Molecular genetic advances in tuberous sclerosis

@article{Cheadle2000MolecularGA,
  title={Molecular genetic advances in tuberous sclerosis},
  author={Jeremy P. Cheadle and Mary Pat Reeve and Julian R. Sampson and David J. Kwiatkowski},
  journal={Human Genetics},
  year={2000},
  volume={107},
  pages={97-114}
}
Abstract. Over the past decade, there has been considerable progress in understanding the molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous growths in numerous organs. We review this progress, from cloning and characterising TSC1 and TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products hamartin and tuberin, and the identification and engineering of animal models. We also present the first… 
Tuberous sclerosis complex.
Genetics of tuberous sclerosis complex: an update
TLDR
The identification of TSC1 and TSC2, as tumor suppressor genes causative of the disorder, led to the elucidation of the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway and its pivotal role in the pathogenesis of hamartoma formation.
Proteins interacting with the tuberous sclerosis gene products
TLDR
Hamartin and tuberin form a complex, providing a tentative explanation for the similar disease phenotype in TSC patients with mutations in either of these genes.
Renal Manifestations of Tuberous Sclerosis Complex
TLDR
The current understanding on the renal manifestations of TSC is highlighted along with current diagnosis and treatment guidelines.
Retracted Tuberous sclerosis complex: molecular pathogenesis and animal models
TLDR
Relevant animal models, including conventional and conditional knockout mice, are valuable tools for studying the normal functions of tuberin and hamartin and the way in which disruption of their expression gives rise to the variety of clinical features that characterize TSC.
Tuberous sclerosis complex: molecular pathogenesis and animal models.
TLDR
Relevant animal models, including conventional and conditional knockout mice, are valuable tools for studying the normal functions of tuberin and hamartin and the way in which disruption of their expression gives rise to the variety of clinical features that characterize TSC.
Tuberous sclerosis complex: tumors and tumorigenesis
TLDR
The authors elucidate the variety of neoplasms seen in TSC patients, along with their clinical significance, and suggest suitable evaluation and management strategies.
Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1
TLDR
Current laboratory investigations are focused on bringing clinical relevance to Tuberous sclerosis complex and neurofibromatosis 1, including the prospects of molecular diagnostics and rational therapeutics.
Review Tuberous sclerosis gene products in proliferation control
TLDR
Why TSC is a disease of proliferation/cell cycle control is discussed including very recent data obtained from analyzing mice expressing a modulated TSC2 transgene, and from studying the effects of deregulated TSC1 expression.
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TLDR
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TLDR
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