From genes to cognition in tuberous sclerosis: implications for mTOR inhibitor-based treatment approaches

D Ehninger - Neuropharmacology, 2013 - Elsevier
Tuberous sclerosis (TSC) is a neurocutaneous disorder with an autosomal-dominant pattern
of inheritance and is caused by heterozygous mutations in the TSC1 or TSC2 gene …

Malignant perivascular epithelioid cell tumor in the female genital tract: preferred reporting items for systematic reviews and meta-analyses

CH Liu, WT Chao, SC Lin, HY Lau, HH Wu, PH Wang - Medicine, 2019 - journals.lww.com
Background: Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor,
located at various anatomic sites, including the female genital tract. This study aimed to …

[HTML][HTML] Tuberous sclerosis: a new frontier in targeted treatment of autism

PE Davis, JM Peters, DA Krueger, M Sahin - Neurotherapeutics, 2015 - Elsevier
Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism
spectrum disorder (ASD). Tremendous progress in understanding the pathogenesis of TSC …

Advances in the therapeutic use of mammalian target of rapamycin (mTOR) inhibitors in dermatology

AL Fogel, S Hill, JMC Teng - Journal of the American Academy of …, 2015 - Elsevier
Significant developments in the use of mammalian target of rapamycin (mTOR) inhibitors
(mTORIs) as immunosuppressant and antiproliferative agents have been made. Recent …

Safety and feasibility of targeted agent combinations in solid tumours

SR Park, M Davis, JH Doroshow… - Nature reviews Clinical …, 2013 - nature.com
The plethora of novel molecular-targeted agents (MTAs) has provided an opportunity to
selectively target pathways involved in carcinogenesis and tumour progression …

Advances in the treatment of tuberous sclerosis complex

L Leclezio, PJ de Vries - Current opinion in psychiatry, 2015 - journals.lww.com
The updated diagnostic criteria and management guidelines, the new concept of TAND and
the TAND Checklist should lead to significant improvements in the quality of care for …

The UK guidelines for management and surveillance of Tuberous Sclerosis Complex

S Amin, JC Kingswood, PF Bolton… - … Journal of Medicine, 2019 - academic.oup.com
Abstract Background The severity of Tuberous Sclerosis Complex (TSC) can vary among
affected individuals. Complications of TSC can be life threatening, with significant impact on …

Is mTOR inhibition a systemic treatment for tuberous sclerosis?

R Moavero, A Coniglio, F Garaci, P Curatolo - Italian Journal of Pediatrics, 2013 - Springer
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by the
development of hamartomas in several organs. Mutations in the TSC1 and TSC2 tumor …

Tuberous Sclerosis Complex cellderived EVs have an altered protein cargo capable of regulating their microenvironment and have potential as disease biomarkers

M Ní Bhaoighill, JM FalcónPérez… - Journal of …, 2023 - Wiley Online Library
Hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1) is a feature of
many solid tumours and is a key pathogenic driver in the inherited condition Tuberous …

Tuberous sclerosis complex: From molecular biology to novel therapeutic approaches

K Switon, K Kotulska, A JanuszKaminska… - IUBMB …, 2016 - Wiley Online Library
Tuberous sclerosis complex (TSC) is a rare multisystem disorder, primary manifestations of
which are benign tumors and lesions in various organs of the body, including the brain. TSC …