Tuberous sclerosis complex

EP Henske, S Jóźwiak, JC Kingswood… - Nature reviews Disease …, 2016 - nature.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …

The tuberous sclerosis complex

PB Crino, KL Nathanson… - New England Journal of …, 2006 - Mass Medical Soc
The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder
affecting children and adults, results from mutations in one of two genes, TSC1 (encoding …

Amplification of human interneuron progenitors promotes brain tumors and neurological defects

OL Eichmüller, NS Corsini, Á Vértesy, I Morassut… - Science, 2022 - science.org
Evolutionary development of the human brain is characterized by the expansion of various
brain regions. Here, we show that developmental processes specific to humans are …

Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double …

JJ Bissler, JC Kingswood, E Radzikowska… - The Lancet, 2013 - thelancet.com
Background Angiomyolipomas are slow-growing tumours associated with constitutive
activation of mammalian target of rapamycin (mTOR), and are common in patients with …

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 …

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

M Slegtenhorst, R Hoogt, C Hermans, M Nellist… - Science, 1997 - science.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
widespread development of distinctive tumors termed hamartomas. TSC-determining loci …

[KSIĄŻKA][B] Pathology and genetics of tumours of the nervous system.

P Kleihues, WK Cavenee - 2000 - cabidigitallibrary.org
This book on the World Health Organization (WHO) classification of tumours of the nervous
system reflects the view of a working group that convened for an editorial and consensus …

[HTML][HTML] Phosphorylation and functional inactivation of TSC2 by Erk: implications for tuberous sclerosisand cancer pathogenesis

L Ma, Z Chen, H Erdjument-Bromage, P Tempst… - Cell, 2005 - cell.com
Tuberous sclerosis (TSC) is a tumor syndrome caused by mutation in TSC1 or TSC2 genes.
TSC tumorigenesis is not always accompanied by loss of heterozygosity (LOH). Recently …

Genetically engineered human cortical spheroid models of tuberous sclerosis

JD Blair, D Hockemeyer, HS Bateup - Nature medicine, 2018 - nature.com
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by
mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of …

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

SL Dabora, S Jozwiak, DN Franz, PS Roberts… - The American Journal of …, 2001 - cell.com
Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations
in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis in …