Tuberous sclerosis
P Curatolo, R Bombardieri, S Jozwiak - The Lancet, 2008 - thelancet.com
Tuberous sclerosis is a genetic multisystem disorder characterised by widespread
hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver …
hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver …
[HTML][HTML] TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
C Rosset, CBO Netto, P Ashton-Prolla - Genetics and molecular …, 2017 - SciELO Brasil
Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin
manifestations and formation of multiple tumors in different organs, mainly in the central …
manifestations and formation of multiple tumors in different organs, mainly in the central …
[HTML][HTML] Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
ME Tyburczy, KA Dies, J Glass, S Camposano… - PLoS …, 2015 - journals.plos.org
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene
syndrome due to germline mutations in either TSC1 or TSC2. 10–15% of TSC individuals …
syndrome due to germline mutations in either TSC1 or TSC2. 10–15% of TSC individuals …
Eosinophilic solid and cystic (ESC) renal cell carcinomas harbor TSC mutations: molecular analysis supports an expanding clinicopathologic spectrum
DN Palsgrove, Y Li, CA Pratilas, MT Lin… - The American journal …, 2018 - journals.lww.com
Eosinophilic solid and cystic (ESC) renal cell carcinoma (RCC) has recently been described
as a potentially new subtype of RCC based upon morphologic and immunohistochemical …
as a potentially new subtype of RCC based upon morphologic and immunohistochemical …
Eosinophilic renal cell tumors with a TSC and MTOR gene mutations are morphologically and immunohistochemically heterogenous: clinicopathologic and molecular …
Eosinophilic renal neoplasms have a wide spectrum of histologic presentations, and several
studies have demonstrated a subtype of renal cell carcinomas (RCCs) associated with the …
studies have demonstrated a subtype of renal cell carcinomas (RCCs) associated with the …
Biallelic TSC gene inactivation in tuberous sclerosis complex
PB Crino, E Aronica, G Baltuch, KL Nathanson - Neurology, 2010 - AAN Enterprises
Background: A pivotal developmental question is whether tubers in tuberous sclerosis
complex (TSC) form by germline and somatic TSC1 or TSC2 gene mutations. Loss of TSC1 …
complex (TSC) form by germline and somatic TSC1 or TSC2 gene mutations. Loss of TSC1 …
Loss of tuberous sclerosis complex 2 (TSC2) is frequent in hepatocellular carcinoma and predicts response to mTORC1 inhibitor everolimus
Hepatocellular carcinoma (HCC) is the third leading cause of cancer deaths worldwide and
hyperactivation of mTOR signaling plays a pivotal role in HCC tumorigenesis. Tuberous …
hyperactivation of mTOR signaling plays a pivotal role in HCC tumorigenesis. Tuberous …
[HTML][HTML] Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal …
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
presence of proliferative lesions throughout the body. Management of TSC is challenging …
presence of proliferative lesions throughout the body. Management of TSC is challenging …
[HTML][HTML] Genotype and phenotype landscape of 283 Japanese patients with tuberous sclerosis complex
S Togi, H Ura, H Hatanaka, Y Niida - International Journal of Molecular …, 2022 - mdpi.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by
multiple dysplastic organ lesions and neuropsychiatric symptoms, caused by loss of function …
multiple dysplastic organ lesions and neuropsychiatric symptoms, caused by loss of function …
The clinico‐pathological characterisation of focal cortical dysplasia type IIb genetically defined by MTOR mosaicism
Y Wang, T Yu, I Blümcke, Y Cai, K Sun… - Neuropathology and …, 2023 - Wiley Online Library
Aims Focal cortical dysplasia (FCD) is a major cause of drug‐resistant paediatric epilepsy
and is amenable to successful neurosurgical resection. FCD ILAE Type IIb is the most …
and is amenable to successful neurosurgical resection. FCD ILAE Type IIb is the most …