical manifestations of tuberous sclerosis are due to the formation of hamartia (malformed tissue such as the cortical tubers), hamartomas (benign growths such as facial angiofibroma and subependymal nodules) and, very rarely, cancerous hamartoblastomas. The effect of these on the brain leads to neurological symptoms such as seizures, intellectual disability, developmental delay and behavioral problems. Symptoms also include trouble in school and concentration problems.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Tuberous sclerosis」の詳細全文を読む



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