EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9
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Cited by (340)
Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes
2022, Cell ReportsCitation Excerpt :Tuberous sclerosis complex (TSC) is a monogenic multisystem disorder characterized by tumor formations in multiple organ systems (Henske et al., 2016; Salussolia et al., 2019). The genetic etiology is biallelic inactivating mutations in either TSC1 or TSC2 (European Chromosome 16 Tuberous Sclerosis Consortium, 1993; Fryer et al., 1987; Slegtenhorst et al., 1997), canonically leading to hyperactive mTORC1 signaling (Huang and Manning, 2008). Kidney lesions affect approximately 60% to 80% of patients with TSC (Casper et al., 2002; Cook et al., 1996; O’Callaghan et al., 2004; Rakowski et al., 2006) and are the leading cause of mortality (Amin et al., 2017; Shepherd et al., 1991).
Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway
2022, Epilepsy and BehaviorCitation Excerpt :TSC1 and TSC2 are two tumor suppressor genes encoding hamartin and tuberin, respectively [4,5]. Evidence of the linkage of TSC to a gene (TSC1) located on chromosome 9q34 has been provided in 1987 [10]. The TSC1 gene contains 23 exons with 21 exons coding for an 8.6 kb transcript which is translated into the protein product hamartin.
Tuberous sclerosis complex
2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 2Electrocorticographic telemetric recording in unrestrained mouse pups
2018, Journal of Neuroscience MethodsTuberous Sclerosis Complex Kidney Lesion Pathogenesis: A Developmental Perspective
2023, Journal of the American Society of NephrologyClinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis
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