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About: Timeline of tuberous sclerosis     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:Timeline106504965, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: yago:WikicatMedicineTimelinesyago:Abstraction100002137yago:Chronology106503224yago:Communication100033020yago:Evidence106643408yago:Indication106797169yago:Record106647206yago:WrittenRecord106502378yago:Timeline106504965 New Facet based on Instances of this Class

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. A combination of symptoms may include seizures, developmental delay, behavioural problems and skin abnormalities, as well as lung and kidney disease. TSC is caused by mutations on either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively. These proteins act as tumour growth suppressors and regulate cell proliferation and differentiation. Originally regarded as a rare pathological curiosity, it is now an important focus of research into tumour formation and suppression.