tuberous sclerosis type 1

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tuberous sclerosis type 1

An autosomal dominant multi-system disorder (OMIM:191100) characterised by hamartomas and developmental defects, which primarily affects the brain, kidneys, heart and skin.

Clinical findings
Range from benign hypopigmented skin macules, to profound mental retardation with intractable seizures and premature death due to disease-associated causes.
 
Molecular pathology
Defects of TSC1, which encodes a putative tumour suppressor, cause tuberous sclerosis type 1.
References in periodicals archive ?
Hino, "Human bladder tumors with 2-hit mutations of the tumor suppressor gene TSC1 and decreased expression of p27," Journal of Urology, vol.
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Genetic testing is available for affected individuals to assess for disease-causing mutations or deletions in either TSC1 or TSC2.
TSC is a genetic disease caused by mutations in either one of two genes, TSC1 and TSC2.
The complex consists of two proteins, hamartin or TSC1 (the protein product of gene tsc1) and tuberin or TSC2 (the protein product of gene tsc2).
Changes (mutations) in two genes, TSC1 and TSC2, are responsible for most cases of the condition.
Two of the autism-related proteins, called SHANK3 and TSC1, had a surprisingly cozy relationship.
Sorumlu genler, TSC1 (hamartini kodlar) ve TSC2 (tuberini kodlar)'dir.
Tuberous sclerosis arises as a result of mutations in the TSC1 (9q34) and TSC2 (16p13) genes, which code for the proteins hamartin and tuberin.
El complejo formado por TSC1 (hamartina) y TSC2 (tiberina) es un heterodimero que regula negativamente la via raptor/ mTOR, ya que, estando activo, retiene e inactiva la proteina Rheb.
Geographic coordinates of the acoustic burrows of calling males were documented at the conclusion of the season using a Trimble Pro XRS unit with a TSC1 asset recorder (Navigation Limited, Sunnyvale, CA, USA), which is accurate to submeter level in most cases.